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...
10 KB (1,032 words) - 23:17, 13 August 2024
transplantation. See the equivalent section in the main mucolipidosis article. Mucolipidosis type IV is severely under-diagnosed. It is often misdiagnosed...
9 KB (946 words) - 15:03, 27 October 2023
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...
45 KB (3,836 words) - 02:32, 12 June 2024
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...
5 KB (420 words) - 23:17, 13 August 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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conditions: mucolipidosis II alpha/beta (I-cell disease) - GNPTAB mucolipidosis III alpha/beta (pseudo-Hurler polydystrophy) - GNPTAB mucolipidosis III gamma...
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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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lysosomal storage disease often confused with the mucopolysaccharidoses is mucolipidosis. In this disorder, excessive amounts of fatty materials known as lipids...
27 KB (3,047 words) - 23:21, 13 August 2024
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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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)...
21 KB (2,424 words) - 18:04, 23 April 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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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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post-translational modification of lysosomal enzymes Mucolipidosis II (I-cell disease) Mucolipidosis III (pseudo-Hurler polydystrophy) (E77.1) Defects in...
3 KB (175 words) - 23:17, 13 August 2024
dwarfism, Down syndrome, Parry–Romberg syndrome, Marfan syndrome, mucolipidosis, Frank–ter Haar syndrome, crouzon syndrome, megalocornea-mental retardation...
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immunodeficiency Microphthalmia, syndromic 12 Miller syndrome Mohr syndrome Mucolipidosis type II Mucopolysaccharidosis, MPS-I-H/S Multiple congenital...
14 KB (1,343 words) - 23:07, 26 April 2024
(such as proton pump inhibitors). A symptom of rare diseases such as mucolipidosis (type IV). A symptom of Helicobacter pylori infection which neutralizes...
13 KB (1,518 words) - 22:15, 1 August 2024
Muckle–Wells syndrome Mucoepithelial dysplasia Mucolipidosis type 1 Mucolipidosis type 3 Mucolipidosis type 4 Mucopolysaccharidosis type 3 Mucopolysaccharidosis...
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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...
99 KB (10,153 words) - 14:37, 16 August 2024
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) - 14:37, 14 August 2024
"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) - 22:16, 16 July 2024
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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various, by type Malignant hyperthermia Ligand-gated calcium channel Mucolipidosis type IV Non-selective cation channel Myotonia congenita Voltage-dependent...
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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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disease, Bloom Syndrome, Gaucher disease, Niemann-Pick disease, and mucolipidosis IV among certain Jewish communities, is another screening program which...
139 KB (18,669 words) - 22:59, 15 August 2024
(type 1) Fanconi anemia (type C) Bloom syndrome Niemann–Pick disease Mucolipidosis type IV Spinal muscular atrophy The samples collected by Dor Yeshorim...
13 KB (1,308 words) - 03:32, 8 July 2024
MEGF8-related Carpenter syndrome Microcephaly, primary autosomal dominant Mucolipidosis type II Orofaciodigital syndrome type 14 Paris-Trousseau thrombocytopenia...
35 KB (3,636 words) - 03:36, 30 July 2024
Cousins Marry; half of British Pakistanis marry their first cousin; the Mucolipidosis type IV disorder, causing blindness; the reporter's grandparents were...
85 KB (12,845 words) - 03:42, 30 June 2024
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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(Concept Id: C3279843)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03. "Mucolipidosis type II (Concept Id: C2673377)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03...
52 KB (2,779 words) - 19:17, 14 October 2023