KEGG   DISEASE: Oculo-auricular syndrome
Entry
H01012                      Disease                                
Name
Oculo-auricular syndrome
Description
Oculo-auricular syndrome is a rare developmental recessive condition characterized by ophthalmic anomalies and a particular cleft ear lobule. Previously described ocular abnormalities include bilateral microcornea, posterior synechiae, cataract, chorioretinal colobomas, and rod-cone dystrophy. Mutation in the human Hmx1 ortholog HMX1 (NKX5-3) results in this disease.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD21  Syndromes with eye anomalies as a major feature
    H01012  Oculo-auricular syndrome
Gene
HMX1 [HSA:3166] [KO:K09349]
Other DBs
ICD-11: LD21.Y
OMIM: 612109
Reference
PMID:18423520
  Authors
Schorderet DF, Nichini O, Boisset G, Polok B, Tiab L, Mayeur H, Raji B, de la Houssaye G, Abitbol MM, Munier FL
  Title
Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome.
  Journal
Am J Hum Genet 82:1178-84 (2008)
DOI:10.1016/j.ajhg.2008.03.007
Reference
PMID:21417677
  Authors
Vaclavik V, Schorderet DF, Borruat FX, Munier FL
  Title
Retinal dystrophy in the oculo-auricular syndrome due to HMX1 mutation.
  Journal
Ophthalmic Genet 32:114-7 (2011)
DOI:10.3109/13816810.2011.562955
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