Molybdenum cofactor deficiency, complementation group a

Preferred Label : Molybdenum cofactor deficiency, complementation group a;

Symbol : MOCODA;

CISMeF acronym : MOCODA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of;

Description : Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation. Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency of xanthine dehydrogenase (XDH; 607633) and sulfite oxidase (SUOX; 606887), both of which use molybdenum as a cofactor. Most affected individuals die in early childhood (summary by Reiss, 2000; Reiss et al., 2011). - Genetic Heterogeneity of Molybdenum Cofactor Deficiency See also MOCOD, complementation group B (MOCODB; 252160), caused by mutation in the MOCS2 gene (602708) on chromosome 5q11; and MOCOD, complementation group C (MOCODC; 615501), caused by mutation in the GPHN gene (603930) on chromosome 14q24.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the molybdenum cofactor synthesis gene 1 (MOCS1, 603707.0001);

Laboratory abnormalities : Decreased xanthine dehydrogenase activity; Decreased sulfite oxidase activity; Hypouricemia; Molybdenum cofactor deficiency; Increased urinary hypoxanthine; Increased urinary taurine; Increased urinary S-sulfocysteine; Xanthine stones; Increased urinary xanthine;

Prefixed ID : #252150;

Details

Origin ID

252150;

UMLS CUI

C1854988;

Automatic exact mappings (from CISMeF team)
- Encephalopathy due to sulfite oxidase deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Molybdenum cofactor deficiency complementation group A (disorder) [SNOMED CT concept]
- Molybdenum cofactor deficiency, complementation group A [ICD-11 More detail]
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency [ICD-11 More detail]
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ORDO Disease]
- molybdenum cofactor deficiency type A [DO Concept]
- molybdenum cofactor deficiency, complementation group A [MeSH Supplementary Concept]
- molybdenum cofactor deficiency, complementation group A [MeSH concept]
DO Cross reference
- molybdenum cofactor deficiency type A [DO Concept]
Genes related to phenotype
- Molybdenum cofactor synthesis gene 1 [OMIM gene]
HPO term(s)
- Abnormal muscle tone [HPO term]
- Absent urinary urothione [HPO term]
- Aldehyde oxidase deficiency [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axonal loss [HPO term]
- Cerebral atrophy [HPO term]
- Decreased urinary sulfate [HPO term]
- Decreased urinary urate [HPO term]
- Ectopia lentis [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Frontal bossing [HPO term]
- Full cheeks [HPO term]
- Gliosis [HPO term]
- Growth delay [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypouricemia [HPO term]
- Increased urinary hypoxanthine [HPO term]
- Increased urinary sulfite [HPO term]
- Increased urinary taurine [HPO term]
- Increased urinary thiosulfate [HPO term]
- Intellectual disability [HPO term]
- Lens dislocation [HPO term]
- Lens luxation [HPO term]
- Long face [HPO term]
- Long philtrum [HPO term]
- Macrocephaly [HPO term]
- Microcephaly [HPO term]
- Molybdenum cofactor deficiency [HPO term]
- Myoclonic spasms [HPO term]
- Nystagmus [HPO term]
- Opisthotonus [HPO term]
- Peripheral demyelination [HPO term]
- Progressive [HPO term]
- Reduced xanthine dehydrogenase level [HPO term]
- Seizure [HPO term]
- Short nose [HPO term]
- Spastic tetraparesis [HPO term]
- Spastic tetraplegia [HPO term]
- Sulfite oxidase deficiency [HPO term]
- Thick vermilion border [HPO term]
- Ventriculomegaly [HPO term]
- Xanthine nephrolithiasis [HPO term]
- Xanthinuria [HPO term]
ORDO concept(s)
- Encephalopathy due to sulfite oxidase deficiency [ORDO Disease]
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency [ORDO Disease]
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ORDO Disease]
See also inter- (CISMeF)
- Combined molybdoflavoprotein enzyme deficiency (disorder) [SNOMED CT concept]
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency [ORDO Disease]
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [ORDO Disease]
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [ORDO Disease]
- combined molybdoflavoprotein enzyme deficiency [SNOMED Notion]
- molybdenum cofactor deficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Molybdenum cofactor deficiency complementation group A (disorder) [SNOMED CT concept]
- Molybdenum cofactor deficiency, complementation group A [ICD-11 More detail]
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ORDO Disease]
- molybdenum cofactor deficiency type A [DO Concept]
- molybdenum cofactor deficiency, complementation group A [MeSH concept]
- molybdenum cofactor deficiency, complementation group A [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Molybdenum Cofactor Deficiency [NCIt concept]
- Molybdenum cofactor deficiency [HPO term]
- Molybdenum cofactor deficiency [MeSH concept]
- Molybdenum cofactor deficiency [MedDRA Preferred Term]
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency [ORDO Disease]
- molybdenum cofactor deficiency [Disease (Nov.)]
- molybdenum cofactor deficiency [DO Concept]
- molybdenum cofactor deficiency [MeSH Supplementary Concept]

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