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cystathioninuria

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description 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.
Uniprot Description Autosomal recessive phenotype characterized by abnormal accumulation of plasma cystathionine, leading to increased urinary excretion.
Disease Ontology Description An amino acid metabolic disorder characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in homozygous or compound heterozygous mutation in the CTH gene on chromosome 1p31.
Mondo Term and Equivalent IDs
MONDO:0009058:  cystathioninuria
GARD:0002428: 
NCIT:C129070: 
Orphanet:212: 
SCTID:13003007: 
UMLS:C0220993: 
UMLS:C0268616: 
UMLS:C3495552: