KEGG   DISEASE: Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia
Entry
H01035                      Disease                                
Name
Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia
Description
This syndrome is a condition with a unique pattern of malformations that includes coloboma (iris, optic nerve), high forehead, severe retrognathia, mental retardation, and agenesis of the corpus callosum. This syndrome is caused by mutations in 5-prime region of IGBP1 gene, a regulatory subunit of the major cellular phosphatase PP2A.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD20  Syndromes with central nervous system anomalies as a major feature
    H01035  Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia
Gene
IGBP1 (5-prime region) [HSA:3476] [KO:K17606]
Other DBs
ICD-11: LD20.Y
ICD-10: Q87.8
MeSH: C564509
OMIM: 300472
Reference
PMID:14556245
  Authors
Graham JM Jr, Wheeler P, Tackels-Horne D, Lin AE, Hall BD, May M, Short KM, Schwartz CE, Cox TC
  Title
A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13.
  Journal
Am J Med Genet A 123A:37-44 (2003)
DOI:10.1002/ajmg.a.20504
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