Mucolipidoses

Mucolipidosis

Mucolipidosis type IV

I-cell

Medical genetics of Jews

List of OMIM disorder codes

Sialidosis

Gastrin

List of conditions with craniosynostosis

Naomi Amir

Achlorhydria

MCOLN1

Mucopolysaccharidosis

Pacman dysplasia

Pseudo-Hurler polydystrophy

MCOLN3

Transient receptor potential channel

I-cell disease

Nicotinic acid adenine dinucleotide phosphate

Cherry-red spot

Ion channel

List of MeSH codes (C05)

List of MeSH codes (C10)

Lysosomal storage disease

List of MeSH codes (C18)

List of MeSH codes (C16)

Megalocornea

Nuclear mitochondrial DNA segment

N-acetylglucosamine-1-phosphate transferase

List of diseases (M)

History of eugenics

Sialidosis6

• However, type I (sialidosis) is now classified as a glycoproteinosis, and type IV (Mucolipidosis type IV) is now classified as a gangliosidosis. (wikipedia.org)
• Mucolipidosis I is also known as sialidosis. (childrenshospital.org)
• Sialidosis, also known as mucolipidosis type I (ML I), is a rare inherited lysosomal storage disease that has clinical and histologic findings similar to the mucopolysaccharidoses and the sphingolipidoses. (medscape.com)
• Sphranger J, Gehler J, Cantz M. Mucolipidosis I--a sialidosis. (medscape.com)
• Heroman JW, Rychwalski P, Barr CC. Cherry red spot in sialidosis (mucolipidosis type I) . Arch Ophthalmol. (arizona.edu)
• Goldberg, MF 2008, ' Macular cherry-red spot and corneal haze in sialidosis (mucolipidosis type 1) [1] ', Archives of ophthalmology , vol. 126, no. 12. (johnshopkins.edu)

Cure Mucolipidosis2

• Cure Mucolipidosis is a global organization that is committed to the identification and treatment of Mucolipidosis through education, advocacy and research. (globalgenes.org)
• Cure Mucolipidosis will form partnerships with Science, Medicine and industry and will work towards finding a cure for people affected by Mucolipidosis globally. (globalgenes.org)

Ashkenazi Jews1

• Medical genetics of Ashkenazi Jews mucolipidoses at NINDS RESERVED, INSERM US14 -- ALL RIGHTS. (wikipedia.org)

Lysosomes4

• Conditions that cause molecules to build up inside lysosomes, including mucolipidosis III alpha/beta, are called lysosomal storage disorders. (medlineplus.gov)
• The signs and symptoms of mucolipidosis III alpha/beta are most likely due to the shortage of digestive enzymes inside lysosomes and the effects these enzymes have outside the cell. (medlineplus.gov)
• Mucolipidosis I is caused by a mutation on the NEU1 gene, resulting in a deficiency in an enzyme known as neuraminidase 1, which lysosomes require to properly break down large sugar molecules inside the body's cells. (childrenshospital.org)
• In individuals with mucolipidosis II, lysosomes do not perform their normal role effectively, leading to the accumulation of certain substances within the cell. (databridgemarketresearch.com)

Autosomal recessive2

• The mucolipidoses are inherited in an autosomal recessive manner, that is, they occur only when a child inherits two copies of the defective gene, one from each parent. (wikipedia.org)
• Mucolipidosis type IV (MLIV) is an autosomal recessive lysosomal storage disorder caused by mutations in the MCOLN1 gene coding for mucolipin-1 (TRPML1). (ox.ac.uk)

Gaucher1

• The Ashkenazi Jewish Panel includes the following diseases: Bloom syndrome, Canavan disease, Fanconi anemia type C, familial dysautonomia, Gaucher disease, glycogen storage disease type 1a, Mucolipidosis IV, Neimann-Pick disease, and Tay-Sachs disease. (cdc.gov)

