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cystathioninuria - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cystathioninuria

MONDO:0009058

Also known as:Cystathione gamma-lyase deficiency syndromecystathionase deficiencycystathioninuria (disease)

Overview

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.

GeneticsAutosomal recessive · CTH (chr 1)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Cystathioninuria; and common findings: Intellectual disability, Seizure, and Cystathioninemia. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Intellectual disability, Seizure, Tremor

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CTH encodes cystathionine gamma-lyase (405 aa). Catalyzes the last step in the trans-sulfuration pathway from L-methionine to L-cysteine in a pyridoxal-5'-phosphate (PLP)-dependent manner, which consists on cleaving the L,L-cystathionine molecule into L-cysteine, ammonia and 2-oxobutanoate. Highest expression in Liver (44.9 TPM) and Ovary (21.5 TPM).

Cystathioninuria is caused by mutations in the CTH gene on chromosome 1.

The CTH protein participates in PXLP-K212-CTH tetramer, SeCysta is hydrolysed to Sec by PXLP-K212-CTH, and MeSec is hydrolysed to MeSeH by PXLP-K212-CTH pathways.

CTH is classified as a druggable target (Enzyme category) with score 6.5.

Diagnosis

Genetic testing for CTH is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 3 common features.

Estimated prevalence: 1-9 in 100,000 (Uncommon).

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 3:18 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:219500

Orphanet

European rare disease database

Orphanet:212

GARD

Genetic and Rare Diseases Info Center

GARD:2428

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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cystathioninuria

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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