Cataract 14 multiple types

Synonyms: CATARACT 14, COPPOCK-LIKE; CATARACT 14, EMBRYONAL NUCLEAR; CATARACT 14, NUCLEAR CORALLIFORM; CATARACT 14, NUCLEAR PULVERULENT; CATARACT 14, NUCLEAR PULVERULENT AND POSTERIOR POLAR; CATARACT 14, ZONULAR PULVERULENT; Zonular pulverulent cataract 3

Summary

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. The preferred title/symbol for this entry was formerly 'Cataract, Zonular Pulverulent 3; CZP3.' [from OMIM]

Available tests

16 tests are in the database for this condition.

Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

GJA3
27 tests
Also known as: CTRCT14, CX46, CZP3, GJA3
Summary: gap junction protein alpha 3

Imported from Human Phenotype Ontology (HPO)

Show all Hide all

Abnormality of the eye
- Zonular cataract
  Zonular cataract
  - MedGen UID: 350517
  - Concept ID: C1861821
  - Finding: Disease or Syndrome
  Abnormality of the eye
  See: Feature record | Search on this feature

Reviews

Clinical resources

Molecular resources

Consumer resources

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.