Cystathioninuria

General Information (adopted from Orphanet):

Synonyms, Signs: cystathionase deficiency
Cystathione gamma - lyase deficiency
Gamma-cystathionase deficiency
Number of Symptoms 4
OrphanetNr: 212
OMIM Id: 219500
ICD-10: E72.1
UMLs: C0220993
C0268616
MeSH: C535408
MedDRA:
Snomed: 13003007
367036006
6885006

Prevalence, inheritance and age of onset:

Prevalence: 7 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of methionine cycle and sulfur amino acid metabolism
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003153) Cystathioninuria 5 / 7739
2
 (OMIM) Hepatic gamma-cystathionase deficiency 1 / 7739
3
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
4
 (OMIM) Mental retardation, but majority of patients are normal 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Molecular genetics OMIM From genomic DNA, Wang and Hegele (2003) sequenced the CTH gene in 4 unrelated probands with cystathioninuria. They found 2 nonsense and 2 missense mutations (607657.0001-607657.0004). All affected subjects were either homozygotes or compound heterozygotes.

Tadiboyina ...
Population genetics OMIM Screening surveys of neonatal urine samples have estimated the prevalence of cystathioninuria at 1 per 14,000 live births (Wong et al., 1979), with somewhat lower incidence in other reports (Wilcken et al., 1980; Lemieux et al., 1988).