A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal development impairment and caused by failure of response to PARATHYROID HORMONE rather than deficiencies. A severe form with resistance to multiple hormones is referred to as Type 1a and is associated with maternal mutant allele of the ALPHA CHAIN OF STIMULATORY G PROTEIN.
A family of heterotrimeric GTP-binding protein alpha subunits that activate ADENYLYL CYCLASES.
A condition caused by a deficiency of PARATHYROID HORMONE (or PTH). It is characterized by HYPOCALCEMIA and hyperphosphatemia. Hypocalcemia leads to TETANY. The acquired form is due to removal or injuries to the PARATHYROID GLANDS. The congenital form is due to mutations of genes, such as TBX1; (see DIGEORGE SYNDROME); CASR encoding CALCIUM-SENSING RECEPTOR; or PTH encoding parathyroid hormone.
FIBROUS DYSPLASIA OF BONE affecting several bones. When melanotic pigmentation (CAFE-AU-LAIT SPOTS) and multiple endocrine hyperfunction are additionally associated it is referred to as Albright syndrome.
A form of PSEUDOHYPOPARATHYROIDISM characterized by the same features except for the abnormal response to hormones such as PARATHYROID HORMONE. It is associated with paternally inherited mutant alleles of the ALPHA CHAIN OF STIMULATORY G PROTEIN.
A ubiquitously expressed member of the syntaxin subfamily of SNARE proteins that localizes to the GOLGI APPARATUS.
Reduction of the blood calcium below normal. Manifestations include hyperactive deep tendon reflexes, Chvostek's sign, muscle and abdominal cramps, and carpopedal spasm. (Dorland, 27th ed)
A polypeptide hormone (84 amino acid residues) secreted by the PARATHYROID GLANDS which performs the essential role of maintaining intracellular CALCIUM levels in the body. Parathyroid hormone increases intracellular calcium by promoting the release of CALCIUM from BONE, increases the intestinal absorption of calcium, increases the renal tubular reabsorption of calcium, and increases the renal excretion of phosphates.
Bones that make up the SKELETON of the TOES, consisting of two for the great toe, and three for each of the other toes.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
The variable phenotypic expression of a GENE depending on whether it is of paternal or maternal origin, which is a function of the DNA METHYLATION pattern. Imprinted regions are observed to be more methylated and less transcriptionally active. (Segen, Dictionary of Modern Medicine, 1992)
The region of the HAND between the WRIST and the FINGERS.
Hydroxy analogs of vitamin D 3; (CHOLECALCIFEROL); including CALCIFEDIOL; CALCITRIOL; and 24,25-DIHYDROXYVITAMIN D 3.
A condition characterized by the growth of unencapsulated masses of ADIPOSE TISSUE symmetrically deposited around the neck, shoulders, or other sites around the body.
Congenital anomaly of abnormally short fingers or toes.
A non-metal element that has the atomic symbol P, atomic number 15, and atomic weight 31. It is an essential element that takes part in a broad variety of biochemical reactions.
Derivative of 7-dehydroxycholesterol formed by ULTRAVIOLET RAYS breaking of the C9-C10 bond. It differs from ERGOCALCIFEROL in having a single bond between C22 and C23 and lacking a methyl group at C24.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Diseases of the BASAL GANGLIA including the PUTAMEN; GLOBUS PALLIDUS; claustrum; AMYGDALA; and CAUDATE NUCLEUS. DYSKINESIAS (most notably involuntary movements and alterations of the rate of movement) represent the primary clinical manifestations of these disorders. Common etiologies include CEREBROVASCULAR DISORDERS; NEURODEGENERATIVE DISEASES; and CRANIOCEREBRAL TRAUMA.
The physiologically active form of vitamin D. It is formed primarily in the kidney by enzymatic hydroxylation of 25-hydroxycholecalciferol (CALCIFEDIOL). Its production is stimulated by low blood calcium levels and parathyroid hormone. Calcitriol increases intestinal absorption of calcium and phosphorus, and in concert with parathyroid hormone increases bone resorption.
An adenine nucleotide containing one phosphate group which is esterified to both the 3'- and 5'-positions of the sugar moiety. It is a second messenger and a key intracellular regulator, functioning as a mediator of activity for a number of hormones, including epinephrine, glucagon, and ACTH.
Inorganic salts of phosphoric acid.
A condition of abnormally elevated output of PARATHYROID HORMONE (or PTH) triggering responses that increase blood CALCIUM. It is characterized by HYPERCALCEMIA and BONE RESORPTION, eventually leading to bone diseases. PRIMARY HYPERPARATHYROIDISM is caused by parathyroid HYPERPLASIA or PARATHYROID NEOPLASMS. SECONDARY HYPERPARATHYROIDISM is increased PTH secretion in response to HYPOCALCEMIA, usually caused by chronic KIDNEY DISEASES.
Pathologic deposition of calcium salts in tissues.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
A basic element found in nearly all organized tissues. It is a member of the alkaline earth family of metals with the atomic symbol Ca, atomic number 20, and atomic weight 40. Calcium is the most abundant mineral in the body and combines with phosphorus to form calcium phosphate in the bones and teeth. It is essential for the normal functioning of nerves and muscles and plays a role in blood coagulation (as factor IV) and in many enzymatic processes.
Addition of methyl groups to DNA. DNA methyltransferases (DNA methylases) perform this reaction using S-ADENOSYLMETHIONINE as the methyl group donor.

Effectiveness of 1,25-dihydroxyvitamin D supplementation on blood pressure reduction in a pseudohypoparathyroidism patient with high renin activity. (1/126)

A 42-year-old man had biochemical and somatic abnormalities compatible with pseudohypoparathyroidism type I (PsHP) and also had high plasma renin activity (PRA). After 1,25-dihydroxyvitamin D (calcitriol) supplementation the systolic/diastolic blood pressure, assessed by 24-hour non-invasive ambulatory blood pressure monitoring, was reduced from 145/96 mm Hg to 128/85 mm Hg with normalization of the serum calcium level and its related hormones, as well as decreased PRA. Calcitriol supplementation successfully reduced the blood pressure in this patient with PsHP and a high PRA, suggesting that calcium-related hormones and/or the renin-angiotensin system were involved in lowering the blood pressure.  (+info)

Prevalence of idiopathic hypoparathyroidism and pseudohypoparathyroidism in Japan. (2/126)

A nationwide epidemiologic survey of idiopathic hypoparathyroidism and pseudohypoparathyroidism was conducted in 1998 to clarify the prevalence of the two disorders in Japan. From a total of 14,100 departments of pediatrics, internal medicine, neurology, and endocrinology in whole Japan, 2952 (20.9%) study departments were selected at random. Of these departments receiving the first questionnaire, 1855 (62.8%) responded. From these departments 390 patients with idiopathic hypoparathyroidism and 203 with pseudohypoparathyroidism who visited the hospitals in 1997 were reported. The total numbers of patients were estimated to be 900 (690-1100) for idiopathic hypoparathyroidism and 430 (330-520) for pseudohypoparathyroidism (95% confidence intervals in parentheses). Using these data, the period prevalence of the diseases were 7.2 (5.5-8.8) per million population in idiopathic hypoparathyroidism, and 3.4 (2.6-4.2) in pseudohypoparathyroidism (95% confidence intervals in parentheses).  (+info)

Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib. (3/126)

G(s) is a heterotrimeric (alpha, beta, and gamma chains) G protein that couples heptahelical plasma membrane receptors to stimulation of adenylyl cyclase. Inactivation of one GNAS1 gene allele encoding the alpha chain of G(s) (G alpha(s)) causes pseudohypoparathyroidism type Ia. Affected subjects have resistance to parathyroid hormone (PTH) and other hormones that activate adenylyl cyclase plus somatic features termed Albright hereditary osteodystrophy. By contrast, subjects with pseudohypoparathyroidism type Ib have hormone resistance that is limited to PTH and lack Albright hereditary osteodystrophy. The molecular basis for pseudohypoparathyroidism type Ib is unknown. We analyzed the GNAS1 gene for mutations using polymerase chain reaction to amplify genomic DNA from three brothers with pseudohypoparathyroidism type Ib. We identified a novel heterozygous 3-base pair deletion causing loss of isoleucine 382 in the three affected boys and their clinically unaffected mother and maternal grandfather. This mutation was absent in other family members and 15 additional unrelated subjects with pseudohypoparathyroidism type Ib. To characterize the signaling properties of the mutant G alpha(s), we used site-directed mutagenesis to introduce the isoleucine 382 deletion into a wild type G alpha(s) cDNA, transfected HEK293 cells with either wild type or mutant G alpha(s) cDNA, plus cDNAs encoding heptahelical receptors for PTH, thyrotropic hormone, or luteinizing hormone, and we measured cAMP production in response to hormone stimulation. The mutant G alpha(s) protein was unable to interact with the receptor for PTH but showed normal coupling to the other coexpressed heptahelical receptors. These results provide evidence of selective uncoupling of the mutant G alpha(s) from PTH receptors and explain PTH-specific hormone resistance in these three brothers with pseudohypoparathyroidism type Ib. The absence of PTH resistance in the mother and maternal grandfather who carry the same mutation is consistent with current models of paternal imprinting of the GNAS1 gene.  (+info)

