Trait

Abnormal hypothalamus physiology

An abnormal functionality of the hypothalamus.

Body system: Abnormality of the endocrine system Abnormality of the nervous system

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30 genes linked to Abnormal hypothalamus physiology

Changes in these genes cause rare conditions in which Abnormal hypothalamus physiology 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.

Gene	How often it is seen	Conditions
CDONcell adhesion associated, oncogene regulated	Often (30–79%)	In 4 conditions
CRIPTOcripto, EGF-CFC family member	Often (30–79%)	In 4 conditions
DISP1dispatched RND transporter family member 1	Often (30–79%)	In 4 conditions
DLL1delta like canonical Notch ligand 1	Often (30–79%)	In 4 conditions
FGF8fibroblast growth factor 8	Often (30–79%)	In 4 conditions
FGFR1fibroblast growth factor receptor 1	Often (30–79%)	In 2 conditions
FOXH1forkhead box H1	Often (30–79%)	In 4 conditions
GAS1growth arrest specific 1	Often (30–79%)	In 4 conditions
GLI2GLI family zinc finger 2	Often (30–79%)	In 4 conditions
NODALnodal growth differentiation factor	Often (30–79%)	In 4 conditions
PLCH1phospholipase C eta 1	Often (30–79%)	In 1 condition
PTCH1patched 1	Often (30–79%)	In 4 conditions
SHHsonic hedgehog signaling molecule	Often (30–79%)	In 4 conditions
SIX3SIX homeobox 3	Often (30–79%)	In 4 conditions
SMC1Astructural maintenance of chromosomes 1A	Often (30–79%)	In 1 condition
STAG2STAG2 cohesin complex component	Often (30–79%)	In 2 conditions
STILSTIL centriolar assembly protein	Often (30–79%)	In 4 conditions
TGIF1TGFB induced factor homeobox 1	Often (30–79%)	In 4 conditions
ZIC2Zic family zinc finger 2	Often (30–79%)	In 4 conditions
AKT1AKT serine/threonine kinase 1	Sometimes (5–29%)	In 1 condition
BAP1BRCA1 associated deubiquitinase 1	Sometimes (5–29%)	In 1 condition
NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	Sometimes (5–29%)	In 1 condition
PDGFBplatelet derived growth factor subunit B	Sometimes (5–29%)	In 1 condition
PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	Sometimes (5–29%)	In 1 condition
SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1	Sometimes (5–29%)	In 1 condition
SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1	Sometimes (5–29%)	In 1 condition
SMOsmoothened, frizzled class receptor	Sometimes (5–29%)	In 1 condition
SUFUSUFU negative regulator of hedgehog signaling	Sometimes (5–29%)	In 1 condition
TERTtelomerase reverse transcriptase	Sometimes (5–29%)	In 1 condition
TRAF7TNF receptor associated factor 7	Sometimes (5–29%)	In 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.

Narrower traits

Broader traits

Abnormal diencephalon morphology Abnormal nervous system physiology Abnormality of the hypothalamus-pituitary axis

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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