| H00797 | |
| H number | H00797 |
| Name | Martsolf syndrome |
| Description | Martsolf syndrome is a rare autosomal recessive condition that shows symptoms similar to Warburg Micro syndrome. It is characterized by severe mental retardation, congenital cataract, microcephaly, bone and joint anomalies, and genital hypoplasia. |
| Category | Congenital malformation |
| Network | - |
| Gene | RAB3GAP2 [HSA:25782] [KO:K19937] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.8 MeSH: C536028 OMIM: 212720 |
| Reference | PMID:2738902 AUTHORS Harbord MG, Baraitser M, Wilson J TITLE Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome. JOURNAL J Med Genet 26:397-400 (1989) DOI:10.1136/jmg.26.6.397 PMID:16532399 AUTHORS Aligianis IA, Morgan NV, Mione M, Johnson CA, Rosser E, Hennekam RC, Adams G, Trembath RC, Pilz DT, Stoodley N, Moore AT, Wilson S, Maher ER TITLE Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. JOURNAL Am J Hum Genet 78:702-7 (2006) DOI:10.1086/502681 PMID:17394201 AUTHORS Ehara H, Utsunomiya Y, Ieshima A, Maegaki Y, Nishimura G, Takeshita K, Ohno K TITLE Martsolf syndrome in Japanese siblings. JOURNAL Am J Med Genet A 143A:973-8 (2007) DOI:10.1002/ajmg.a.31626 PMID:20967465 AUTHORS Borck G, Wunram H, Steiert A, Volk AE, Korber F, Roters S, Herkenrath P, Wollnik B, Morris-Rosendahl DJ, Kubisch C TITLE A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. JOURNAL Hum Genet 129:45-50 (2011) DOI:10.1007/s00439-010-0896-2 |