A GNAS1 imprinting defect in pseudohypoparathyroidism type IB. (4/126)

Pseudohypoparathyroidism type IB (PHPIB) is characterized by renal resistance to parathyroid hormone (PTH) and the absence of other endocrine or physical abnormalities. Familial PHPIB has been mapped to 20q13, near GNAS1, which encodes G(s)alpha, the G protein alpha-subunit required for receptor-stimulated cAMP generation. However, G(s)alpha function is normal in blood cells from PHPIB patients, ruling out mutations within the G(s)alpha coding region. In mice G(s)alpha is expressed only from the maternal allele in renal proximal tubules (the site of PTH action) but is biallelically expressed in most other tissues. Studies in patients with Albright hereditary osteodystrophy suggest a similar G(s)alpha imprinting pattern in humans. Here we identify a region upstream of the G(s)alpha promoter that is normally methylated on the maternal allele and unmethylated on the paternal allele, but that is unmethylated on both alleles in all 13 PHPIB patients studied. Within this region is an alternative promoter and first exon (exon 1A), generating transcripts that are normally expressed only from the paternal allele, but that are biallelically expressed in PHPIB patients. Therefore, PHPIB is associated with a paternal-specific imprinting pattern of the exon 1A region on both alleles, which may lead to decreased G(s)alpha expression in renal proximal tubules. We propose that loss of exon 1A imprinting is the cause of PHPIB.  (+info)

Skeletal responsiveness to parathyroid hormone in pseudohypoparathyroidism. (5/126)

BACKGROUND: Although there have been some case reports suggesting that bone in patients with pseudohypoparathyroidism (PHP) might respond to parathyroid hormone (PTH), no information is available as to whether serum PTH concentration is related to bone metabolic markers or to bone mineral density (BMD) in PHP. OBJECTIVE: To address these relationships, by comparing intact serum PTH, bone metabolic markers and BMD in patients with PHP with those in patients with idiopathic hypoparathyroidism (IHP) and postoperative hypoparathyroidism (OHP). METHODS: Intact serum PTH, bone metabolic markers (osteocalcin, tartrate-resistant acid phosphatase, pyridinoline, deoxypyridinoline) and BMD by dual-energy X-ray absorptiometry or single-photon absorptiometry were measured in patients with PHP Ia (n=2) and PHP Ib (n=8). The results were compared with those in patients with IHP (n=5) and OHP (n=14). RESULTS: All bone metabolic markers measured were present in significantly greater amounts in patients with PHP Ib than in those with IHP+OHP. The Z score (standard deviation of average BMD at each age) of the BMD of femoral neck was significantly lower in patients with PHP Ib than in those with IHP+OHP. The Z scores of BMD of lumbar spine and radius were also lower in patients with PHP Ib than in those with IHP+OHP, but the difference was not significant. Moreover, the intact serum PTH concentrations were significantly and positively related to bone metabolic marker levels in all patients, and the intact serum PTH concentrations were significantly and negatively related to BMD of lumbar spine in PHP patients. CONCLUSIONS: These results suggest that PTH stimulates bone turnover in PHP Ib patients, resulting in a relatively lower BMD in PHP Ib patients than in IHP+OHP patients. The present study indicates that bones of most cases of PHP could respond to PTH.  (+info)

Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism. (6/126)

Heterozygous inactivating mutations in the GNAS1 exons (20q13.3) that encode the alpha-subunit of the stimulatory G protein (Gsalpha) are found in patients with pseudohypoparathyroidism type Ia (PHP-Ia) and in patients with pseudo-pseudohypoparathyroidism (pPHP). However, because of paternal imprinting, resistance to parathyroid hormone (PTH)-and, sometimes, to other hormones that require Gsalpha signaling-develops only if the defect is inherited from a female carrier of the disease gene. An identical mode of inheritance is observed in kindreds with pseudohypoparathyroidism type Ib (PHP-Ib), which is most likely caused by mutations in regulatory regions of the maternal GNAS1 gene that are predicted to interfere with the parent-specific methylation of this gene. We report a patient with PTH-resistant hypocalcemia and hyperphosphatemia but without evidence for Albright hereditary osteodystrophy who has paternal uniparental isodisomy of chromosome 20q and lacks the maternal-specific methylation pattern within GNAS1. Since studies in the patient's fibroblasts did not reveal any evidence of impaired Gsalpha protein or activity, it appears that the loss of the maternal GNAS1 gene and the resulting epigenetic changes alone can lead to PTH resistance in the proximal renal tubules and thus lead to impaired regulation of mineral-ion homeostasis.  (+info)

Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus. (7/126)

Pseudohypoparathyroidism type Ib (PHP-Ib) is a paternally imprinted disorder which maps to a region on chromosome 20q13.3 that comprises GNAS1 at its telomeric boundary. Exon A/B of this gene was recently shown to display a loss of methylation in several PHP-Ib patients. In nine unrelated PHP-Ib kindreds, in whom haplotype analysis and mode of inheritance provided no evidence against linkage to this chromosomal region, we confirmed lack of exon A/B methylation for affected individuals, while unaffected carriers showed no epigenetic abnormality at this locus. However, affected individuals in one kindred (Y2) displayed additional methylation defects involving exons NESP55, AS and XL, and unaffected carriers in this family showed an abnormal methylation at exon NESP55, but not at other exons. Taken together, current evidence thus suggests that distinct mutations within or close to GNAS1 can lead to PHP-Ib and the associated epigenetic changes. To further delineate the telomeric boundary of the PHP-Ib locus, the previously reported kindred F, in which patient F-V/51 is recombinant within GNAS1, was investigated with several new markers and direct nucleotide sequence analysis. These studies revealed that F-V/51 remains recombinant at a single nucleotide polymorphism (SNP) located 1.2 kb upstream of XL. No heterozygous mutation was identified between exon XL and an SNP approximately 8 kb upstream of NESP55, where this affected individual becomes linked, suggesting that the genetic defect responsible for parathyroid hormone resistance in kindred F, and probably other PHP-Ib patients, is located >or=56 kb centromeric of the abnormally methylated exon A/B. A region upstream of the known coding exons of GNAS1 is therefore predicted to exert, presumably through imprinting of exon A/B, long-range effects on G(s)alpha expression.  (+info)

Clinical evaluation of the Elecsys beta-CrossLaps serum assay, a new assay for degradation products of type I collagen C-tlopeptides. (8/126)

BACKGROUND: The Elecsys beta-CrossLaps serum assay measures type I collagen degradation fragments (beta-CTx) that contain the beta-isomerized octapeptide EKAHD-beta-GGR. We investigated the analytical performance of the assay and changes in beta-CrossLaps in patients with metabolic bone diseases. METHODS: The electrochemiluminescent sandwich immunoassay uses two monoclonal antibodies directed against different regions of the linear EKAHD-beta-GGR. RESULTS: beta-CrossLaps (beta-CTx) immunoreactivity was stable in serum and plasma stored at 4 degrees C for 24 h or at room temperature for 4 h, and it did not decrease appreciably in samples stored at -30 degrees C for 12 weeks. Nine cycles of repeated freezing-thawing did not affect serum beta-CTx. The intra- and interassay imprecision (CVs) for four samples was < or = 2.6% (n = 10) and < or = 4.1% (n = 10), respectively. The mean day-to-day biological variation (CV) was 20% in 10 postmenopausal women (n = 10 days). Serum beta-CTx and osteocalcin were correlated in patients with hyperparathyroidism (r = 0.796; P <0.0001; n = 28), chronic renal failure on hemodialysis (r = 0.784; P = 0.0003; n = 16), hypoparathyroidism (r = 0.950; P = 0.0001; n = 11), and pseudohypoparathyroidism (r = 0.987; P = 0.130; n = 4). Serum beta-CTx decreased by 47.4% +/- 8.8% (mean +/- SD) and 60.7% +/- 6.5% at 3 and 6 months, respectively, after initiation of estrogen replacement therapy in 34 women. These decreases were greater than the decreases in urinary excretion of deoxypyridinoline (31.8% +/- 3.9% and 38.1% +/- 4.4%, respectively) or pyridinoline cross-linked C-terminal telopeptide of type I collagen (15.9% +/- 3.9% and 16.9% +/- 4.6%, respectively). CONCLUSIONS: The Elecsys beta-CrossLaps serum assay provides a potentially useful tool for assessing bone resorption state, including its response to estrogen replacement therapy.  (+info)

Pseudohypoparathyroidism (PHP) is a rare genetic disorder characterized by the body's resistance to the action of parathyroid hormone (PTH), leading to hypocalcemia (low serum calcium levels) and hyperphosphatemia (high serum phosphate levels). Despite normal or elevated PTH levels, target organs such as the kidneys and bones do not respond appropriately to its actions.

