CATARACT 14, MULTIPLE TYPES

General Information (adopted from Orphanet):

Synonyms, Signs: CATARACT, ZONULAR PULVERULENT 3
CTRCT14
CAE3
CZP3
Number of Symptoms 7
OrphanetNr:
OMIM Id: 601885
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001115) Posterior polar cataract 8 / 7739
2
(HPO:0010920) Zonular cataract 3 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
(OMIM) Cataract, zonular pulverulent 3 / 7739
5
(OMIM) Cataract, nuclear coralliform 1 / 7739
6
(OMIM) Cataract, Coppock-like 2 / 7739
7
(OMIM) Cataract, embryonal nuclear 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mutations in the GJA3 gene have been found to cause multiple types of cataract, which have been described as zonular pulverulent, posterior polar, nuclear coralliform, embryonal nuclear, and Coppock-like.

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Clinical Description OMIM Rees et al. (2000) described a 4-generation family segregating autosomal dominant, morphologically homogeneous 'zonular pulverulent' cataracts. The cataract was bilateral and consisted of a central pulverulent (dust-like) opacity affecting the embryonal, fetal, and infantile nucleus of the lens. ...
Molecular genetics OMIM In affected members of 2 unrelated families with autosomal dominant zonular pulverulent cataract mapping to chromosome 13, Mackay et al. (1999) analyzed the candidate gene GJA3 and identified heterozygosity for a missense mutation (121015.0001) and a 1-bp insertion ...