| H01004 | |
| H number | H01004 |
| Name | Velocardiofacial syndrome |
| Description | 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. |
| Category | Chromosomal abnormality |
| Network | - |
| Gene | TBX1 [HSA:6899] [KO:K10175] DGCR2 [HSA:9993] DGCR6 [HSA:8214] DGCR8 [HSA:54487] [KO:K18419] ESS2 [HSA:8220] [KO:K13118] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Velocardiofacial syndrome is closely related to DiGeorge syndrome (H01524). |
| Other DBs | ICD-11: LD44.N0 ICD-10: D82.1 MeSH: D058165 OMIM: 192430 |
| Reference | PMID:11689394 AUTHORS Murphy KC, Owen MJ TITLE Velo-cardio-facial syndrome: a model for understanding the genetics and pathogenesis of schizophrenia. JOURNAL Br J Psychiatry 179:397-402 (2001) DOI:10.1192/bjp.179.5.397 PMID:11844533 AUTHORS Murphy KC TITLE Schizophrenia and velo-cardio-facial syndrome. JOURNAL Lancet 359:426-30 (2002) DOI:10.1016/S0140-6736(02)07604-3 PMID:14585638 (TBX1) AUTHORS 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 TITLE Role of TBX1 in human del22q11.2 syndrome. JOURNAL Lancet 362:1366-73 (2003) DOI:10.1016/S0140-6736(03)14632-6 PMID:31174463 (DGCR2, DGCR6, DGCR8, ESS2) AUTHORS Motahari Z, Moody SA, Maynard TM, LaMantia AS TITLE In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects? JOURNAL J Neurodev Disord 11:7 (2019) DOI:10.1186/s11689-019-9267-z |