|
CSTNU
MCID: CYS019
MIFTS: 43
|
Cystathioninuria (CSTNU)
Categories:
Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
|
|
|
|
MalaCards integrated aliases for Cystathioninuria:
Characteristics:Orphanet epidemiological data:59
cystathioninuria
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
majority of patients are pyridoxine-responsive HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Nephrological diseases
ICD10:
34
External Ids:
|
|
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 hepatoblastoma. 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, testes and placenta, and related phenotypes are cystathioninuria and renal/urinary system 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. 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. Wikipedia : 76 Cystathioninuria, also called cystathionase deficiency, is an autosomal recessivemetabolic disorder that... more... |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:219500Human phenotypes related to Cystathioninuria:32
|
|
Cochrane evidence based reviews: gamma-cystathionase deficiency |
MalaCards organs/tissues related to Cystathioninuria:41
Liver,
Testes,
Placenta
|
Articles related to Cystathioninuria:(show top 50) (show all 66)
|
Genes related to Cystathioninuria (1 elite genes):(show all 13) - Elite gene
- Cancer Census gene in COSMIC
|
UniProtKB/Swiss-Prot genetic disease variations for Cystathioninuria:75
ClinVar genetic disease variations for Cystathioninuria:6 (show top 50) (show all 74)
|
|
Search
GEO
for disease gene expression data for Cystathioninuria.
|
Pathways related to Cystathioninuria according to KEGG:37
Pathways related to Cystathioninuria according to GeneCards Suite gene sharing:
|
Biological processes related to Cystathioninuria according to GeneCards Suite gene sharing:
Molecular functions related to Cystathioninuria according to GeneCards Suite gene sharing:
|
|