Congenital primary aphakia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr: 83461
OMIM Id: 610256
ICD-10: Q12.3
UMLs: C1853230
MeSH: C537786
MedDRA: 10002947
Snomed: 35387008

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Nonsyndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Rare eye disease due to a differentiation anomaly
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000568) Microphthalmia 183 / 7739
2
 (HPO:0000517) Abnormality of the lens Very frequent [Orphanet] 12 / 7739
3
 (HPO:0007707) Congenital primary aphakia 2 / 7739
4
 (HPO:0000647) Sclerocornea 25 / 7739
5
 (HPO:0000526) Aniridia 12 / 7739
6
 (HPO:0000478) Abnormality of the eye Very frequent [Orphanet] 126 / 7739
7
 (HPO:0007779) Anterior segment of eye aplasia 1 / 7739
8
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Very frequent [Orphanet] 142 / 7739
9
 (OMIM) Absent iris 1 / 7739
10
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Congenital primary aphakia (CPA) is a rare developmental disorder characterized by absence of the lens, the development of which is normally induced during the fourth to fifth week of human embryogenesis. This original failure leads, in turn, to ...
Molecular genetics OMIM To identify the genetic cause of the congenital primary aphakia in the 3 sibs described by them, Valleix et al. (2006) sequenced 7 candidate genes chosen on the basis of either animal models or spatial and temporal patterns ...