KEGG   DISEASE: Oculodentodigital dysplasia
Entry
H00449                      Disease                                

Name
Oculodentodigital dysplasia
Description
Oculodentodigital dysplasia (ODDD) is an inherited disorder involving characteristic facial appearance and abnormalities of eyes, teeth, and limbs. The disease is inherited in both an autosomal dominant and recessive fasion. ODDD is caused by mutations in the gap junction alpha 1 gene.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00449  Oculodentodigital dysplasia
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H00449  Oculodentodigital dysplasia
Related
pathway
hsa04540  Gap junction
Gene
GJA1 [HSA:2697] [KO:K07372]
Other DBs
ICD-11: LD27.0Y
ICD-10: Q87.8
MeSH: C563160
OMIM: 164200 257850
Reference
  Authors
Frasson M, Calixto N, Cronemberger S, de Aguiar RA, Leao LL, de Aguiar MJ
  Title
Oculodentodigital dysplasia: study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance.
  Journal
Ophthalmic Genet 25:227-36 (2004)
DOI:10.1080/13816810490513424
Reference
  Authors
Paznekas WA, Karczeski B, Vermeer S, Lowry RB, Delatycki M, Laurence F, Koivisto PA, Van Maldergem L, Boyadjiev SA, Bodurtha JN, Jabs EW
  Title
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.
  Journal
Hum Mutat 30:724-33 (2009)
DOI:10.1002/humu.20958
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