Traits

Traits linked to GCK

glucokinase

The Human Phenotype Ontology links 75 traits to GCK, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Hyperinsulinemic hypoglycemia	Always
Maturity-onset diabetes of the young	Always
Type 1 diabetes	Always
Abnormal circulating C-peptide concentration	Very often (80–99%)
Dehydration	Very often (80–99%)
Glucose in urine	Very often (80–99%)
High blood insulin levels while fasting	Very often (80–99%)
High blood sugar	Very often (80–99%)
Hypoketotic hypoglycemia	Very often (80–99%)
Neonatal insulin-dependent diabetes mellitus	Very often (80–99%)
Recurrent low blood sugar levels	Very often (80–99%)
Abnormal oral glucose tolerance	Often (30–79%)
Glucose intolerance	Often (30–79%)
High urine albumin levels	Often (30–79%)
Hypoglycemic seizures	Often (30–79%)
Ketonuria	Often (30–79%)
Diabetes mellitus	Sometimes (5–29%)
Insulin resistant diabetes	Sometimes (5–29%)
Low blood sugar in newborn	Sometimes (5–29%)
Noninsulin-dependent diabetes	Sometimes (5–29%)
Transient neonatal diabetes mellitus	Sometimes (5–29%)
Body fails to respond to insulin	Not recorded
Decreased circulating C-peptide concentration	Not recorded
Diabetic ketoacidosis	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Epilepsy	Often (30–79%)
Generalized myoclonic seizure	Often (30–79%)
Global developmental delay	Often (30–79%)
Grand mal seizures	Often (30–79%)
Hand tremor	Often (30–79%)
Intellectual disability	Often (30–79%)
Motor delay	Often (30–79%)
Neurodevelopmental delay	Often (30–79%)
Apraxia	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Coma	Sometimes (5–29%)
Intellectual disability, severe	Sometimes (5–29%)
Peripheral axonal neuropathy	Sometimes (5–29%)
Abnormal nervous system physiology	Rarely (1–4%)
Abnormality of the autonomic nervous system	Rarely (1–4%)
Coma caused by low blood sugar	Not recorded

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Always
Small for gestational age	Always
Faltering weight	Very often (80–99%)
Weight loss	Very often (80–99%)
Birth weight > 90th percentile	Sometimes (5–29%)
Overweight	Sometimes (5–29%)
Obesity	Rarely (1–4%)
Increased waist to hip ratio	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal function of filtrating structures in kidney	Sometimes (5–29%)
Abnormality of the upper urinary tract	Sometimes (5–29%)
Kidney damage	Sometimes (5–29%)
Abnormality of the genitourinary system	Rarely (1–4%)
Abnormality of the kidney	Rarely (1–4%)
Cystic kidney disease	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Reduced pancreatic beta cells	Very often (80–99%)
Underdeveloped pancreas	Sometimes (5–29%)
Hepatocellular adenoma	Rarely (1–4%)
Inability to properly digest food due to lack of pancreatic digestive enzymes	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthrogryposis multiplex congenita	Often (30–79%)
Lower-limb joint contracture	Often (30–79%)
Muscle weakness	Often (30–79%)
Low muscle tone	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Downturned corners of mouth	Often (30–79%)
Prominent metopic ridge	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Depleted blood volume	Very often (80–99%)
Abnormality of the heart	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Abnormal circulating insulin concentration	Often (30–79%)
Hypoinsulinemia	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Drooping of both upper eyelids	Often (30–79%)
Noninflammatory retina disease	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Elevated hemoglobin A1c	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Autoimmune antibody positivity	Not recorded

Abnormality of the integument

Trait	How often it is seen
Darkened and thickened skin	Not recorded

Constitutional symptom

Trait	How often it is seen
Fatigue	Often (30–79%)

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

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