| H00144 | |
| H番号 | H00144 |
| 名称 | ムコリピドーシス IV 型 |
| 概要 | 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. |
| カテゴリ | 先天性代謝異常症, ライソゾーム病 |
| ネットワーク | nt06528(H00144) Calcium signaling |
| 病因遺伝子 | MCOLN1 [HSA:57192] [KO:K04992] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C56.20 ICD-10: E75.1 MeSH: D009081 OMIM: 252650 |
| 文献 | PMID:18708002 著者 Heese BA タイトル Current strategies in the management of lysosomal storage diseases. 雑誌 Semin Pediatr Neurol 15:119-26 (2008) DOI:10.1016/j.spen.2008.05.005 PMID:15570434 著者 Bach G タイトル Mucolipin 1: endocytosis and cation channel--a review. 雑誌 Pflugers Arch 451:313-7 (2005) DOI:10.1007/s00424-004-1361-7 PMID:11461186 著者 Bach G タイトル Mucolipidosis type IV. 雑誌 Mol Genet Metab 73:197-203 (2001) DOI:10.1006/mgme.2001.3195 PMID:10973263 著者 Bargal R, Avidan N, Ben-Asher E, Olender Z, Zeigler M, Frumkin A, Raas-Rothschild A, Glusman G, Lancet D, Bach G タイトル Identification of the gene causing mucolipidosis type IV. 雑誌 Nat Genet 26:118-23 (2000) DOI:10.1038/79095 |