Traits

Traits linked to GK

glycerol kinase

The Human Phenotype Ontology links 34 traits to GK, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Higher than normal levels of lactate in blood	Always
Hyperglycerolemia	Always
Increased urinary glycerol	Always
Metabolic acidosis	Always
Reduced glycerol kinase activity in cultured fibroblasts	Always
Increased plasma triglycerides	Not recorded
Ketoacidosis	Not recorded
Low blood sugar	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Very often (80–99%)
Intellectual disability	Often (30–79%)
Epilepsy	Sometimes (5–29%)
Coma	Not recorded
Lethargy	Not recorded
Loss of consciousness	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Nausea	Always
Vomiting	Always
Chronic pancreas inflammation	Sometimes (5–29%)
Episodic vomiting	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Muscle tissue disease	Not recorded
Muscular dystrophy	Not recorded
Osteoporosis	Not recorded
Spontaneous fracture	Not recorded

Growth abnormality

Trait	How often it is seen
Growth delay	Not recorded
Short stature	Not recorded
Small for gestational age	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Downturned corners of mouth	Not recorded
Frontal bossing	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Adrenal insufficiency	Always
Small adrenal cortex	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Not recorded
Wide-set eyes	Not recorded

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Muscle ache	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 GK and how often each is seen. Find out more at hpo.jax.org.

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