Cystathioninuria

Preferred Label : Cystathioninuria;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cystathionase deficiency;

Description : 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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the cystathionase gene (CTH, 607657.0001);

Laboratory abnormalities : Hepatic gamma-cystathionase deficiency; Cystathioninuria;

Prefixed ID : #219500;

Details

Origin ID

219500;

UMLS CUI

C0220993;

Automatic exact mappings (from CISMeF team)
- Disorders of sulfur-bearing amino-acid metabolism [ICD-10 Sub-category (who)]
- cystathionase deficiency [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Cystathioninuria [PASCAL descriptor]
- Cystathioninuria [NCIt concept]
- Cystathioninuria [ICD-11 More detail]
- Cystathioninuria [HPO term]
- Cystathioninuria [ORDO Disease]
- Cystathioninuria (disorder) [SNOMED CT concept]
- cystathioninuria [DO Concept]
- cystathioninuria [Disease (Nov.)]
- cystathioninuria [CISMeF Querying Strategy]
- cystathioninuria, nos [SNOMED Notion]
DO Cross reference
- cystathioninuria [DO Concept]
Genes related to phenotype
- Cystathionine gamma-lyase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cystathioninuria [HPO term]
ORDO concept(s)
- Cystathioninuria [ORDO Disease]
See also inter- (CISMeF)
- Cystathione gamma-lyase deficiency (disorder) [SNOMED CT concept]
- Cystathionine gamma-lyase deficiency (disorder) [SNOMED CT concept]
- Gamma-cystathionase deficiency [MeSH concept]
- cystathionase deficiency [MeSH concept]
- cystathionine gamma-lyase deficiency [SNOMED Notion]
- gamma-cystathionase deficiency [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cystathioninuria [HPO term]
- Cystathioninuria [NCIt concept]
- Cystathioninuria (disorder) [SNOMED CT concept]
- cystathioninuria, nos [SNOMED Notion]

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