There are several types of PHP, with the most common being type Ia, which is caused by mutations in the GNAS gene. This gene provides instructions for making a protein called the alpha-subunit of the stimulatory G protein (Gs-alpha), which plays a crucial role in transmitting signals within cells. In PHP type Ia, there is a reduced amount or functionally impaired Gs-alpha protein, leading to resistance to PTH and other hormones that use this signaling pathway, such as thyroid-stimulating hormone (TSH) and gonadotropins.

PHP type Ia patients often exhibit physical features known as Albright's hereditary osteodystrophy (AHO), including short stature, round face, obesity, brachydactyly (shortened fingers and toes), and ectopic ossifications (formation of bone in abnormal places). However, it is important to note that not all individuals with AHO have PHP, and not all PHP patients display AHO features.

PHP type Ib is another common form of the disorder, characterized by PTH resistance without the physical manifestations of AHO. This type is caused by mutations in the STX16 gene or other genes involved in the intracellular trafficking of Gs-alpha protein.

Pseudohypoparathyroidism should be differentiated from hypoparathyroidism, a condition where there is an insufficient production or secretion of PTH by the parathyroid glands, leading to similar biochemical abnormalities but without resistance to PTH action.

GTP-binding protein alpha subunits, Gs, are a type of heterotrimeric G proteins that play a crucial role in the transmission of signals within cells. These proteins are composed of three subunits: alpha, beta, and gamma. The alpha subunit of Gs proteins (Gs-alpha) is responsible for activating adenylyl cyclase, an enzyme that converts ATP to cyclic AMP (cAMP), a secondary messenger involved in various cellular processes.

When a G protein-coupled receptor (GPCR) is activated by an extracellular signal, it interacts with and activates the Gs protein. This activation causes the exchange of guanosine diphosphate (GDP) bound to the alpha subunit with guanosine triphosphate (GTP). The GTP-bound Gs-alpha then dissociates from the beta-gamma subunits and interacts with adenylyl cyclase, activating it and leading to an increase in cAMP levels. This signaling cascade ultimately results in various cellular responses, such as changes in gene expression, metabolism, or cell growth and differentiation.

It is important to note that mutations in the GNAS gene, which encodes the Gs-alpha subunit, can lead to several endocrine and non-endocrine disorders, such as McCune-Albright syndrome, fibrous dysplasia, and various hormone-related diseases.

Hypoparathyroidism is a medical condition characterized by decreased levels or insufficient function of parathyroid hormone (PTH), which is produced and released by the parathyroid glands. These glands are located in the neck, near the thyroid gland, and play a crucial role in regulating calcium and phosphorus levels in the body.

In hypoparathyroidism, low PTH levels result in decreased absorption of calcium from the gut, increased excretion of calcium through the kidneys, and impaired regulation of bone metabolism. This leads to low serum calcium levels (hypocalcemia) and high serum phosphorus levels (hyperphosphatemia).

Symptoms of hypoparathyroidism can include muscle cramps, spasms, or tetany (involuntary muscle contractions), numbness or tingling sensations in the fingers, toes, and around the mouth, fatigue, weakness, anxiety, cognitive impairment, and in severe cases, seizures. Hypoparathyroidism can be caused by various factors, including surgical removal or damage to the parathyroid glands, autoimmune disorders, radiation therapy, genetic defects, or low magnesium levels. Treatment typically involves calcium and vitamin D supplementation to maintain normal serum calcium levels and alleviate symptoms. In some cases, recombinant PTH (Natpara) may be prescribed as well.

Fibrous Dysplasia, Polyostotic is a rare genetic disorder that affects the bone tissue. It is characterized by the replacement of normal bone tissue with fibrous (scar-like) tissue, leading to weak and fragile bones that are prone to fractures and deformities. The term "polyostotic" refers to the involvement of multiple bones in the body.

In this condition, there is an abnormal development of the bone during fetal growth or early childhood due to a mutation in the GNAS gene. This results in the formation of fibrous tissue instead of normal bone tissue, leading to the characteristic features of Fibrous Dysplasia, Polyostotic.

The symptoms of this condition can vary widely depending on the severity and location of the affected bones. Common symptoms include:

* Bone pain and tenderness
* Bone deformities (such as bowing of the legs)
* Increased risk of fractures
* Skin pigmentation changes (cafe-au-lait spots)
* Hearing loss or other hearing problems (if the skull is affected)

Fibrous Dysplasia, Polyostotic can also be associated with endocrine disorders such as precocious puberty and hyperthyroidism. Treatment typically involves a combination of medications to manage pain and prevent fractures, as well as surgical intervention to correct bone deformities or stabilize fractures.

Pseudopseudohypoparathyroidism (PPHP) is a rare genetic disorder that is characterized by resistance to the action of parathyroid hormone (PTH), but without the associated biochemical abnormalities seen in pseudohypoparathyroidism (PHP). PPHP is caused by mutations in the gene responsible for the production of the alpha subunit of the Gs protein, which is involved in the transmission of signals from the PTH receptor to the interior of the cell.

Individuals with PPHP typically have normal or elevated levels of serum calcium and phosphorus, and normal PTH levels, despite the resistance to PTH. The disorder is often characterized by a constellation of physical features known as Albright's hereditary osteodystrophy (AHO), which may include short stature, round face, brachydactyly (shortened fingers and toes), and ectopic calcifications. However, unlike PHP, individuals with PPHP do not have cognitive impairment or other endocrine abnormalities.

PPHP is inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the disorder if one parent is affected. The disorder was named "pseudopseudohypoparathyroidism" because it was initially misdiagnosed as pseudohypoparathyroidism, which is a similar but distinct disorder with different biochemical and clinical features.

Syntaxin 16 is a type of SNARE (Soluble N-ethylmaleimide sensitive factor attachment protein receptor) protein that is primarily involved in the intracellular transport of vesicles and fusion of membranes within the cell. It is particularly found in the Golgi apparatus and endosomes, where it plays a crucial role in mediating the docking and fusion of transport vesicles with target membranes during the process of vesicle trafficking.

Syntaxin 16 forms a complex with other SNARE proteins such as Vti1a, SNAP-23/25, and VAMP4 to facilitate the formation of a stable four-helix bundle, which brings the vesicle and target membranes into close proximity and promotes their fusion. This process is essential for the proper sorting and transport of proteins and lipids between different intracellular compartments, as well as for the regulation of various cellular processes such as receptor internalization, neurotransmitter release, and hormone secretion.

Mutations in syntaxin 16 have been associated with certain human diseases, including forms of cancer and neurological disorders. Therefore, understanding the structure and function of syntaxin 16 is important for gaining insights into the molecular mechanisms underlying these conditions and for developing potential therapeutic strategies.

Hypocalcemia is a medical condition characterized by an abnormally low level of calcium in the blood. Calcium is a vital mineral that plays a crucial role in various bodily functions, including muscle contraction, nerve impulse transmission, and bone formation. Normal calcium levels in the blood usually range from 8.5 to 10.2 milligrams per deciliter (mg/dL). Hypocalcemia is typically defined as a serum calcium level below 8.5 mg/dL or, when adjusted for albumin (a protein that binds to calcium), below 8.4 mg/dL (ionized calcium).

