Traits

Traits linked to GLIS3

GLIS family zinc finger 3

The Human Phenotype Ontology links 36 traits to GLIS3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the digestive system

Trait	How often it is seen
Hepatic fibrosis	Often (30–79%)
Pancreatic cysts	Sometimes (5–29%)
Stomach hernia	Sometimes (5–29%)
Umbilical hernia	Sometimes (5–29%)
Underdeveloped pancreas	Sometimes (5–29%)
Enlarged liver	Not recorded
Liver inflammation	Not recorded
Slowed or blocked flow of bile from liver	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Blockage of the rear opening of the nasal cavity	Sometimes (5–29%)
Early closure of midline skull joint	Sometimes (5–29%)
Wider-than-typical soft spot of skull	Sometimes (5–29%)
Depressed nasal bridge	Not recorded
Eye folds	Not recorded
Long philtrum	Not recorded
Thin red part of the upper lip	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Portal hypertension	Often (30–79%)
Cyst on spleen	Sometimes (5–29%)
Increased spleen size	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased circulating T4 concentration	Always
Elevated circulating thyroid-stimulating hormone concentration	Always
Underactive thyroid gland from birth	Always

Abnormality of the eye

Trait	How often it is seen
Enlarged eyeball	Often (30–79%)
High eye pressure	Often (30–79%)
Developmental glaucoma	Not recorded

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Sometimes (5–29%)
Low-set ears	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Cystic kidney disease	Often (30–79%)
Polycystic kidney dysplasia	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Osteopenia	Sometimes (5–29%)
Thoracolumbar scoliosis	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability, mild	Often (30–79%)
Global developmental delay	Not recorded

Laboratory abnormality

Trait	How often it is seen
Diabetes mellitus	Always
Elevated circulating thyroglobulin concentration	Always

Abnormality of the immune system

Trait	How often it is seen
Recurrent infections	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Always

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 GLIS3 and how often each is seen. Find out more at hpo.jax.org.

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