Cystathioninuria

Synonyms: CYSTATHIONASE DEFICIENCY; Gamma-cystathionase deficiency

Summary

Cystathioninuria, an autosomal recessive phenotype with no striking pathologic features, is characterized by abnormal accumulation of plasma cystathionine, leading to increased urinary excretion. Because of the inconsistency and wide variety of disease associations, cystathioninuria is considered to be a benign biochemical anomaly (Mudd et al., 2001). [from OMIM]

Available tests

12 tests are in the database for this condition.

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Clinical tests (12 available)

Molecular Genetics Tests

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Associated genes Help
Genes reported to contribute to the condition.

CTH
24 tests
Also known as: CGL, CSE, CTH
Summary: cystathionine gamma-lyase

Imported from Human Phenotype Ontology (HPO)

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Abnormality of the genitourinary system
- Cystathioninuria
  Cystathioninuria
  - MedGen UID: 66353
  - Concept ID: C0220993
  - Finding: Disease or Syndrome
  Abnormality of the genitourinary system
  See: Feature record | Search on this feature

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