Hypocalcemia can result from several factors, such as vitamin D deficiency, hypoparathyroidism (underactive parathyroid glands), kidney dysfunction, certain medications, and severe magnesium deficiency. Symptoms of hypocalcemia may include numbness or tingling in the fingers, toes, or lips; muscle cramps or spasms; seizures; and, in severe cases, cognitive impairment or cardiac arrhythmias. Treatment typically involves correcting the underlying cause and administering calcium and vitamin D supplements to restore normal calcium levels in the blood.

Parathyroid hormone (PTH) is a polypeptide hormone that plays a crucial role in the regulation of calcium and phosphate levels in the body. It is produced and secreted by the parathyroid glands, which are four small endocrine glands located on the back surface of the thyroid gland.

The primary function of PTH is to maintain normal calcium levels in the blood by increasing calcium absorption from the gut, mobilizing calcium from bones, and decreasing calcium excretion by the kidneys. PTH also increases phosphate excretion by the kidneys, which helps to lower serum phosphate levels.

In addition to its role in calcium and phosphate homeostasis, PTH has been shown to have anabolic effects on bone tissue, stimulating bone formation and preventing bone loss. However, chronic elevations in PTH levels can lead to excessive bone resorption and osteoporosis.

Overall, Parathyroid Hormone is a critical hormone that helps maintain mineral homeostasis and supports healthy bone metabolism.

A toe phalanx is a bone in the toe, specifically referring to one of the 14 small bones that make up the digits of the foot, excluding the sesamoid bones. Each toe has three phalanges, except for the big toe, which only has two. These bones help form the basic structure of the toes and allow for their movement and flexibility. The term "phalanx" comes from Greek, meaning "a row of soldiers standing together in close order," which is fitting given how these bones are arranged in a line within each toe.

Human chromosome pair 20 is one of the 23 pairs of human chromosomes present in every cell of the body, except for the sperm and egg cells which contain only 23 individual chromosomes. Chromosomes are thread-like structures that carry genetic information in the form of genes.

Human chromosome pair 20 is an acrocentric chromosome, meaning it has a short arm (p arm) and a long arm (q arm), with the centromere located near the junction of the two arms. The short arm of chromosome 20 is very small and contains few genes, while the long arm contains several hundred genes that play important roles in various biological processes.

Chromosome pair 20 is associated with several genetic disorders, including DiGeorge syndrome, which is caused by a deletion of a portion of the long arm of chromosome 20. This syndrome is characterized by birth defects affecting the heart, face, and immune system. Other conditions associated with abnormalities of chromosome pair 20 include some forms of intellectual disability, autism spectrum disorder, and cancer.

Genomic imprinting is a epigenetic process that leads to the differential expression of genes depending on their parental origin. It involves the methylation of certain CpG sites in the DNA, which results in the silencing of one of the two copies of a gene, either the maternal or paternal allele. This means that only one copy of the gene is active and expressed, while the other is silent.

This phenomenon is critical for normal development and growth, and it plays a role in the regulation of genes involved in growth and behavior. Genomic imprinting is also associated with certain genetic disorders, such as Prader-Willi and Angelman syndromes, which occur when there are errors in the imprinting process that lead to the absence or abnormal expression of certain genes.

It's important to note that genomic imprinting is a complex and highly regulated process that is not yet fully understood. Research in this area continues to provide new insights into the mechanisms underlying gene regulation and their impact on human health and disease.

The metacarpus is the medical term for the part of the hand located between the carpus (wrist) and the digits (fingers). It consists of five bones, known as the metacarpal bones, which are numbered 1 to 5 from the thumb side to the little finger side. Each metacarpal bone has a base, a shaft, and a head. The bases of the metacarpal bones articulate with the carpal bones to form the wrist joint, while the heads of the metacarpal bones form the knuckles at the back of the hand.

The metacarpus plays an essential role in hand function as it provides stability and support for the movement of the fingers and thumb. Injuries or conditions affecting the metacarpus can significantly impact hand function, causing pain, stiffness, weakness, or deformity.

Hydroxycholecalciferols are metabolites of vitamin D that are formed in the liver and kidneys. They are important for maintaining calcium homeostasis in the body by promoting the absorption of calcium from the gut and reabsorption of calcium from the kidneys.

The two main forms of hydroxycholecalciferols are 25-hydroxyvitamin D (25(OH)D) and 1,25-dihydroxyvitamin D (1,25(OH)2D). 25-hydroxyvitamin D is the major circulating form of vitamin D in the body and is used as a clinical measure of vitamin D status. It is converted to 1,25-dihydroxyvitamin D in the kidneys by the enzyme 1α-hydroxylase, which is activated in response to low serum calcium or high phosphate levels.

1,25-dihydroxyvitamin D is the biologically active form of vitamin D and plays a critical role in regulating calcium homeostasis by increasing intestinal calcium absorption and promoting bone health. Deficiency in hydroxycholecalciferols can lead to rickets in children and osteomalacia or osteoporosis in adults, characterized by weakened bones and increased risk of fractures.

Multiple Symmetrical Lipomatosis is a rare condition characterized by the growth of multiple, symmetrical fatty tumors (lipomas) beneath the skin. These lipomas are typically slow-growing and benign, but their large number and symmetric distribution can lead to significant cosmetic concerns and, in some cases, functional impairment.

The tumors usually develop on the neck, shoulders, back, and abdomen, and they may also occur on the arms and legs. While the exact cause of Multiple Symmetrical Lipomatosis is not known, it has been associated with alcohol abuse and metabolic disorders. Treatment typically involves surgical removal of the lipomas, although this can be challenging due to their number and location. Recurrence of the tumors is also common.

Brachydactyly is a medical term that describes a condition where the digits (fingers or toes) are abnormally short in length. This condition can affect one or more digits and can be present at birth or develop later in life. Brachydactyly can occur as an isolated trait or as part of a genetic syndrome, such as Apert syndrome or Down syndrome.

The term "brachydactyly" comes from two Greek words: "brachys," which means short, and "daktylos," which means finger or toe. There are several types of brachydactyly, each classified based on the specific bones affected and the pattern of inheritance.

For example, Brachydactyly type A is characterized by shortening of the distal phalanges (the bone at the end of the finger or toe), while Brachydactyly type D involves shortening of the middle phalanges. In some cases, brachydactyly may also be associated with other symptoms such as joint stiffness, nail abnormalities, or curvature of the fingers or toes (clinodactyly).

It is important to note that while brachydactyly can be noticeable and affect the appearance of the hands or feet, it is generally a mild condition that does not typically cause significant functional impairment. However, if you have concerns about brachydactyly or any other medical condition, it is always best to consult with a healthcare professional for further evaluation and guidance.

Phosphorus is an essential mineral that is required by every cell in the body for normal functioning. It is a key component of several important biomolecules, including adenosine triphosphate (ATP), which is the primary source of energy for cells, and deoxyribonucleic acid (DNA) and ribonucleic acid (RNA), which are the genetic materials in cells.

Phosphorus is also a major constituent of bones and teeth, where it combines with calcium to provide strength and structure. In addition, phosphorus plays a critical role in various metabolic processes, including energy production, nerve impulse transmission, and pH regulation.

The medical definition of phosphorus refers to the chemical element with the atomic number 15 and the symbol P. It is a highly reactive non-metal that exists in several forms, including white phosphorus, red phosphorus, and black phosphorus. In the body, phosphorus is primarily found in the form of organic compounds, such as phospholipids, phosphoproteins, and nucleic acids.

Abnormal levels of phosphorus in the body can lead to various health problems. For example, high levels of phosphorus (hyperphosphatemia) can occur in patients with kidney disease or those who consume large amounts of phosphorus-rich foods, and can contribute to the development of calcification of soft tissues and cardiovascular disease. On the other hand, low levels of phosphorus (hypophosphatemia) can occur in patients with malnutrition, vitamin D deficiency, or alcoholism, and can lead to muscle weakness, bone pain, and an increased risk of infection.

Cholecalciferol is the chemical name for Vitamin D3. It is a fat-soluble vitamin that is essential for the regulation of calcium and phosphate levels in the body, which helps to maintain healthy bones and teeth. Cholecalciferol can be synthesized by the skin upon exposure to sunlight or obtained through dietary sources such as fatty fish, liver, and fortified foods. It is also available as a dietary supplement.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

Basal ganglia diseases are a group of neurological disorders that affect the function of the basal ganglia, which are clusters of nerve cells located deep within the brain. The basal ganglia play a crucial role in controlling movement and coordination. When they are damaged or degenerate, it can result in various motor symptoms such as tremors, rigidity, bradykinesia (slowness of movement), and difficulty with balance and walking.

