cystathioninuria
Findings
No curated finding names cystathioninuria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases.
Definition from the Mondo Disease Ontology (MONDO:0009058), read 2026-09-29. CC BY 4.0.
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CystathioninuriaHPOHP:0003153
- Obligate (100% of cases)
- CystathioninemiaHPOHP:0003286
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Abnormal pinna morphologyHPOHP:0000377
- Occasional (5% to 29% of cases)
- Kidney stoneHPOHP:0000787
- Occasional (5% to 29% of cases)
- Talipes equinovarusHPOHP:0001762
- Occasional (5% to 29% of cases)
- TremorHPOHP:0001337
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CTHHGNC:2501
- Definitive · ClinGen · Autosomal recessive · 2019
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: cystathioninuria
- Also called
- cystathionase deficiencycystathioninuria (disease)gamma-cystathionase deficiency