molybdenum cofactor deficiency type A

Summary
Synonym
  • MOCOD type A
  • MOCODA
  • combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A
  • molybdenum cofactor deficiency complementation group A
Definition
A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21.
Super Class
molybdenum cofactor deficiency
External Links
Disease Ontology
DOID:0111164
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
2752 GLUL glutamate-ammonia ligase
4860 PNP purine nucleoside phosphorylase
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
P00491 Purine nucleoside phosphorylase
P15104 Glutamine synthetase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024