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Trait

Molybdenum cofactor deficiency

Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase.

HPO HP:0003570

Summary

Body system
Laboratory abnormality

3 genes linked to Molybdenum cofactor deficiency

Changes in these genes cause rare conditions in which Molybdenum cofactor deficiency is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

GeneHow often it is seenConditions
GPHNgephyrinAlwaysIn 1 condition
MOCS1molybdenum cofactor synthesis 1Not recordedIn 1 condition
MOCS2molybdenum cofactor synthesis 2Not recordedIn 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Abnormal circulating enzyme concentration or activity

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

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