Hyperinsulinism due to deficiency of glucokinase

disorder

SNOMED 717182006CUI C4274019

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal circulating C-peptide concentration

Very frequent (80-99%)HP:0030794

Fasting hyperinsulinemia

Very frequent (80-99%)HP:0008283

Hyperinsulinemia hypoglycemia

Very frequent (80-99%)HP:0000825

Hypoglycemic episodes

Very frequent (80-99%)HP:0001988

Hypoketotic hypoglycemia

Very frequent (80-99%)HP:0001985

Epilepsy

Frequent (30-79%)HP:0001250

Muscle weakness

Frequent (30-79%)HP:0001324

Tiredness

Frequent (30-79%)HP:0012378

tremors in hands

Frequent (30-79%)HP:0002378

NIDDM

Occasional (5-29%)HP:0005978

Unconsciousness

Occasional (5-29%)HP:0001259

Abnormal nervous system physiology

Very rare (1-4%)HP:0012638

Abnormality of the autonomic nervous system

Very rare (1-4%)HP:0002270

Related Conditions

Autosomal dominant hereditary disorder(parent)

Hereditary disorder of endocrine system(parent)

Digestive system hereditary disorder(parent)

Congenital disease(parent)

Disorder of digestive system specific to fetus OR newborn(parent)

Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form(parent)

Quick Facts

SNOMED CT: 717182006
UMLS CUI: C4274019
Fully Specified Name: Hyperinsulinism due to deficiency of glucokinase (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 13

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.