Some examples of basal ganglia diseases include:

1. Parkinson's disease - a progressive disorder that affects movement due to the death of dopamine-producing cells in the basal ganglia.
2. Huntington's disease - an inherited neurodegenerative disorder that causes uncontrolled movements, emotional problems, and cognitive decline.
3. Dystonia - a movement disorder characterized by sustained or intermittent muscle contractions that cause twisting and repetitive movements or abnormal postures.
4. Wilson's disease - a rare genetic disorder that causes excessive copper accumulation in the liver and brain, leading to neurological and psychiatric symptoms.
5. Progressive supranuclear palsy (PSP) - a rare brain disorder that affects movement, gait, and balance, as well as speech and swallowing.
6. Corticobasal degeneration (CBD) - a rare neurological disorder characterized by progressive loss of nerve cells in the cerebral cortex and basal ganglia, leading to stiffness, rigidity, and difficulty with movement and coordination.

Treatment for basal ganglia diseases varies depending on the specific diagnosis and symptoms but may include medication, surgery, physical therapy, or a combination of these approaches.

Calcitriol is the active form of vitamin D, also known as 1,25-dihydroxyvitamin D. It is a steroid hormone that plays a crucial role in regulating calcium and phosphate levels in the body to maintain healthy bones. Calcitriol is produced in the kidneys from its precursor, calcidiol (25-hydroxyvitamin D), which is derived from dietary sources or synthesized in the skin upon exposure to sunlight.

Calcitriol promotes calcium absorption in the intestines, helps regulate calcium and phosphate levels in the kidneys, and stimulates bone cells (osteoblasts) to form new bone tissue while inhibiting the activity of osteoclasts, which resorb bone. This hormone is essential for normal bone mineralization and growth, as well as for preventing hypocalcemia (low calcium levels).

In addition to its role in bone health, calcitriol has various other physiological functions, including modulating immune responses, cell proliferation, differentiation, and apoptosis. Calcitriol deficiency or resistance can lead to conditions such as rickets in children and osteomalacia or osteoporosis in adults.

Cyclic adenosine monophosphate (cAMP) is a key secondary messenger in many biological processes, including the regulation of metabolism, gene expression, and cellular excitability. It is synthesized from adenosine triphosphate (ATP) by the enzyme adenylyl cyclase and is degraded by the enzyme phosphodiesterase.

In the body, cAMP plays a crucial role in mediating the effects of hormones and neurotransmitters on target cells. For example, when a hormone binds to its receptor on the surface of a cell, it can activate a G protein, which in turn activates adenylyl cyclase to produce cAMP. The increased levels of cAMP then activate various effector proteins, such as protein kinases, which go on to regulate various cellular processes.

Overall, the regulation of cAMP levels is critical for maintaining proper cellular function and homeostasis, and abnormalities in cAMP signaling have been implicated in a variety of diseases, including cancer, diabetes, and neurological disorders.

Phosphates, in a medical context, refer to the salts or esters of phosphoric acid. Phosphates play crucial roles in various biological processes within the human body. They are essential components of bones and teeth, where they combine with calcium to form hydroxyapatite crystals. Phosphates also participate in energy transfer reactions as phosphate groups attached to adenosine diphosphate (ADP) and adenosine triphosphate (ATP). Additionally, they contribute to buffer systems that help maintain normal pH levels in the body.

Abnormal levels of phosphates in the blood can indicate certain medical conditions. High phosphate levels (hyperphosphatemia) may be associated with kidney dysfunction, hyperparathyroidism, or excessive intake of phosphate-containing products. Low phosphate levels (hypophosphatemia) might result from malnutrition, vitamin D deficiency, or certain diseases affecting the small intestine or kidneys. Both hypophosphatemia and hyperphosphatemia can have significant impacts on various organ systems and may require medical intervention.

Hyperparathyroidism is a condition in which the parathyroid glands produce excessive amounts of parathyroid hormone (PTH). There are four small parathyroid glands located in the neck, near or within the thyroid gland. They release PTH into the bloodstream to help regulate the levels of calcium and phosphorus in the body.

In hyperparathyroidism, overproduction of PTH can lead to an imbalance in these minerals, causing high blood calcium levels (hypercalcemia) and low phosphate levels (hypophosphatemia). This can result in various symptoms such as fatigue, weakness, bone pain, kidney stones, and cognitive issues.

There are two types of hyperparathyroidism: primary and secondary. Primary hyperparathyroidism occurs when there is a problem with one or more of the parathyroid glands, causing them to become overactive and produce too much PTH. Secondary hyperparathyroidism develops as a response to low calcium levels in the body due to conditions like vitamin D deficiency, chronic kidney disease, or malabsorption syndromes.

Treatment for hyperparathyroidism depends on the underlying cause and severity of symptoms. In primary hyperparathyroidism, surgery to remove the overactive parathyroid gland(s) is often recommended. For secondary hyperparathyroidism, treating the underlying condition and managing calcium levels with medications or dietary changes may be sufficient.

Calcinosis is a medical condition characterized by the abnormal deposit of calcium salts in various tissues of the body, commonly under the skin or in the muscles and tendons. These calcium deposits can form hard lumps or nodules that can cause pain, inflammation, and restricted mobility. Calcinosis can occur as a complication of other medical conditions, such as autoimmune disorders, kidney disease, and hypercalcemia (high levels of calcium in the blood). In some cases, the cause of calcinosis may be unknown. Treatment for calcinosis depends on the underlying cause and may include medications to manage calcium levels, physical therapy, and surgical removal of large deposits.

Exons are the coding regions of DNA that remain in the mature, processed mRNA after the removal of non-coding intronic sequences during RNA splicing. These exons contain the information necessary to encode proteins, as they specify the sequence of amino acids within a polypeptide chain. The arrangement and order of exons can vary between different genes and even between different versions of the same gene (alternative splicing), allowing for the generation of multiple protein isoforms from a single gene. This complexity in exon structure and usage significantly contributes to the diversity and functionality of the proteome.

Calcium is an essential mineral that is vital for various physiological processes in the human body. The medical definition of calcium is as follows:

Calcium (Ca2+) is a crucial cation and the most abundant mineral in the human body, with approximately 99% of it found in bones and teeth. It plays a vital role in maintaining structural integrity, nerve impulse transmission, muscle contraction, hormonal secretion, blood coagulation, and enzyme activation.

Calcium homeostasis is tightly regulated through the interplay of several hormones, including parathyroid hormone (PTH), calcitonin, and vitamin D. Dietary calcium intake, absorption, and excretion are also critical factors in maintaining optimal calcium levels in the body.

Hypocalcemia refers to low serum calcium levels, while hypercalcemia indicates high serum calcium levels. Both conditions can have detrimental effects on various organ systems and require medical intervention to correct.

DNA methylation is a process by which methyl groups (-CH3) are added to the cytosine ring of DNA molecules, often at the 5' position of cytospine phosphate-deoxyguanosine (CpG) dinucleotides. This modification is catalyzed by DNA methyltransferase enzymes and results in the formation of 5-methylcytosine.

DNA methylation plays a crucial role in the regulation of gene expression, genomic imprinting, X chromosome inactivation, and suppression of transposable elements. Abnormal DNA methylation patterns have been associated with various diseases, including cancer, where tumor suppressor genes are often silenced by promoter methylation.

In summary, DNA methylation is a fundamental epigenetic modification that influences gene expression and genome stability, and its dysregulation has important implications for human health and disease.

