H00569 | |
H number | H00569 |
Name | Aarskog-Scott syndrome; Faciogenital dysplasia |
Description | Aarskog-Scott syndrome (AAS) is an X-linked disorder characterized by craniofacial, skeletal, and urogenital malformations and short stature. Mutations in the only known causative gene FGD1 are found in about one-fifth of the cases with the clinical diagnosis of AAS. |
Category | Congenital malformation |
Network | - |
Gene | FGD1 [HSA:2245] [KO:K05720] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.1 MeSH: C535331 OMIM: 305400 |
Reference | PMID:14560308 AUTHORS Orrico A, Galli L, Cavaliere ML, Garavelli L, Fryns JP, Crushell E, Rinaldi MM, Medeira A, Sorrentino V TITLE Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. JOURNAL Eur J Hum Genet 12:16-23 (2004) DOI:10.1038/sj.ejhg.5201081 PMID:15630421 AUTHORS Ropers HH, Hamel BC TITLE X-linked mental retardation. JOURNAL Nat Rev Genet 6:46-57 (2005) DOI:10.1038/nrg1501 |