| H00940 | |
| H number | H00940 |
| Name | Cohen syndrome |
| Description | Cohen syndrome is an autosomal recessive disorder with a broad phenotypic spectrum. Essential symptoms include mental retardation, progressive postnatal microcephaly, typical facial anomalies, ophthalmologic findings such as chorioretinal dystrophy and myopia, and granulocytopenia. Obesity and growth delay could be observed. In most patients, Cohen syndrome is caused by loss-of-function mutations in the COH1 gene. |
| Category | Congenital malformation |
| Network | - |
| Gene | COH1 [HSA:157680] [KO:K19526] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD90.Y ICD-10: Q87.8 MeSH: C536438 OMIM: 216550 |
| Reference | PMID:11477603 AUTHORS Kivitie-Kallio S, Norio R TITLE Cohen syndrome: essential features, natural history, and heterogeneity. JOURNAL Am J Med Genet 102:125-35 (2001) DOI:10.1002/1096-8628(20010801)102:2<125::AID-AJMG1439>3.0.CO;2-0 PMID:21865173 AUTHORS Seifert W, Kuhnisch J, Maritzen T, Horn D, Haucke V, Hennies HC TITLE Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity. JOURNAL J Biol Chem 286:37665-75 (2011) DOI:10.1074/jbc.M111.267971 PMID:18655112 AUTHORS Bugiani M, Gyftodimou Y, Tsimpouka P, Lamantea E, Katzaki E, d'Adamo P, Nakou S, Georgoudi N, Grigoriadou M, Tsina E, Kabolis N, Milani D, Pandelia E, Kokotas H, Gasparini P, Giannoulia-Karantana A, Renieri A, Zeviani M, Petersen MB TITLE Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population. JOURNAL Am J Med Genet A 146A:2221-6 (2008) DOI:10.1002/ajmg.a.32239 PMID:20461111 AUTHORS Parri V, Katzaki E, Uliana V, Scionti F, Tita R, Artuso R, Longo I, Boschloo R, Vijzelaar R, Selicorni A, Brancati F, Dallapiccola B, Zelante L, Hamel CP, Sarda P, Lalani SR, Grasso R, Buoni S, Hayek J, Servais L, de Vries BB, Georgoudi N, Nakou S, Petersen MB, Mari F, Renieri A, Ariani F TITLE High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. JOURNAL Eur J Hum Genet 18:1133-40 (2010) DOI:10.1038/ejhg.2010.59 |