Details of Disease

General Information of Disease (ID: DISBPXCA)

• Disease Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
• Synonyms: molybdenum cofactor deficiency type A; molybdenum cofactor deficiency, complementation group A; sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of; combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A; MOCODA; molybdenum cofactor deficiency A; molybdenum cofactor deficiency, complementation group type a; MOCOD type A; molybdenum cofactor deficiency complementation group A
• Disease Hierarchy:
  DISKS8QN: Molybdenum cofactor deficiency
  DISBPXCA: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
• Disease Identifiers:
  MONDO ID: MONDO_0009643
  MESH ID: C565372
  UMLS CUI: C1854988
  OMIM ID: 252150
  MedGen ID: 381530
  Orphanet ID: 308386
  SNOMED CT ID: 1003367004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MOCS1	TTH13AB	Strong	Genetic Variation	[1]
MOCS1	TTH13AB	Definitive	Autosomal recessive	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MOCS1	OTDCTCRU	Definitive	Autosomal recessive	[2]

References

• [1] Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase.Hum Genet. 2005 Oct;117(6):565-70. doi: 10.1007/s00439-005-1341-9. Epub 2005 Jul 14.
• [2] 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.