"Pseudohypoparathyroidism: A Variation on the Theme of Hypoparathyroidism" (PDF). Archived from the original (PDF) on 2016-03-04 ... Pseudohypoparathyroidism is a condition associated primarily with resistance to the parathyroid hormone. Those with the ... Online Mendelian Inheritance in Man (OMIM): 203330 Aldred MA (May 2006). "Genetics of pseudohypoparathyroidism types Ia and Ic ... June 2007). "Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary ...
"Pseudohypoparathyroidism". Tze, W. J.; Saunders, J.; Drummond, G. I. (1975). "Urinary 3'5' cyclic AMP. Diagnostic test in ... "OMIM Entry - # 103580 - PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A". omim.org. Retrieved 12 February 2017. Cooper, Geoffrey M. (1 ... Pseudo-hypoparathyroidism-example of 'Seabright-Bantam syndrome'; report of three cases. Endocrinology, Baltimore, 1942, 30: ... Blood levels of parathyroid hormone are elevated in pseudohypoparathyroidism due to the hypocalcemia[medical citation needed] ...
A male with Pseudohypoparathyroidism has a 50% chance of passing on the defective GNAS gene to his children, although in an ... Blood tests including calcium, phosphate, and PTH will exclude other forms of Pseudohypoparathyroidism. X-rays may reveal a ... It can be considered a variant of Albright hereditary osteodystrophy, or Pseudohypoparathyroidism type 1A, as they present with ... Any of his daughters that have Pseudopseudohypoparathyroidism may in turn pass along Pseudohypoparathyroidism 1A to her ...
GNAS Pseudohypoparathyroidism Ib; 603233; GNAS Pseudohypoparathyroidism Ic; 612462; GNAS Pseudohypoparathyroidism, type IB; ... 603233; GNASAS Pseudohypoparathyroidism, type IB; 603233; STX16 Pseudovaginal perineoscrotal hypospadias; 264600; SRD5A2 ...
Pseudohypoparathyroidism (normal PTH levels but tissue insensitivity to the hormone, associated with intellectual disability ... "Hypoparathyroidism and pseudohypoparathyroidism". Arquivos Brasileiros de Endocrinologia & Metabologia. 50: 664-673. doi: ...
Peripheral dysostosis? Pseudo-pseudo-hypoparathyroidism? Cone epiphyses?". Am J Roentgenol Radium Ther Nucl Med. 99 (3): 724-35 ... wrist Hypothyroidism Hypoparathyroidism Pseudohypoparathyroidism Vitamin D deficiency Thyroid cysts Type 1 diabetes Autism ...
Metabolic problems resembling pseudohypoparathyroidism are seen in heterozygous mutated (wt/Oedsml) mice. Knocking out the ... Aldred MA (May 2006). "Genetics of pseudohypoparathyroidism types Ia and Ic". Journal of Pediatric Endocrinology & Metabolism. ... Mutations in GNAS products are associated with: Albright hereditary osteodystrophy pseudohypoparathyroidism type Ia and Ib ... Bastepe M, Jüppner H (2005). "GNAS locus and pseudohypoparathyroidism". Hormone Research. 63 (2): 65-74. doi:10.1159/000083895 ...
Pseudo-pseudohypoparathyroidism, one of the longest words in the English language, is used to describe an individual with ... This is known as pseudohypoparathyroidism. In this case the parathyroid glands are fully functional, and the hormone itself is ... Pseudohypoparathyroidism is often associated with the genetic condition Albright's hereditary osteodystrophy. ...
Pseudohypoparathyroidism Jameson, J. Larry (1999). Hormone Resistance Syndromes. Springer Science & Business Media. p. 41. ISBN ... It also seems to be more commonly found in pseudohypoparathyroidism of Albright's hereditary osteodystrophy, brachydactyly, ...
... pseudohypoparathyroidism, and pseudo-pseudohypoparathyroidism. Post-surgical hypoparathyroidism is the most common form, and ... Finally, pseudo-pseudohypoparathyroidism is paternally inherited. Patients display normal parathyroid hormone action in the ... Pseudohypoparathyroidism is maternally inherited and is categorized by hypocalcemia and hyperphosphatemia. ...
It has been associated with pseudohypoparathyroidism type Ib. Losing this gene causes loss of methylation at GNAS1 exon A/B. ... "A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting ...
Thomas, K. P.; Muthugovindan, D.; Singer, H. S. (2010). "Paroxysmal Kinesigenic Dyskinesias and Pseudohypo-parathyroidism Type ... pseudohypoparathyroidism, hypocalcemia, hypoglycemia, hyperglycemia, central nervous system trauma, or peripheral nervous ...
"HTLV-1-associated myelopathy/tropical spastic paraparesis with pseudohypoparathyroidism". Neurology. 56 (1): 104-6. doi:10.1212 ...
... and pseudohypoparathyroidism. Transient neonatal diabetes mellitus can also involve imprinting. The "imprinted brain hypothesis ...
Causes include kidney failure, pseudohypoparathyroidism, hypoparathyroidism, diabetic ketoacidosis, tumor lysis syndrome, and ...
The fourth and fifth metacarpal bones are commonly "blunted" or shortened, in pseudohypoparathyroidism and ...
A Review of Pseudohypoparathyroidism with Insight into Calcium Homeostasis". Archives of Surgery. 133 (6): 673-6. doi:10.1001/ ...
... idiopathic hypoparathyroidism and pseudohypoparathyroidism) and ectodermal dysplasia. However, a definite etiological ...
He determined that parathyroid hormone acts through cyclic AMP, and demonstrated that pseudohypoparathyroidism is a disorder of ...
"Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH- ...
... including pseudohypoparathyroidism, familial hypocalciuric hypercalcemia, and autosomal dominant hypercalciuric hypocalcemia. ...
Hypoparathyroidism Pseudohypoparathyroidism Pseudopseudohypoparathyroidism Disorders of the parathyroid hormone receptor have ...
... named for its similarity to pseudohypoparathyroidism in presentation, which is in turn named for its similarity to ...
"Treatment of Hypoparathyroidism and Pseudohypoparathyroidism with Metabolites of Vitamin D: Evidence for Impaired Conversion of ...
... pseudohypoparathyroidism MeSH C05.116.198.709.628 - pseudopseudohypoparathyroidism MeSH C05.116.198.762 - renal osteodystrophy ...
... including cancer as well as congenital diseases such as pseudohypoparathyroidism type IA, Beckwith-Wiedemann, Prader-Willi and ...
... genetic disorders inherited cardiovascular pulmonary diseases Albright hereditary osteodystrophy and pseudohypoparathyroidism ...
... receptor Foscarnet use Loop diuretic use Crohn disease High level of lactic acid in the blood Pseudohypoparathyroidism Trauma ...
... pseudohypoparathyroidism MeSH C18.452.174.766.815 - pseudopseudohypoparathyroidism MeSH C18.452.174.845 - rickets MeSH C18.452. ... pseudohypoparathyroidism MeSH C18.452.648.618.815.815 - pseudopseudohypoparathyroidism MeSH C18.452.648.730 - porphyria, ...
... pseudohypoparathyroidism MeSH C16.320.565.618.815.815 - pseudopseudohypoparathyroidism MeSH C16.320.565.731 - porphyria, ...
"Pseudohypoparathyroidism: A Variation on the Theme of Hypoparathyroidism" (PDF). Archived from the original (PDF) on 2016-03-04 ... Pseudohypoparathyroidism is a condition associated primarily with resistance to the parathyroid hormone. Those with the ... Online Mendelian Inheritance in Man (OMIM): 203330 Aldred MA (May 2006). "Genetics of pseudohypoparathyroidism types Ia and Ic ... June 2007). "Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albrights hereditary ...
Pseudohypoparathyroidism (PHP) is a genetic disorder in which the body fails to respond to parathyroid hormone. ... Pseudohypoparathyroidism (PHP) is a genetic disorder in which the body fails to respond to parathyroid hormone. ... Pseudohypoparathyroidism (Albright hereditary osteodystrophy). In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, ... Contact your provider if you or your child have any symptoms of a low calcium level or pseudohypoparathyroidism. ...
... pseudohypoparathyroidism patients may require higher doses of levothyroxine and calcitriol than current guidelines recommend. ... Abbreviations: PHP1A, pseudohypoparathyroidism type 1a; PHP1B, pseudohypoparathyroidism type 1b; WES, whole exome sequencing. ... Pseudohypoparathyroidism (PHP) is a rare hormone resistance syndrome caused by mutations in the GNAS gene which encodes the α ... Pseudohypoparathyroidism (PHP) is a rare hormone resistance syndrome caused by mutations in GNAS. This cross-sectional study ...
Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders characterized by hypocalcemia, hyperphosphatemia, ... encoded search term (Pseudohypoparathyroidism) and Pseudohypoparathyroidism What to Read Next on Medscape ... Pseudohypoparathyroidism&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Pseudohypoparathyroidism&title ... Pseudohypoparathyroidism Differential Diagnoses. Updated: Sep 17, 2017 * Author: Mini R Abraham, MD; Chief Editor: George T ...
