| H00617 | |
| H番号 | H00617 |
| 名称 | Desmosterolosis; DHCR24欠損症 |
| 概要 | Desmosterolosis is a very rare disorder of cholesterol biosynthesis. Multiple congenital malformations including developmental delay, brain malformations, skeletal anomalies, and facial deformities are caused by impaired cholesterol synthesis due to mutations in the enzyme 24-dehydrocholesterol reductase (DHCR24). |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | nt06034(H00617) Cholesterol biosynthesis |
| 病因遺伝子 | DHCR24 [HSA:1718] [KO:K09828] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C52.10 ICD-10: Q87.8 MeSH: C566555 OMIM: 602398 |
| 文献 | PMID:21671375 著者 Schaaf CP, Koster J, Katsonis P, Kratz L, Shchelochkov OA, Scaglia F, Kelley RI, Lichtarge O, Waterham HR, Shinawi M タイトル Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. 雑誌 Am J Med Genet A 155A:1597-604 (2011) DOI:10.1002/ajmg.a.34040 PMID:9450875 著者 FitzPatrick DR, Keeling JW, Evans MJ, Kan AE, Bell JE, Porteous ME, Mills K, Winter RM, Clayton PT タイトル Clinical phenotype of desmosterolosis. 雑誌 Am J Med Genet 75:145-52 (1998) DOI:10.1002/(SICI)1096-8628(19980113)75:2<145::AID-AJMG5>3.0.CO;2-S PMID:12457401 著者 Andersson HC, Kratz L, Kelley R タイトル Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay. 雑誌 Am J Med Genet 113:315-9 (2002) DOI:10.1002/ajmg.b.10873 PMID:11519011 (DHCR24) 著者 Waterham HR, Koster J, Romeijn GJ, Hennekam RC, Vreken P, Andersson HC, FitzPatrick DR, Kelley RI, Wanders RJ タイトル Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. 雑誌 Am J Hum Genet 69:685-94 (2001) DOI:10.1086/323473 |