Cystathioninuria

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OMIM 57 219500 Disease Ontology 12 DOID:0090142 ICD10 33 E72.1 MeSH 44 C535408 D020138 Orphanet 59 ORPHA212 UMLS via Orphanet 74 C0220993 C0268616

MESH via Orphanet 45 C535408 ICD10 via Orphanet 34 E72.1 MedGen 42 C0220993 C0268616 C3495552 KEGG 37 H00182 SNOMED-CT via HPO 69 258211005 13003007 UMLS 73 C0220993 C0268616 C3495552

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 212Disease definitionCystathioninuria 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.Visit the Orphanet disease page for more resources.

MalaCards based summary : Cystathioninuria, also known as gamma-cystathionase deficiency, is related to neuroblastoma and cystinuria. An important gene associated with Cystathioninuria is CTH (Cystathionine Gamma-Lyase), and among its related pathways/superpathways are Glycine, serine and threonine metabolism and Cysteine and methionine metabolism. Affiliated tissues include liver and testes, and related phenotype is cystathioninuria.

OMIM : ⁵⁷ 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). (219500)

UniProtKB/Swiss-Prot : ⁷⁵ Cystathioninuria: Autosomal recessive phenotype characterized by abnormal accumulation of plasma cystathionine, leading to increased urinary excretion.

Disease Ontology : ¹² 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.

Wikipedia : ⁷⁶ Cystathioninuria, also called cystathionase deficiency, is an autosomal recessivemetabolic disorder that... more...

Clinical features from OMIM:

219500

Search Clinical Trials , NIH Clinical Center for Cystathioninuria

Search GEO for disease gene expression data for Cystathioninuria.