| H01004 | |
| H番号 | H01004 |
| 名称 | 口蓋心臓顔面症候群 |
| 概要 | Velocardiofacial syndrome (VCFS) is a condition characterized by multiple congenital abnormalities affecting tissues derived from neural crest cells. Individuals with VCFS are reported to have distinctive dysmorphology, congenital heart disease, learning disabilities, and high rates of psychiatric disorder, especially schizophrenia. |
| カテゴリ | 染色体異常 |
| ネットワーク | - |
| 病因遺伝子 | TBX1 [HSA:6899] [KO:K10175] DGCR2 [HSA:9993] DGCR6 [HSA:8214] DGCR8 [HSA:54487] [KO:K18419] ESS2 [HSA:8220] [KO:K13118] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Velocardiofacial syndrome is closely related to DiGeorge syndrome (H01524). |
| リンク | ICD-11: LD44.N0 ICD-10: D82.1 MeSH: D058165 OMIM: 192430 |
| 文献 | PMID:11689394 著者 Murphy KC, Owen MJ タイトル Velo-cardio-facial syndrome: a model for understanding the genetics and pathogenesis of schizophrenia. 雑誌 Br J Psychiatry 179:397-402 (2001) DOI:10.1192/bjp.179.5.397 PMID:11844533 著者 Murphy KC タイトル Schizophrenia and velo-cardio-facial syndrome. 雑誌 Lancet 359:426-30 (2002) DOI:10.1016/S0140-6736(02)07604-3 PMID:14585638 (TBX1) 著者 Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, Ichida F, Joo K, Kimura M, Imamura S, Kamatani N, Momma K, Takao A, Nakazawa M, Shimizu N, Matsuoka R タイトル Role of TBX1 in human del22q11.2 syndrome. 雑誌 Lancet 362:1366-73 (2003) DOI:10.1016/S0140-6736(03)14632-6 PMID:31174463 (DGCR2, DGCR6, DGCR8, ESS2) 著者 Motahari Z, Moody SA, Maynard TM, LaMantia AS タイトル In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects? 雑誌 J Neurodev Disord 11:7 (2019) DOI:10.1186/s11689-019-9267-z |