Pseudo-Hurler Polydy2

• Mucolipidosis II (ML II), also known as I-Cell disease, and Mucolipidosis IIIA (ML IIIA), also known as Pseudo-Hurler Polydystrophy, are lysosomal storage disorders caused by a deficiency of N-acetylglucosamine-1-phosphotransferase (NAPT). (ggc.org)
• a deficiency or defect in this enzyme results in two forms of mucolipidoses, I-cell disease, and pseudo-Hurler polydystrophy. (theodora.com)

Disease10

• Mucolipidosis III alpha/beta and mucolipidosis II alpha/beta represent two ends of a spectrum of disease severity. (medlineplus.gov)
• Children who show signs and symptoms of Mucolipidosis I at birth typically have a more severe form of the disease. (childrenshospital.org)
• Spranger and Wiedermann subsequently classified this disease as mucolipidosis type II (ML II) because it had clinical characteristics that included mucopolysaccharidoses and sphingolipidoses. (medscape.com)
• Initially classified as a lipomucopolysaccharidosis, this disease was later classified into the group of similar diseases now known as the mucolipidoses. (medscape.com)
• I-cell disease (mucolipidosis II) (I cell disorder) refers to a rare inherited metabolic disorder that is generally characterized by coarse facial features such as mental retardation and skeletal abnormalities. (databridgemarketresearch.com)
• The increase in the incidences of I-cell disease (mucolipidosis II) (I cell Disorder) among population across the globe acts as one of the major factors driving the growth of global mucolipidosis II (I cell disorder) market. (databridgemarketresearch.com)
• Mucolipidosis II, also known as I-cell disease, is a rare inherited genetic disorder that falls under the broader category of lysosomal storage diseases. (databridgemarketresearch.com)
• Mucolipidosis type IV (ML IV) also known as ganglioside sialidase deficiency and sialolipidosis, is an inherited lysosomal storage disease, belonging to the group of oligosaccharidosis that affects many organs and tissues, including the nervous system. (mpssociety.org.uk)
• 3) Inherited pathogenic alleles of LYSET can cause a severe inherited disease which resembles GlcNAc-1-phosphotransferase deficiency (i.e., mucolipidosis type II). (stanford.edu)
• Mucolipidosis II/I-Cell disease) - Alzheimer disease - Hermansky Pudlak Syndrome (pigmentation bleeding disorder) - Cancer - virus and bacterial infections - ARC syndrome -Microvillar inclusion Disease. (umcutrecht.nl)

Disorder10

• Mucolipidosis III alpha/beta is a disorder that affects many parts of the body. (medlineplus.gov)
• Mucolipidosis III alpha/beta is a rare disorder, although its exact prevalence is unknown. (medlineplus.gov)
• Mutations in the GNPTAB gene can also cause a similar but more severe disorder called mucolipidosis II alpha/beta . (medlineplus.gov)
• Mucolipidosis I (ML I) is a rare, inherited disorder. (childrenshospital.org)
• Data Bridge Market Research analyses that the global mucolipidosis II (I cell disorder) market which was USD 12.80 billion in 2022, is expected to reach USD 15.80 billion by 2030, and is expected to undergo a CAGR of 3.9% during the forecast period 2023-2030. (databridgemarketresearch.com)
• Abnormal Curvature of the Spine" dominates the symptoms segment of the global mucolipidosis II (I cell disorder) market owing to the rising incidences of genetic diseases and other related issues. (databridgemarketresearch.com)
• Mucolipidosis type IV ( ML IV ), like other types of mucolipidosis is an inherited neurodegenerative lysosomal storage disorder. (chemeurope.com)
• Mutations in the α/β subunit precursor gene cause the severe lysosomal storage disorder mucolipidosis II (ML II) or the more moderate mucolipidosis III alpha/beta (ML III α/β), while mutations in the γ subunit gene cause the mildest disorder, mucolipidosis III gamma (ML III γ). (wustl.edu)
• GlcNAc-1-phosphotransferase deficiency leads to the severe lysosomal storage disorder mucolipidosis II (MLII). (stanford.edu)
• Their son Christopher was born with Mucolipidosis II, a very rare, terminal genetic disorder which caused both physical and developmental disabilities. (ncpd.org)

