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Trait

Pituitary dwarfism

A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones.

HPO HP:0000839

Summary

Body system
Growth abnormality

10 genes linked to Pituitary dwarfism

Changes in these genes cause rare conditions in which Pituitary dwarfism 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
FOXA2forkhead box A2Sometimes (5–29%)In 1 condition
GLI2GLI family zinc finger 2Sometimes (5–29%)In 1 condition
HESX1HESX homeobox 1Sometimes (5–29%)In 2 conditions
LHX3LIM homeobox 3Sometimes (5–29%)In 2 conditions
LHX4LIM homeobox 4Sometimes (5–29%)In 3 conditions
OTX2orthodenticle homeobox 2Sometimes (5–29%)In 1 condition
POU1F1POU class 1 homeobox 1Sometimes (5–29%)In 2 conditions
PROP1PROP paired-like homeobox 1Sometimes (5–29%)In 3 conditions
SOX3SRY-box transcription factor 3Sometimes (5–29%)In 2 conditions
GH1growth hormone 1Not recordedIn 2 conditions

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

Short stature

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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