glycoproteinosis, and type IV (Mucolipidosis type IV) is now classified as a gangliosidosis. The other two types are closely related. Mucolipidosis types II and III...
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I-cell disease (redirect from Mucolipidosis II)
I-Cell disease. "mucolipidosis II" at Dorland's Medical Dictionary Plante M, Claveau S, Lepage P, et al. (March 2008). "Mucolipidosis II: a single causal...
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transplantation. See the equivalent section in the main mucolipidosis article. Mucolipidosis type IV is severely under-diagnosed. It is often misdiagnosed...
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Compared to other ethnic groups, they more frequently act as carriers of mucolipidosis and Niemann–Pick disease, the latter of which can prove fatal. The occurrence...
46 KB (4,083 words) - 15:18, 6 September 2024
Glycoprotein storage disorders (E77.0-E77.1, E75.11) Mucolipidoses; Mucolipidosis IV is a gangliosidosis Also, glycogen storage disease type II (Pompe...
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Sialidosis (redirect from Mucolipidosis I)
Mucolipidosis type I (ML I) is an inherited lysosomal storage disease that results from a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase)...
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Pseudo-Hurler polydystrophy (redirect from Mucolipidosis III)
III living in their sixties.[citation needed] As in Mucolipidosis II (I-cell disease), Mucolipidosis III results from genetic defects in GlcNAc phosphotransferase...
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lysosomal storage disease often confused with the mucopolysaccharidoses is mucolipidosis. In this disorder, excessive amounts of fatty materials known as lipids...
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conditions: mucolipidosis II alpha/beta (I-cell disease) - GNPTAB mucolipidosis III alpha/beta (pseudo-Hurler polydystrophy) - GNPTAB mucolipidosis III gamma...
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family of TRP ion channels. TRPML1 is a 65 kDa protein associated with mucolipidosis type IV. Its predicted structure includes six transmembrane domains...
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post-translational modification of lysosomal enzymes Mucolipidosis II (I-cell disease) Mucolipidosis III (pseudo-Hurler polydystrophy) (E77.1) Defects in...
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4:10000 in males, 0.9:10000 in females FMR1 gene (on X chromosome) Mucolipidosis type IV 1:90 to 1:100 in Ashkenazi Jews MCOLN1 Other conditions Cystic...
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cell in both prokaryotes and eukaryotes. They are seen in Mucolipidosis II, and Mucolipidosis III, also called inclusion-cell or I-cell disease where lysosomal...
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"mucolipin", gets its name from the neurodevelopmental disorder mucolipidosis IV. Mucolipidosis IV was first discovered in 1974 by E.R. Berman who noticed...
49 KB (5,517 words) - 19:40, 16 September 2024
Tay–Sachs disease, but also in Niemann–Pick disease, Sandhoff disease, and mucolipidosis. Metabolic Storage Diseases:, Tay–Sachs disease Farber disease GM1 and...
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immunodeficiency Microphthalmia, syndromic 12 Miller syndrome Mohr syndrome Mucolipidosis type II Mucopolysaccharidosis, MPS-I-H/S Multiple congenital...
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gastrin concentration is elevated in virtually all individuals with mucolipidosis type IV (mean 1507 pg/mL; range 400-4100 pg/mL) (normal 0-200 pg/mL)...
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or mucopolysaccharidosis type I H-S Pseudo-Hurler polydystrophy, or mucolipidosis III (ML III) This disambiguation page lists articles associated with...
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dwarfism, Down syndrome, Parry–Romberg syndrome, Marfan syndrome, mucolipidosis, Frank–ter Haar syndrome, crouzon syndrome, megalocornea-mental retardation...
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(such as proton pump inhibitors). A symptom of rare diseases such as mucolipidosis (type IV). A symptom of Helicobacter pylori infection which neutralizes...
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syndrome Morquio syndrome type A Morquio syndrome type B MPS 3 C MPS 3 D Mucolipidosis III Mucopolysaccharidosis type 2 Hunter syndrome- mild form Mucopolysaccharidosis...
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caused by mutations in the CFTR gene, which is a chloride channel. Mucolipidosis type IV is caused by mutations in the gene encoding the TRPML1 channel...
44 KB (5,175 words) - 04:08, 10 September 2024
Muckle–Wells syndrome Mucoepithelial dysplasia Mucolipidosis type 1 Mucolipidosis type 3 Mucolipidosis type 4 Mucopolysaccharidosis type 3 Mucopolysaccharidosis...
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various, by type Malignant hyperthermia Ligand-gated calcium channel Mucolipidosis type IV Non-selective cation channel Myotonia congenita Voltage-dependent...
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disease, Bloom Syndrome, Gaucher disease, Niemann-Pick disease, and mucolipidosis IV among certain Jewish communities, is another screening program which...
139 KB (18,684 words) - 06:21, 27 September 2024
several disorders resulting from impaired lysosome function, including mucolipidosis type IV and Niemann-Pick's disease type C, as well as other conditions...
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(type 1) Fanconi anemia (type C) Bloom syndrome Niemann–Pick disease Mucolipidosis type IV Spinal muscular atrophy The samples collected by Dor Yeshorim...
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familial dysautonomia, Bloom syndrome, Fanconi anemia, cystic fibrosis and mucolipidosis IV) is due to the historically isolated population of Jews in Europe...
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MEGF8-related Carpenter syndrome Microcephaly, primary autosomal dominant Mucolipidosis type II Orofaciodigital syndrome type 14 Paris-Trousseau thrombocytopenia...
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Maroteaux–Lamy syndrome (MPS VI) Sly syndrome (MPS VII) Glycoproteinoses Mucolipidosis II (I-cell disease) Fucosidosis Aspartylglucosaminuria Alpha-mannosidosis...
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