Autosomal dominant hyperinsulinism due to Kir6.2 deficiency

disorder

SNOMED 717045004CUI C4274081

Overview

Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

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

Excessive insulin response to glucagon test

Very frequent (80-99%)HP:0031084

Hyperinsulinemia

Very frequent (80-99%)HP:0000842

Hyperinsulinemia hypoglycemia

Very frequent (80-99%)HP:0000825

Hypoketotic hypoglycemia

Very frequent (80-99%)HP:0001985

Increased C-peptide level

Very frequent (80-99%)HP:0030796

Low blood sugar when fasting

Very frequent (80-99%)HP:0003162

Abnormal oral glucose tolerance

Frequent (30-79%)HP:0004924

Agitation

Frequent (30-79%)HP:0000713

Diffuse pancreatic islet hyperplasia

Frequent (30-79%)HP:0031224

Elevated heart rate

Frequent (30-79%)HP:0001649

Episodic hyperhidrosis

Frequent (30-79%)HP:0001069

Fetal macrosomia

Frequent (30-79%)HP:0001520

Hypoglycemic seizures

Frequent (30-79%)HP:0002173

Neurodevelopmental abnormality

Frequent (30-79%)HP:0012759

Paleness

Frequent (30-79%)HP:0000980

Palpitations

Frequent (30-79%)HP:0001962

Sleepy

Frequent (30-79%)HP:0002329

Cardiomyopathy, hypertrophic

Occasional (5-29%)HP:0001639

Dullness

Occasional (5-29%)HP:0001254

Enlarged liver

Occasional (5-29%)HP:0002240

Feeding difficulties

Occasional (5-29%)HP:0011968

Hypoglycemic coma

Occasional (5-29%)HP:0001325

Increased appetite

Occasional (5-29%)HP:0002591

Loss of consciousness

Occasional (5-29%)HP:0007185

Muscle weakness

Occasional (5-29%)HP:0001324

Prolonged seizure

Occasional (5-29%)HP:0002133

Syncope

Occasional (5-29%)HP:0001279

Type I diabetes mellitus

Very rare (1-4%)HP:0100651

Related Conditions

Autosomal dominant hereditary disorder(parent)

Hereditary disorder of endocrine system(parent)

Digestive system hereditary disorder(parent)

Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form(parent)

Quick Facts

SNOMED CT: 717045004
UMLS CUI: C4274081
Fully Specified Name: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 28

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.