Details of Disease | DrugMAP

General Information of Disease (ID: DISFZ9C9)

Disease Name	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Synonyms	molybdenum cofactor deficiency type C; molybdenum cofactor deficiency, complementation group C; molybdenum cofactor deficiency C; molybdenum cofactor deficiency complementation group C; MOCOD type C; combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C; MOCODC; molybdenum cofactor deficiency, complementation group type C
Definition	A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23.
Disease Hierarchy	DISKS8QN: Molybdenum cofactor deficiency DISFZ9C9: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Disease Identifiers	MONDO ID MONDO_0014212 MESH ID C565374 UMLS CUI C1854990 OMIM ID 615501 MedGen ID 340761 Orphanet ID 308400 SNOMED CT ID 1003387003

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
GPHN	OTAKK1SV	Strong	Autosomal recessive	[1]
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References

1	A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency. Am J Hum Genet. 2001 Jan;68(1):208-13. doi: 10.1086/316941. Epub 2000 Nov 28.