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	Hvor ofte den forekommer
Hyperinsulinemic hypoglycemia	Alltid
Maturity-onset diabetes of the young	Alltid
Type 1 diabetes	Alltid
Abnormal circulating C-peptide concentration	Svært ofte (80–99 %)
Dehydration	Svært ofte (80–99 %)
Glucose in urine	Svært ofte (80–99 %)
High blood insulin levels while fasting	Svært ofte (80–99 %)
High blood sugar	Svært ofte (80–99 %)
Hypoketotic hypoglycemia	Svært ofte (80–99 %)
Neonatal insulin-dependent diabetes mellitus	Svært ofte (80–99 %)
Recurrent low blood sugar levels	Svært ofte (80–99 %)
Abnormal oral glucose tolerance	Ofte (30–79 %)
Glucose intolerance	Ofte (30–79 %)
High urine albumin levels	Ofte (30–79 %)
Hypoglycemic seizures	Ofte (30–79 %)
Ketonuria	Ofte (30–79 %)
Diabetes mellitus	Noen ganger (5–29 %)
Insulin resistant diabetes	Noen ganger (5–29 %)
Low blood sugar in newborn	Noen ganger (5–29 %)
Noninsulin-dependent diabetes	Noen ganger (5–29 %)
Transient neonatal diabetes mellitus	Noen ganger (5–29 %)
Body fails to respond to insulin	Ikke registrert
Decreased circulating C-peptide concentration	Ikke registrert
Diabetic ketoacidosis	Ikke registrert

Abnormality of the nervous system

Trait	Hvor ofte den forekommer
Epilepsy	Ofte (30–79 %)
Generalized myoclonic seizure	Ofte (30–79 %)
Global developmental delay	Ofte (30–79 %)
Grand mal seizures	Ofte (30–79 %)
Hand tremor	Ofte (30–79 %)
Intellectual disability	Ofte (30–79 %)
Motor delay	Ofte (30–79 %)
Neurodevelopmental delay	Ofte (30–79 %)
Apraxia	Noen ganger (5–29 %)
Ataxia	Noen ganger (5–29 %)
Coma	Noen ganger (5–29 %)
Intellectual disability, severe	Noen ganger (5–29 %)
Peripheral axonal neuropathy	Noen ganger (5–29 %)
Abnormal nervous system physiology	Sjelden (1–4%)
Abnormality of the autonomic nervous system	Sjelden (1–4%)
Coma caused by low blood sugar	Ikke registrert

Growth abnormality

Trait	Hvor ofte den forekommer
Prenatal growth deficiency	Alltid
Small for gestational age	Alltid
Faltering weight	Svært ofte (80–99 %)
Weight loss	Svært ofte (80–99 %)
Birth weight > 90th percentile	Noen ganger (5–29 %)
Overweight	Noen ganger (5–29 %)
Obesity	Sjelden (1–4%)
Increased waist to hip ratio	Ikke registrert

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Abnormal function of filtrating structures in kidney	Noen ganger (5–29 %)
Abnormality of the upper urinary tract	Noen ganger (5–29 %)
Kidney damage	Noen ganger (5–29 %)
Abnormality of the genitourinary system	Sjelden (1–4%)
Abnormality of the kidney	Sjelden (1–4%)
Cystic kidney disease	Sjelden (1–4%)

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Reduced pancreatic beta cells	Svært ofte (80–99 %)
Underdeveloped pancreas	Noen ganger (5–29 %)
Hepatocellular adenoma	Sjelden (1–4%)
Inability to properly digest food due to lack of pancreatic digestive enzymes	Sjelden (1–4%)

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Arthrogryposis multiplex congenita	Ofte (30–79 %)
Lower-limb joint contracture	Ofte (30–79 %)
Muscle weakness	Ofte (30–79 %)
Low muscle tone	Noen ganger (5–29 %)

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Downturned corners of mouth	Ofte (30–79 %)
Prominent metopic ridge	Ofte (30–79 %)

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Depleted blood volume	Svært ofte (80–99 %)
Abnormality of the heart	Ofte (30–79 %)

Abnormality of the endocrine system

Trait	Hvor ofte den forekommer
Abnormal circulating insulin concentration	Ofte (30–79 %)
Hypoinsulinemia	Ofte (30–79 %)

Abnormality of the eye

Trait	Hvor ofte den forekommer
Drooping of both upper eyelids	Ofte (30–79 %)
Noninflammatory retina disease	Ofte (30–79 %)

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte den forekommer
Elevated hemoglobin A1c	Ofte (30–79 %)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Hearing impairment	Noen ganger (5–29 %)

Abnormality of the immune system

Trait	Hvor ofte den forekommer
Autoimmune antibody positivity	Ikke registrert

Abnormality of the integument

Trait	Hvor ofte den forekommer
Darkened and thickened skin	Ikke registrert

Constitutional symptom

Trait	Hvor ofte den forekommer
Fatigue	Ofte (30–79 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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