KEGG   DISEASE: H00569Help
Entry
H00569                      Disease                                

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
Developmental disorder
Brite
Human diseases [BR:br08402]
 Reproductive system diseases
  Reproductive system disease
   H00569  Aarskog syndrome
 Other congenital disorders
  Congenital disorders of development
   H00569  Aarskog-Scott syndrome
Human diseases in ICD-10 classification [BR:br08403]
 17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
  Q80-Q89  Other congenital malformations
   Q87  Other specified congenital malformation syndromes affecting multiple systems
    H00569  Aarskog-Scott syndrome
BRITE hierarchy
Pathway
Regulation of actin cytoskeleton
Gene
FGD1 [HSA:2245] [KO:K05720]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  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)
Reference
  Authors
Ropers HH, Hamel BC
  Title
X-linked mental retardation.
  Journal
Nat Rev Genet 6:46-57 (2005)

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