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	Kaip dažnai pasireiškia
Hyperinsulinemic hypoglycemia	Visada
Maturity-onset diabetes of the young	Visada
Type 1 diabetes	Visada
Abnormal circulating C-peptide concentration	Labai dažnai (80–99%)
Dehydration	Labai dažnai (80–99%)
Glucose in urine	Labai dažnai (80–99%)
High blood insulin levels while fasting	Labai dažnai (80–99%)
High blood sugar	Labai dažnai (80–99%)
Hypoketotic hypoglycemia	Labai dažnai (80–99%)
Neonatal insulin-dependent diabetes mellitus	Labai dažnai (80–99%)
Recurrent low blood sugar levels	Labai dažnai (80–99%)
Abnormal oral glucose tolerance	Dažnai (30–79%)
Glucose intolerance	Dažnai (30–79%)
High urine albumin levels	Dažnai (30–79%)
Hypoglycemic seizures	Dažnai (30–79%)
Ketonuria	Dažnai (30–79%)
Diabetes mellitus	Kartais (5–29%)
Insulin resistant diabetes	Kartais (5–29%)
Low blood sugar in newborn	Kartais (5–29%)
Noninsulin-dependent diabetes	Kartais (5–29%)
Transient neonatal diabetes mellitus	Kartais (5–29%)
Body fails to respond to insulin	Neužfiksuota
Decreased circulating C-peptide concentration	Neužfiksuota
Diabetic ketoacidosis	Neužfiksuota

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Epilepsy	Dažnai (30–79%)
Generalized myoclonic seizure	Dažnai (30–79%)
Global developmental delay	Dažnai (30–79%)
Grand mal seizures	Dažnai (30–79%)
Hand tremor	Dažnai (30–79%)
Intellectual disability	Dažnai (30–79%)
Motor delay	Dažnai (30–79%)
Neurodevelopmental delay	Dažnai (30–79%)
Apraxia	Kartais (5–29%)
Ataxia	Kartais (5–29%)
Coma	Kartais (5–29%)
Intellectual disability, severe	Kartais (5–29%)
Peripheral axonal neuropathy	Kartais (5–29%)
Abnormal nervous system physiology	Retai (1–4 %)
Abnormality of the autonomic nervous system	Retai (1–4 %)
Coma caused by low blood sugar	Neužfiksuota

Growth abnormality

Trait	Kaip dažnai pasireiškia
Prenatal growth deficiency	Visada
Small for gestational age	Visada
Faltering weight	Labai dažnai (80–99%)
Weight loss	Labai dažnai (80–99%)
Birth weight > 90th percentile	Kartais (5–29%)
Overweight	Kartais (5–29%)
Obesity	Retai (1–4 %)
Increased waist to hip ratio	Neužfiksuota

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Abnormal function of filtrating structures in kidney	Kartais (5–29%)
Abnormality of the upper urinary tract	Kartais (5–29%)
Kidney damage	Kartais (5–29%)
Abnormality of the genitourinary system	Retai (1–4 %)
Abnormality of the kidney	Retai (1–4 %)
Cystic kidney disease	Retai (1–4 %)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Reduced pancreatic beta cells	Labai dažnai (80–99%)
Underdeveloped pancreas	Kartais (5–29%)
Hepatocellular adenoma	Retai (1–4 %)
Inability to properly digest food due to lack of pancreatic digestive enzymes	Retai (1–4 %)

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Arthrogryposis multiplex congenita	Dažnai (30–79%)
Lower-limb joint contracture	Dažnai (30–79%)
Muscle weakness	Dažnai (30–79%)
Low muscle tone	Kartais (5–29%)

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Downturned corners of mouth	Dažnai (30–79%)
Prominent metopic ridge	Dažnai (30–79%)

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Depleted blood volume	Labai dažnai (80–99%)
Abnormality of the heart	Dažnai (30–79%)

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Abnormal circulating insulin concentration	Dažnai (30–79%)
Hypoinsulinemia	Dažnai (30–79%)

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Drooping of both upper eyelids	Dažnai (30–79%)
Noninflammatory retina disease	Dažnai (30–79%)

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Elevated hemoglobin A1c	Dažnai (30–79%)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Hearing impairment	Kartais (5–29%)

Abnormality of the immune system

Trait	Kaip dažnai pasireiškia
Autoimmune antibody positivity	Neužfiksuota

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Darkened and thickened skin	Neužfiksuota

Constitutional symptom

Trait	Kaip dažnai pasireiškia
Fatigue	Dažnai (30–79%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

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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