Details of Disease

General Information of Disease (ID: DISOUZ3T)

Disease Name Cystathioninuria
Synonyms Cystathione gamma-lyase deficiency syndrome; cystathioninuria; cystathione gamma-lyase deficiency syndrome; cystathioninuria (disease); cystathionase deficiency; gamma-cystathionase deficiency
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.
Disease Hierarchy
DISFWXCM: Inborn disorder of amino acid metabolism
DISUP794: Inborn disorder of methionine cycle and sulfur amino acid metabolism
DISOUZ3T: Cystathioninuria
Disease Identifiers
MONDO ID
MONDO_0009058
UMLS CUI
C0220993
OMIM ID
219500
MedGen ID
66353
HPO ID
HP:0003153
Orphanet ID
212
SNOMED CT ID
13003007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CTH TTLQUZS Definitive Autosomal recessive [1]
CTH TTLQUZS Definitive Biomarker [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DGUOK OT78HUZB Strong Genetic Variation [3]
CTH OTC90LA0 Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2 Preeclampsia-Like Features and Partial Lactation Failure in Mice Lacking Cystathionine -Lyase-An Animal Model of Cystathioninuria.Int J Mol Sci. 2019 Jul 17;20(14):3507. doi: 10.3390/ijms20143507.
3 Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria.Am J Med Genet A. 2005 Jun 15;135(3):289-91. doi: 10.1002/ajmg.a.30748.