KEGG DISEASE: Congenital primary aphakia

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 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:

MeSH:

OMIM:

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

LinkDB

» Japanese version

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