Pseudohypoparathyroidism type 1C. Disease definition Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of ... Clinical manifestations of PHP1c are similar to those seen in pseudohypoparathyroidism type 1a (PHP1a; see this term). They ... pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, ...
Pseudohypoparathyroidism (PHP) is characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone ... GNAS locus and pseudohypoparathyroidism Murat Bastepe et al. Horm Res. 2005. Free article Show details Display options Display ... Recent advances in GNAS epigenetic research of pseudohypoparathyroidism. Izzi B, Van Geet C, Freson K. Izzi B, et al. Curr Mol ... The GNAS locus and pseudohypoparathyroidism. Bastepe M. Bastepe M. Adv Exp Med Biol. 2008;626:27-40. doi: 10.1007/978-0-387- ...
REQUIREMENTS. You must ensure that your Disclosures have been updated within the previous six months. Please go to our Submission Site to add or update your Disclosure information.. Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.. If you are responding to a comment that was written about an article you originally authored: ...
American Roentgen Ray Society Images of Pseudohypoparathyroidism diagnostic criteria All Images. X-rays. Echo & Ultrasound. CT ... The diagnosis of pseudohypoparathyroidism type 1a patients includes: [1] *Clinical features of Albrights hereditary ... Tafaj O, Jüppner H (2017). "Pseudohypoparathyroidism: one gene, several syndromes". J. Endocrinol. Invest. 40 (4): 347-356. doi ... The diagnosis of pseudohypoparathyroidism type 1a patients includes clinical features of Albrights hereditary osteodystrophy, ...
Levine, MA 2000, Clinical Spectrum and Pathogenesis of Pseudohypoparathyroidism, Reviews in Endocrine and Metabolic Disorders ... Levine, Michael A. / Clinical Spectrum and Pathogenesis of Pseudohypoparathyroidism. In: Reviews in Endocrine and Metabolic ... Clinical Spectrum and Pathogenesis of Pseudohypoparathyroidism. / Levine, Michael A. In: Reviews in Endocrine and Metabolic ... Levine, M. A. (2000). Clinical Spectrum and Pathogenesis of Pseudohypoparathyroidism. Reviews in Endocrine and Metabolic ...
Pseudohypoparathyroidism type 1a presenting as congenital hypothyroidism. Yosef Weisman*, Avraham Golander, Zvi Spirer, Zvi ... Pseudohypoparathyroidism type 1a presenting as congenital hypothyroidism. In: Journal of Pediatrics. 1985 ; Vol. 107, No. 3. pp ... Pseudohypoparathyroidism type 1a presenting as congenital hypothyroidism. / Weisman, Yosef; Golander, Avraham; Spirer, Zvi et ... Pseudohypoparathyroidism type 1a presenting as congenital hypothyroidism. Journal of Pediatrics. 1985 Sep;107(3):413-415. doi: ...
A Patient with Extensive Meningeal Calcification due to Pseudohypoparathyroidism: A Case Report. Abstract. Mahmoud Hussien ...
These syndromes include the various types of pseudohypoparathyroidism (1a, 1b, 1c, and 2) and severe hypomagnesemia, which ... Elevated intact parathyroid hormone (PTH) levels: Higher likelihood in patients with renal failure or pseudohypoparathyroidism ...
Hypoparathyroidism/Pseudohypoparathyroidism. Initial: 0.25 mcg PO qDay; titrate by 0.25 mcg q2-4Weeks ...
pseudohypoparathyroidism and related disorders. We wish to identify new predictors which can predict the disease course and ...
Pseudohypoparathyroidism is a rare endocrine disorder that can be caused by genetic (mainly maternally inherited inactivating ... abstract = "Pseudohypoparathyroidism is a rare endocrine disorder that can be caused by genetic (mainly maternally inherited ... N2 - Pseudohypoparathyroidism is a rare endocrine disorder that can be caused by genetic (mainly maternally inherited ... AB - Pseudohypoparathyroidism is a rare endocrine disorder that can be caused by genetic (mainly maternally inherited ...
Pseudo-pseudohypoparathyroidism. ALBRIGHT F, FORBES AP, HENNEMAN PH. ALBRIGHT F, et al. Among authors: henneman ph. Trans Assoc ...
... pseudohypoparathyroidism, pseudo-pseudohypoparathyroidism, or suspicion of these or related disorders based upon the ... These states include hypocalcemia, rickets, osteomalacia, pseudohypoparathyroidism. Resistance to a factor is manifested by ... of pseudohypoparathyroidism or pseudopseudohypoparathyroidism.. --Back to Top-- ...
Pseudohypoparathyroidism * Rickets * Secondary Amenorrhea * Secondary Hyperaldosteronism * Short Stature * Testicular ...
... and pseudohypoparathyroidism. Transient neonatal diabetes mellitus can also involve imprinting. The "imprinted brain hypothesis ...
Basal Ganglia Calcification in Newly Diagnosed Pseudohypoparathyroidism. (Sonia Joychan, Silpa Nadella, Dilip R. Patel and ...
Pseudohypoparathyroidism Pseudohypoparathyroidism is an uncommon group of disorders characterized by target organ resistance to ... Type II pseudohypoparathyroidism is even less common than type I. In affected patients, exogenous PTH raises the urinary cAMP ... Type Ia pseudohypoparathyroidism (Albright hereditary osteodystrophy) is caused by a mutation in the stimulatory Gs-alpha1 ... In type I pseudohypoparathyroidism, despite the presence of a high concentration of circulating PTH, urinary cAMP and urinary ...
Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues. Mantovani G, Spada A, Elli FM. Mantovani ...
Pseudohypoparathyroidism. Redundant Skin. Synonym: Loose Redundant Skin. Synonym: Redundant Skin Folds. Synonym: Sagging, ...
Disorders of GNAS inactivation include the phenotypes pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), ... Pseudohypoparathyroidism Ia (PHP-Ia) and pseudohypoparathyroidism Ic (PHP-Ic). The most readily recognized form of PHP is PHP- ... Review The GNAS locus and pseudohypoparathyroidism.[Adv Exp Med Biol. 2008]. Review The GNAS locus and pseudohypoparathyroidism ... OC = osteoma cutis; PHP-Ia = pseudohypoparathyroidism Ia; PHP-Ib = pseudohypoparathyroidism Ib; PHP-Ic = ...
Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations. Hum ... Bastepe M, Juppner H. GNAS locus and pseudohypoparathyroidism. Horm Res. 2005;63(2):65-74. doi: 10.1159/000083895. Epub 2005 ... a condition called pseudohypoparathyroidism type Ia, or PHPIa). A paternally-inherited mutation can result in AHO without ...
Pseudohypoparathyroidism is a rare cause of hypocalcemia, as a group of disorders defined by end-organ resistance to PTH and ... Pseudohypoparathyroidism is a rare inherited cause of hypocalcemia, defined as a group of disorders with end-organ resistance ... Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues. Nature Reviews - Endocrinology. 2016; 12 ... Pseudohypoparathyroidisms approach should include multidisciplinary interventions and it has a good prognosis when an adequate ...
"Pseudohypoparathyroidism" (for example) is really only an English word by courtesy. Sort of a linguistic Gastarbeiter. ...
Low calcium levels are associated with hypoparathyroidism, pseudo-hypoparathyroidism, chronic renal failure, rickets, infantile ...
This was the flip side of the pseudo-hypoparathyroidism study. It also shows the strength of the clinical center and the ... Albrights hereditary osteodystrophy and, he gave it a terrible name, pseudohypoparathyroidism. This terrible name, its like ...
  • In addition, Dr. Mitchell is interested in rare disorders of calcium and phosphate metabolism including hypoparathyroidism, pseudohypoparathyroidism, and X-linked hypophosphatemic rickets. (massgeneral.org)
  • Vitamin D is also used with other medications to treat low levels of calcium or phosphate caused by certain disorders (such as hypoparathyroidism , pseudohypoparathyroidism, familial hypophosphatemia ). (webmd.com)
  • Bastepe M, Juppner H. Pseudohypoparathyroidism, Albright's hereditary osteodystrophy, and progressive osseous heteroplasia: disorders caused by inactivating GNAS mutations. (medlineplus.gov)
  • Autosomal-Dominant Pseudohypoparathyroidism Type Ib is Caused by Different Microdeletions Within or Upstream of the GNAS Locus. (houstonendocrine.com)
  • Pseudohypoparathyroidism (Albright hereditary osteodystrophy). (medlineplus.gov)