MLIV1

• Mucolipidosis IV (MLIV) is caused by mutations in the gene MCOLN1. (escholarship.org)

Mucopolysaccharidoses1

• When originally named, the mucolipidoses derived their name from the similarity in presentation to both mucopolysaccharidoses and sphingolipidoses. (wikipedia.org)

Metabolic disorders1

• Mucolipidosis is a group of inherited metabolic disorders that affect the body's ability to carry out the normal turnover of various materials within cells. (wikipedia.org)

Patients1

• Myelination deficits and severely dysmorphic corpus callosum were present early and resembled white matter pathology in mucolipidosis IV patients. (escholarship.org)

Mutations2

• Mutations in the GNPTAB gene cause mucolipidosis III alpha/beta. (medlineplus.gov)
• Mutations in the GNPTAB gene that cause mucolipidosis III alpha/beta result in reduced activity of GlcNAc-1-phosphotransferase. (medlineplus.gov)

Neurodegenerative1

• These results indicate the early involvement of glia, and challenge the traditional view of mucolipidosis IV as an overtly neurodegenerative condition. (escholarship.org)

Abnormalities2

• People with mucolipidosis III alpha/beta often have heart valve abnormalities and mild clouding of the clear covering of the eye ( cornea ). (medlineplus.gov)
• A rare severe form of mucolipidosis characterized by growth retardation skeletal abnormalities (dysostosis multiplex craniosynostosis contractures of the joints and osteopenia) facial dysmorphism stiff skin obstructive airway cardiomegaly and severe global developmental delay. (globalgenes.org)

Genetic1

• Spranger JW, Wiedemann HR. The genetic mucolipidoses. (medscape.com)

Deficiency2

• Mucolipidosis types II and III (ML II and ML III) result from a deficiency of the enzyme N-acetylglucosamine-1-phosphotransferase, which phosphorylates target carbohydrate residues on N-linked glycoproteins. (wikipedia.org)
• Mucolipidosis I (acid neuraminidase deficiency). (medscape.com)

Mutation1

• This type of mucolipidosis is caused by mutation of a non-selective cation channel, TRPML1 . (chemeurope.com)

Collaboration2

• There are currently no approved therapies which reverse the effects of Mucolipidosis I. Current approaches involve managing specific symptoms through targeted therapies and collaboration between specialists. (childrenshospital.org)
• To promote and support a global multi-stakeholder collaboration for Mucolipidosis. (globalgenes.org)

Mouse2

• Early evidence of delayed oligodendrocyte maturation in the mouse model of mucolipidosis type IV. (harvard.edu)
• Using an accurate mouse model of mucolipidosis IV, we observed early behavioral deficits which were accompanied by activation of microglia and astrocytes. (escholarship.org)

Type IV1

• Characterization and expression analysis of mcoln1.1 and mcoln1.2, the putative zebrafish co-orthologs of the gene responsible for human mucolipidosis type IV. (ox.ac.uk)

Result1

• Poor mental capacities, and difficulty reaching physical developmental milestones may also be result of mucolipidosis. (wikipedia.org)

People1

• Osteoporosis and progressive joint problems also cause bone pain that becomes more severe over time in people with mucolipidosis III alpha/beta. (medlineplus.gov)

Article1

• See the equivalent section in the main mucolipidosis article . (chemeurope.com)

Individuals2

• Individuals with mucolipidosis III alpha/beta grow slowly and have short stature. (medlineplus.gov)
• Individuals with mucolipidosis III alpha/beta generally survive into adulthood, but they may have a shortened lifespan. (medlineplus.gov)

Treatment1

• Our Vision To serve as a resource for stakeholders in the work, identification, treatment, and continual developments towards a cure for Mucolipidosis. (globalgenes.org)

Work1

• We work with the broad array of world-class specialists at Boston Children's to optimize the care we provide your child with Mucolipidosis I. (childrenshospital.org)