Treceți la conținut
Folosiți fondurile HSA sau FSA

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

TraitCât de frecvent apare
Hyperinsulinemic hypoglycemiaÎntotdeauna
Maturity-onset diabetes of the youngÎntotdeauna
Type 1 diabetesÎntotdeauna
Abnormal circulating C-peptide concentrationFoarte des (80–99%)
DehydrationFoarte des (80–99%)
Glucose in urineFoarte des (80–99%)
High blood insulin levels while fastingFoarte des (80–99%)
High blood sugarFoarte des (80–99%)
Hypoketotic hypoglycemiaFoarte des (80–99%)
Neonatal insulin-dependent diabetes mellitusFoarte des (80–99%)
Recurrent low blood sugar levelsFoarte des (80–99%)
Abnormal oral glucose toleranceDes (30–79%)
Glucose intoleranceDes (30–79%)
High urine albumin levelsDes (30–79%)
Hypoglycemic seizuresDes (30–79%)
KetonuriaDes (30–79%)
Diabetes mellitusUneori (5–29%)
Insulin resistant diabetesUneori (5–29%)
Low blood sugar in newbornUneori (5–29%)
Noninsulin-dependent diabetesUneori (5–29%)
Transient neonatal diabetes mellitusUneori (5–29%)
Body fails to respond to insulinNeînregistrat
Decreased circulating C-peptide concentrationNeînregistrat
Diabetic ketoacidosisNeînregistrat

Abnormality of the nervous system

TraitCât de frecvent apare
EpilepsyDes (30–79%)
Generalized myoclonic seizureDes (30–79%)
Global developmental delayDes (30–79%)
Grand mal seizuresDes (30–79%)
Hand tremorDes (30–79%)
Intellectual disabilityDes (30–79%)
Motor delayDes (30–79%)
Neurodevelopmental delayDes (30–79%)
ApraxiaUneori (5–29%)
AtaxiaUneori (5–29%)
ComaUneori (5–29%)
Intellectual disability, severeUneori (5–29%)
Peripheral axonal neuropathyUneori (5–29%)
Abnormal nervous system physiologyRar (1–4%)
Abnormality of the autonomic nervous systemRar (1–4%)
Coma caused by low blood sugarNeînregistrat

Growth abnormality

TraitCât de frecvent apare
Prenatal growth deficiencyÎntotdeauna
Small for gestational ageÎntotdeauna
Faltering weightFoarte des (80–99%)
Weight lossFoarte des (80–99%)
Birth weight > 90th percentileUneori (5–29%)
OverweightUneori (5–29%)
ObesityRar (1–4%)
Increased waist to hip ratioNeînregistrat

Abnormality of the genitourinary system

TraitCât de frecvent apare
Abnormal function of filtrating structures in kidneyUneori (5–29%)
Abnormality of the upper urinary tractUneori (5–29%)
Kidney damageUneori (5–29%)
Abnormality of the genitourinary systemRar (1–4%)
Abnormality of the kidneyRar (1–4%)
Cystic kidney diseaseRar (1–4%)

Abnormality of the digestive system

TraitCât de frecvent apare
Reduced pancreatic beta cellsFoarte des (80–99%)
Underdeveloped pancreasUneori (5–29%)
Hepatocellular adenomaRar (1–4%)
Inability to properly digest food due to lack of pancreatic digestive enzymesRar (1–4%)

Abnormality of the musculoskeletal system

TraitCât de frecvent apare
Arthrogryposis multiplex congenitaDes (30–79%)
Lower-limb joint contractureDes (30–79%)
Muscle weaknessDes (30–79%)
Low muscle toneUneori (5–29%)

Abnormality of head or neck

TraitCât de frecvent apare
Downturned corners of mouthDes (30–79%)
Prominent metopic ridgeDes (30–79%)

Abnormality of the cardiovascular system

TraitCât de frecvent apare
Depleted blood volumeFoarte des (80–99%)
Abnormality of the heartDes (30–79%)

Abnormality of the endocrine system

TraitCât de frecvent apare
Abnormal circulating insulin concentrationDes (30–79%)
HypoinsulinemiaDes (30–79%)

Abnormality of the eye

TraitCât de frecvent apare
Drooping of both upper eyelidsDes (30–79%)
Noninflammatory retina diseaseDes (30–79%)

Abnormality of blood and blood-forming tissues

TraitCât de frecvent apare
Elevated hemoglobin A1cDes (30–79%)

Abnormality of the ear

TraitCât de frecvent apare
Hearing impairmentUneori (5–29%)

Abnormality of the immune system

TraitCât de frecvent apare
Autoimmune antibody positivityNeînregistrat

Abnormality of the integument

TraitCât de frecvent apare
Darkened and thickened skinNeînregistrat

Constitutional symptom

TraitCât de frecvent apare
FatigueDes (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

  • 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.

Un test. Răspunsuri pentru o viață.

De la 449 $Livrare gratuită · Rezultate în 6–8 săptămâni

Comandați Genome Test-ul meu