| H01160 | |
| H番号 | H01160 |
| 名称 | 裂脳症 |
| 概要 | Schizencephaly is a clinically and etiologically heterogeneous cerebral malformation presenting as unilateral or bilateral hemispheric cleft with direct connection between the inner and outer liquor spaces. Gray matter-lined clefts in the cerebral cortex and a range of neurological presentations are characteristic. Mutations in SIX3, SHH, and EMX2 have been reported. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | SIX3 [HSA:6496] [KO:K19473] SHH [HSA:6469] [KO:K11988] EMX2 [HSA:2018] [KO:K09317] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Schizencephaly may be considered as part of the wide phenotypic spectrum of the distinct developmental anomaly holoprosencephaly [DS:H00267]. |
| リンク | ICD-11: LA05.61 ICD-10: Q04.6 MeSH: D054220 OMIM: 269160 |
| 文献 | PMID:20157829 著者 Hehr U, Pineda-Alvarez DE, Uyanik G, Hu P, Zhou N, Hehr A, Schell-Apacik C, Altus C, Daumer-Haas C, Meiner A, Steuernagel P, Roessler E, Winkler J, Muenke M タイトル Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly. 雑誌 Hum Genet 127:555-61 (2010) DOI:10.1007/s00439-010-0797-4 PMID:15888615 著者 Oh KY, Kennedy AM, Frias AE Jr, Byrne JL タイトル Fetal schizencephaly: pre- and postnatal imaging with a review of the clinical manifestations. 雑誌 Radiographics 25:647-57 (2005) DOI:10.1148/rg.253045103 PMID:8528262 著者 Brunelli S, Faiella A, Capra V, Nigro V, Simeone A, Cama A, Boncinelli E タイトル Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. 雑誌 Nat Genet 12:94-6 (1996) DOI:10.1038/ng0196-94 |