Traits

Traits linked to MAFA

MAF bZIP transcription factor A

The Human Phenotype Ontology links 7 traits to MAFA, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Noninsulin-dependent diabetes	Often (30–79%)
Impaired glucose tolerance	Sometimes (5–29%)
Hyperinsulinemic hypoglycemia	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Insulinoma	Often (30–79%)
Multiple pancreatic beta-cell adenomas	Not recorded

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye at birth	Sometimes (5–29%)
Developmental glaucoma	Sometimes (5–29%)

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.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to MAFA and how often each is seen. Find out more at hpo.jax.org.

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