KEGG   DISEASE: Congenital primary aphakia
Entry
H00676                      Disease                                

Name
Congenital primary aphakia
Description
Congenital primary aphakia (CPA) is a rare congenital eye disorder characterized by the absence of lens. Formation of lens and lens-induced anterior structures does not take place in CPA, resulting in complete aplasia of the anterior segment of the eye. CPA is caused by mutations in FOXE3, a lens-specific transcription factor.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of eye
   H00676  Congenital primary aphakia
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the eye, eyelid or lacrimal apparatus
    LA12  Structural developmental anomalies of lens or zonula
     H00676  Congenital primary aphakia
Gene
FOXE3 [HSA:2301] [KO:K09398]
Other DBs
ICD-11: LA12.2
ICD-10: Q12.3
MeSH: C537786
OMIM: 610256
Reference
  Authors
Iseri SU, Osborne RJ, Farrall M, Wyatt AW, Mirza G, Nurnberg G, Kluck C, Herbert H, Martin A, Hussain MS, Collin JR, Lathrop M, Nurnberg P, Ragoussis J, Ragge NK
  Title
Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.
  Journal
Hum Mutat 30:1378-86 (2009)
DOI:10.1002/humu.21079
Reference
  Authors
Medina-Martinez O, Jamrich M
  Title
Foxe view of lens development and disease.
  Journal
Development 134:1455-63 (2007)
DOI:10.1242/dev.000117
Reference
  Authors
Valleix S, Niel F, Nedelec B, Algros MP, Schwartz C, Delbosc B, Delpech M, Kantelip B
  Title
Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans.
  Journal
Am J Hum Genet 79:358-64 (2006)
DOI:10.1086/505654

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Ontology (2)   
   KEGG BRITE (2)   
Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (3)   
   PubMed (3)   
All databases (8)   

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