| H00617 | |
| H number | H00617 |
| Name | Desmosterolosis |
| Description | 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). |
| Category | Inherited metabolic disorder |
| Network | nt06034(H00617) Cholesterol biosynthesis |
| Gene | DHCR24 [HSA:1718] [KO:K09828] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C52.10 ICD-10: Q87.8 MeSH: C566555 OMIM: 602398 |
| Reference | PMID:21671375 AUTHORS Schaaf CP, Koster J, Katsonis P, Kratz L, Shchelochkov OA, Scaglia F, Kelley RI, Lichtarge O, Waterham HR, Shinawi M TITLE Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. JOURNAL Am J Med Genet A 155A:1597-604 (2011) DOI:10.1002/ajmg.a.34040 PMID:9450875 AUTHORS FitzPatrick DR, Keeling JW, Evans MJ, Kan AE, Bell JE, Porteous ME, Mills K, Winter RM, Clayton PT TITLE Clinical phenotype of desmosterolosis. JOURNAL 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 AUTHORS Andersson HC, Kratz L, Kelley R TITLE Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay. JOURNAL Am J Med Genet 113:315-9 (2002) DOI:10.1002/ajmg.b.10873 PMID:11519011 (DHCR24) AUTHORS Waterham HR, Koster J, Romeijn GJ, Hennekam RC, Vreken P, Andersson HC, FitzPatrick DR, Kelley RI, Wanders RJ TITLE Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. JOURNAL Am J Hum Genet 69:685-94 (2001) DOI:10.1086/323473 |