H01239 | |
H番号 | H01239 |
名称 | プロサポシン欠損症 |
概要 | Combined SAP deficiency is a fatal infantile lysosomal storage disorder with hepatosplenomegaly and severe neurological disease. It is caused by mutations in the PSAP gene leading to absence or non-functionality of the prosaposin protein. Mammalian prosaposin encodes in tandem four small acidic activator proteins (saposins) with specificities for glycosphingolipids hydrolases. |
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 | - |
病因遺伝子 | PSAP [HSA:5660] [KO:K12382] |
病原体 | - |
環境要因 | - |
発癌物質 | - |
治療薬 | - |
コメント | Defects in PSAP saposin-B region are the cause of metachromatic leukodystrophy [DS:H00127]. Defects in PSAP saposin-C region are the cause of atypical Gaucher disease [DS:H00126]. Defects in PSAP saposin-A region are the cause of atypical Krabbe disease [DS:H00135]. |
リンク | ICD-11: 5C56.0Y ICD-10: E75.2 MeSH: C567125 OMIM: 611721 |
文献 | PMID:1371116 著者 Schnabel D, Schroder M, Furst W, Klein A, Hurwitz R, Zenk T, Weber J, Harzer K, Paton BC, Poulos A, et al. タイトル Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene. 雑誌 J Biol Chem 267:3312-5 (1992) DOI:10.1016/S0021-9258(19)50733-5 PMID:11309366 著者 Hulkova H, Cervenkova M, Ledvinova J, Tochackova M, Hrebicek M, Poupetova H, Befekadu A, Berna L, Paton BC, Harzer K, Boor A, Smid F, Elleder M タイトル A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation. 雑誌 Hum Mol Genet 10:927-40 (2001) DOI:10.1093/hmg/10.9.927 PMID:17353235 著者 Sun Y, Witte DP, Zamzow M, Ran H, Quinn B, Matsuda J, Grabowski GA タイトル Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and alpha-hydroxy ceramide accumulation, and altered prosaposin trafficking. 雑誌 Hum Mol Genet 16:957-71 (2007) DOI:10.1093/hmg/ddm040 |