KEGG   DISEASE: IVIC syndromeHelp
Entry
H02283                      Disease                                

Name
IVIC syndrome
Description
The IVIC syndrome is an autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia. It is caused by mutations in the SALL4. SALL4 encodes a transcription factor with a wide expression in early embryogenesis, and later expression restricted to adult testis and ovary.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H02283  IVIC syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H02283  IVIC syndrome
BRITE hierarchy
Gene
SALL4 [HSA:57167] [KO:K19871]
Other DBs
ICD-11: LD2F.1Y
ICD-10: Q87.8
OMIM: 147750
Reference
PMID:7395922
  Authors
Arias S, Penchaszadeh VB, Pinto-Cisternas J, Larrauri S
  Title
The IVIC syndrome: a new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia.
  Journal
Am J Med Genet 6:25-59 (1980)
DOI:10.1002/ajmg.1320060105
Reference
  Authors
Paradisi I, Arias S
  Title
IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus.
  Journal
Am J Med Genet A 143:326-32 (2007)
DOI:10.1002/ajmg.a.31603

» Japanese version

DBGET integrated database retrieval system