Details of Disease

General Information of Disease (ID: DISOJMSO)

Disease Name Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
Synonyms disulfiduria, mixed; Beta-mercaptolactate cysteine disulfiduria; mercaptolactate-cysteine disulfiduria; MCDU; Ampola syndrome; 3-mercaptopyruvate sulfurtransferase deficiency
Disease Hierarchy
DISPN7D2: Inherited neurodegenerative disorder
DISOJMSO: Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
Disease Identifiers
MONDO ID
MONDO_0009585
MESH ID
C563085
UMLS CUI
C0796055
OMIM ID
249650
MedGen ID
208661
Orphanet ID
1035
SNOMED CT ID
784373007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MPST OTCDPH5D No Known 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.