Molybdenum cofactor deficiency, type b

Preferred Label : Molybdenum cofactor deficiency, type b;

Symbol : MOCODB;

CISMeF acronym : MOCODB;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Molybdenum cofactor deficiency, complementation group b;

Description : Molybdenum cofactor deficiency is a rare autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood (summary by Reiss et al., 1999). For a general phenotypic description and a discussion of genetic heterogeneity of MOCOD, see MOCODA (252150), which is clinically indistinguishable from MOCODB.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the molybdenum cofactor synthesis gene 2 (MOCS2, 603708.0001);

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 : #252160;

Details

Origin ID

252160;

UMLS CUI

C1854989;

Currated CISMeF NLP mapping
- Molybdenum cofactor deficiency complementation group B (disorder) [SNOMED CT concept]
- Molybdenum cofactor deficiency, complementation group B [ICD-11 More detail]
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [ORDO Disease]
- molybdenum cofactor deficiency type B [DO Concept]
- molybdenum cofactor deficiency, complementation group B [MeSH concept]
- molybdenum cofactor deficiency, complementation group B [MeSH Supplementary Concept]
DO Cross reference
- molybdenum cofactor deficiency type B [DO Concept]
Genes related to phenotype
- Molybdenum cofactor synthesis gene 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Axonal loss [HPO term]
- Cerebral atrophy [HPO term]
- Ectopia lentis [HPO term]
- Feeding difficulties [HPO term]
- Frontal bossing [HPO term]
- Full cheeks [HPO term]
- Gliosis [HPO term]
- Growth delay [HPO term]
- Hypertelorism [HPO term]
- Hypertonia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypouricemia [HPO term]
- Increased urinary hypoxanthine [HPO term]
- Increased urinary taurine [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]
- Seizure [HPO term]
- Short nose [HPO term]
- Spastic tetraplegia [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 B [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Molybdenum cofactor deficiency complementation group B (disorder) [SNOMED CT concept]
- Molybdenum cofactor deficiency, complementation group B [ICD-11 More detail]
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [ORDO Disease]
- molybdenum cofactor deficiency type B [DO Concept]
- molybdenum cofactor deficiency, complementation group B [MeSH concept]
- molybdenum cofactor deficiency, complementation group B [MeSH Supplementary Concept]

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