Cataract 40

Synonyms: CATARACT 40 WITH OR WITHOUT MICROCORNEA; CATARACT, CONGENITAL TOTAL, WITH POSTERIOR SUTURAL OPACITIES IN HETEROZYGOTES; Cataract 40, X-linked; Cataract, congenital, X-linked

Summary

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the NHS gene. [from MONDO]

Available tests

33 tests are in the database for this condition.

Clinical tests (33 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

NHS
75 tests
Also known as: CTRCT40, CXN, SCML1, NHS
Summary: NHS actin remodeling regulator

Imported from Human Phenotype Ontology (HPO)

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Abnormality of the eye
- Nuclear cataract
  Nuclear cataract
  - MedGen UID: 140274
  - Concept ID: C0392557
  - Finding: Finding
  Abnormality of the eye
  See: Feature record | Search on this feature
- Severely reduced visual acuity
  Severely reduced visual acuity
  - MedGen UID: 226987
  - Concept ID: C1301509
  - Finding: Disease or Syndrome
  Abnormality of the eye
  See: Feature record | Search on this feature
- Sutural cataract
  Sutural cataract
  - MedGen UID: 869308
  - Concept ID: C4023734
  - Finding: Disease or Syndrome
  Abnormality of the eye
  See: Feature record | Search on this feature

Reviews

Clinical resources

Molecular resources

Consumer resources

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