  • In 1942, Fuller Albright first introduced the term pseudohypoparathyroidism to describe patients who presented with PTH-resistant hypocalcemia and hyperphosphatemia along with an unusual constellation of developmental and skeletal defects, collectively termed Albright hereditary osteodystrophy (AHO). (medscape.com)
  • Molecular Analysis of the GNAS1 Gene for the Correct Diagnosis of Albright Hereditary Osteodystrophy and Pseudohypoparathyroidism. (houstonendocrine.com)
  • Pseudohypoparathyroidism (PHP) is a heterogeneous group of rare endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia, and increased serum concentration of PTH. (medscape.com)
  • AJOU Open Repository: Obesity and calcinosis cutis: characteristic early signs of infantile pseudohypoparathyroidism. (ajou.ac.kr)
  • Pseudohypoparathyroidism is a very rare disorder, with estimated prevalence between 0.3 and 1.1 cases per 100000 population depending on geographic location. (wikipedia.org)
  • Pseudohypoparathyroidism (PHP) is a genetic disorder in which the body fails to respond to parathyroid hormone . (medlineplus.gov)
  • Pseudohypoparathyroidism is a less common disorder due to target organ resistance to PTH. (nih.gov)
  • Mutational analysis of the GNAS1 gene in pseudohypoparathyroidism. (ox.ac.uk)
  • Researchers have identified pathogenic mutations in the gene encoding the stimulatory G-protein alpha subunit (Gα s ) protein in children with severe obesity but few or no clinical signs of pseudohypoparathyroidism. (medwirenews.com)
  • Contact your provider if you or your child have any symptoms of a low calcium level or pseudohypoparathyroidism. (medlineplus.gov)
  • Pseudohypoparathyroidism can be diagnosed by blood or urine tests to measure the levels of calcium, phosphorous, and parathyroid hormone. (medscape.com)
  • Pseudohypoparathyroidism is a condition associated primarily with resistance to the parathyroid hormone. (wikipedia.org)
  • Pseudohypoparathyroidism and Mechanisms of Resistance toward Multiple Hormones: Molecular Evidence to Clinical Presentation. (houstonendocrine.com)
  • citation needed] The term pseudopseudohypoparathyroidism is used to describe a condition where the individual has the phenotypic appearance of pseudohypoparathyroidism type 1a, but is biochemically normal. (wikipedia.org)
  • citation needed] Type 1a Pseudohypoparathyroidism is clinically manifest by bone resorption with blunting of the fourth and fifth knuckles of the hand, most notable when the dorsum of the hand is viewed in closed fist position. (wikipedia.org)
  • There are 5 variants of pseudohypoparathyroidism: PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2), and pseudopseudohypoparathyroidism (PPHP). (medscape.com)
  • Pseudohypoparathyroidism: an example of Seabright-Bantam Syndrome. (houstonendocrine.com)
  • All seven children in this group who died during follow-up had diagnoses associated with increased baseline mortality risk, irrespective of exposure to GH treatment: adrenoleukodystrophy (34), congenital heart disease (35), Down syndrome (36) accompanied by CRI, Fanconi anemia (37), systemic lupus erythematosus (38), Duchenne muscular dystrophy with cardiac involvement (39), and pseudohypoparathyroidism accompanied by congenital hypopituitarism (40) and hydrocortisone treatment for central hypoadrenalism (41)," the researchers note. (medscape.com)
  • Stronger laboratory evidence of pseudohypoparathyroidism emerged only later in life, and not in all patients. (medwirenews.com)
  • List of allowed, restricted and not allowed foods for children with pseudohypoparathyroidism. (analesdepediatria.org)
  • Suggested options for breakfast, lunch, dinner and afternoon snacks for children with pseudohypoparathyroidism. (analesdepediatria.org)
  • Prevalence of idiopathic hypoparathyroidism and pseudohypoparathyroidism in Japan. (medscape.com)
  • 6. Hypoparathyroidism and pseudohypoparathyroidism in pregnancy: an Italian retrospective observational study. (nih.gov)
  • 15. Health-related quality of life in patients with nonsurgical hypoparathyroidism and pseudohypoparathyroidism. (nih.gov)
  • Clinical heterogeneity of pseudohypoparathyroidism: from hyper- to hypocalcemia. (medscape.com)
  • Pseudohypoparathyroidism (PHP) is characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone (PTH). (nih.gov)
  • The diagnosis of pseudohypoparathyroidism type 1a patients includes clinical features of Albright's hereditary osteodystrophy , parathyroid hormone resistance evidenced by hypocalcemia , hyperphosphatemia , elevated serum concentration of parathyroid hormone, diminished urinary cAMP response after administration of the biosynthetic N-terminal fragment of parathyroid hormone. (wikidoc.org)
  • Current investigations are focused principally upon the inclusion of subjects with, or suspected of having, hypocalcemia likely due to a resistance to parathyroid hormone, including subjects who have a diagnosis, or likely diagnosis, of pseudohypoparathyroidism or pseudopseudohypoparathyroidism. (nih.gov)
  • Pseudohypoparathyroidism is a rare inherited cause of hypocalcemia, defined as a group of disorders with end-organ resistance to parathyroid hormone (PTH) and characterized by hypocalcemia, hyperphosphatemia and elevated PTH serum levels. (pediatriconcall.com)
  • hypocalcemia, parathyroid hormone, pseudohypoparathyroidism. (pediatriconcall.com)
  • 3 Pseudohypoparathyroidism (PHP) is a rare cause of hypocalcemia. (pediatriconcall.com)
  • Rare causes of hypocalcemia include hyperparathyroidism (a disorder of the pituitary gland) and pseudohypoparathyroidism, a genetic disorder that mimics hypoparathyroidism . (hopkinsmedicine.org)
  • Bastepe M, Juppner H. Pseudohypoparathyroidism, Albright's hereditary osteodystrophy, and progressive osseous heteroplasia: disorders caused by inactivating GNAS mutations. (medlineplus.gov)
  • Levine, MA 2000, ' Clinical Spectrum and Pathogenesis of Pseudohypoparathyroidism ', Reviews in Endocrine and Metabolic Disorders , vol. 1, no. 4, pp. 265-274. (johnshopkins.edu)
  • The primary disorders of interest include a) parathyroid cancer and atypical parathyroid tumors b) Jansen's metaphyseal chondrodysplasia c) heritable forms of primary hyperparathyroidism including familial hypocalciuric hypercalcemia, multiple endocrine neoplasia type 1 and d) pseudohypoparathyroidism and related disorders. (nih.gov)
  • Patients, from 2 months to 100 years of age, of either sex M or F, with vitamin D resistance, rickets, osteomalacia, pseudohypoparathyroidism, pseudo-pseudohypoparathyroidism, or suspicion of these or related disorders based upon the appropriateness of their problem to ongoing investigations. (nih.gov)
  • Pseudohypoparathyroidism is an uncommon group of disorders characterized by target organ resistance to PTH, not by hormone deficiency. (msdmanuals.com)
  • Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues. (nih.gov)
  • An epigenetic cause of seizures and brain calcification: pseudohypoparathyroidism. (medscape.com)
  • citation needed] The term pseudopseudohypoparathyroidism is used to describe a condition where the individual has the phenotypic appearance of pseudohypoparathyroidism type 1a, but is biochemically normal. (wikipedia.org)
  • Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity. (medscape.com)
  • Molecular diagnosis of pseudohypoparathyroidism type Ib in a family with presumed paroxysmal dyskinesia. (medscape.com)
  • An update on the clinical and molecular characteristics of pseudohypoparathyroidism. (medscape.com)
  • There have been case reports of vitamin D deficiency mimicking pseudohypoparathyroidism (PHP). (medscape.com)
  • Pseudohypoparathyroidism (PHP) is a genetic disorder in which the body fails to respond to parathyroid hormone . (medlineplus.gov)
  • Clinical utility gene card for: pseudohypoparathyroidism. (medscape.com)
  • citation needed] Type 1a Pseudohypoparathyroidism is clinically manifest by bone resorption with blunting of the fourth and fifth knuckles of the hand, most notable when the dorsum of the hand is viewed in closed fist position. (wikipedia.org)
  • Increased Prevalence of Sleep Apnea in Children with Pseudohypoparathyroidism Type 1a. (medscape.com)
  • Available at http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=12935&Disease_Disease_Search_diseaseGroup=Pseudohypoparathyroidism&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Pseudohypoparathyroidism&title=Pseudohypoparat . (medscape.com)