| H00144 | |
| H number | H00144 |
| Name | Mucolipidosis IV |
| Description | Mucolipidosis IV (ML IV) is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. ML IV is caused by mutations in mucolipin 1 (MCOLN1), a late endosomal/lysosomal ion channel. Cells from patients with MLIV accumulate enlarged vacuolar structures containing phospholipids, sphingolipids, mucopolysaccharides, and gangliosides. Accumulation of lipids results from defects in membrane transport along the late endocytic pathway. It was found that MCOLN1 is required for efficient fusion of both late endosomes and autophagosomes with lysosomes. |
| Category | Inherited metabolic disorder, Lysosomal disease |
| Network | nt06528(H00144) Calcium signaling |
| Gene | MCOLN1 [HSA:57192] [KO:K04992] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C56.20 ICD-10: E75.1 MeSH: D009081 OMIM: 252650 |
| Reference | PMID:18708002 AUTHORS Heese BA TITLE Current strategies in the management of lysosomal storage diseases. JOURNAL Semin Pediatr Neurol 15:119-26 (2008) DOI:10.1016/j.spen.2008.05.005 PMID:15570434 AUTHORS Bach G TITLE Mucolipin 1: endocytosis and cation channel--a review. JOURNAL Pflugers Arch 451:313-7 (2005) DOI:10.1007/s00424-004-1361-7 PMID:11461186 AUTHORS Bach G TITLE Mucolipidosis type IV. JOURNAL Mol Genet Metab 73:197-203 (2001) DOI:10.1006/mgme.2001.3195 PMID:10973263 AUTHORS Bargal R, Avidan N, Ben-Asher E, Olender Z, Zeigler M, Frumkin A, Raas-Rothschild A, Glusman G, Lancet D, Bach G TITLE Identification of the gene causing mucolipidosis type IV. JOURNAL Nat Genet 26:118-23 (2000) DOI:10.1038/79095 |