| H00940 | |
| H番号 | H00940 |
| 名称 | Cohen 症候群 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | COH1 [HSA:157680] [KO:K19526] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD90.Y ICD-10: Q87.8 MeSH: C536438 OMIM: 216550 |
| 文献 | PMID:11477603 著者 Kivitie-Kallio S, Norio R タイトル Cohen syndrome: essential features, natural history, and heterogeneity. 雑誌 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 著者 Seifert W, Kuhnisch J, Maritzen T, Horn D, Haucke V, Hennies HC タイトル Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity. 雑誌 J Biol Chem 286:37665-75 (2011) DOI:10.1074/jbc.M111.267971 PMID:18655112 著者 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 タイトル Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population. 雑誌 Am J Med Genet A 146A:2221-6 (2008) DOI:10.1002/ajmg.a.32239 PMID:20461111 著者 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 タイトル High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. 雑誌 Eur J Hum Genet 18:1133-40 (2010) DOI:10.1038/ejhg.2010.59 |