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GENATLAS PHENOTYPE
last update : 15-05-2013
Symbol MOCODA
Location 6p21.2
Name molybdenum cofactor deficiency, type A
Other name(s)
  • sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of
  • Corresponding gene MOCS1
    Other symbol(s) MOCOD, MOCS1
    Main clinical features
  • fatal disorder characterized by severe seizures, profound neurological abnormalities, facial dysmorphism and a combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/metal
    Type disease
    Gene product
    Name molybdenum cofactor synthesis step 1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function predominant mutations (418+1G-A), R319Q, 1523 del G (MOCS1B)
    imprinting defect   other maternal uniparental isodisomy (PMID: 20573177)
    Remark(s)