|
CSTNU
MCID: CYS019
MIFTS: 45
|
Cystathioninuria (CSTNU)
Categories:
Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
|
|
|
|
MalaCards integrated aliases for Cystathioninuria:
Characteristics:Orphanet epidemiological data:58
cystathioninuria
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
majority of patients are pyridoxine-responsive HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Nephrological diseases
ICD10:
33
Orphanet: 58
Inborn errors of metabolism External Ids:
|
|
NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 212 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. Visit the Orphanet disease page for more resources.
MalaCards based summary : Cystathioninuria, also known as gamma-cystathionase deficiency, is related to homocystinuria and neuroblastoma. 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 neutrophil, liver and testes, and related phenotypes are cystathioninuria and intellectual disability Disease Ontology : 12 An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31. OMIM : 56 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) KEGG : 36 Hereditary cystathioninuria is caused by deficiency of the activity of cystathionine gamma-lyase, which is normally required for the conversion of methionine into cysteine. Patients with cystathioninuria may have mild to moderate hyperhomocysteinemia. UniProtKB/Swiss-Prot : 73 Cystathioninuria: Autosomal recessive phenotype characterized by abnormal accumulation of plasma cystathionine, leading to increased urinary excretion. Wikipedia : 74 Cystathioninuria, also called cystathionase deficiency, is an autosomal recessive metabolic disorder. It... more... |
Human phenotypes related to Cystathioninuria:58 31 (show all 9)
|
|
Cochrane evidence based reviews: gamma-cystathionase deficiency |
MalaCards organs/tissues related to Cystathioninuria:40
Neutrophil,
Liver,
Testes,
Brain,
Kidney,
Breast
|
Articles related to Cystathioninuria:(show top 50) (show all 121)
|
Genes related to Cystathioninuria (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Cystathioninuria:6 (show top 50) (show all 58)
UniProtKB/Swiss-Prot genetic disease variations for Cystathioninuria:73
|
|
Search
GEO
for disease gene expression data for Cystathioninuria.
|
Pathways related to Cystathioninuria according to KEGG:36
|
Biological processes related to Cystathioninuria according to GeneCards Suite gene sharing:
Molecular functions related to Cystathioninuria according to GeneCards Suite gene sharing:
|
|