Hyperinsulinism due to uncoupling protein 2 deficiency

disorder

SNOMED 721834007CUI C4303082

Overview

Hyperinsulinism due to uncoupling protein 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.

Decreased circulating free fatty acid level

Very frequent (80-99%)HP:0040299

Excessive insulin response to glucagon test

Very frequent (80-99%)HP:0031084

Hyperinsulinemia hypoglycemia

Very frequent (80-99%)HP:0000825

Hypoglycemic episodes

Very frequent (80-99%)HP:0001988

Hypoketotic hypoglycemia

Very frequent (80-99%)HP:0001985

Increased C-peptide level

Very frequent (80-99%)HP:0030796

Low blood sugar after a meal

Very frequent (80-99%)HP:0012051

Agitation

Frequent (30-79%)HP:0000713

Elevated heart rate

Frequent (30-79%)HP:0001649

Episodic hyperhidrosis

Frequent (30-79%)HP:0001069

Fetal macrosomia

Frequent (30-79%)HP:0001520

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

Diffuse pancreatic islet hyperplasia

Occasional (5-29%)HP:0031224

Dullness

Occasional (5-29%)HP:0001254

Enlarged liver

Occasional (5-29%)HP:0002240

Fainting

Occasional (5-29%)HP:0007185

Feeding difficulties

Occasional (5-29%)HP:0011968

Hypoglycemic coma

Occasional (5-29%)HP:0001325

Hypoglycemic seizures

Occasional (5-29%)HP:0002173

Increased appetite

Occasional (5-29%)HP:0002591

Prolonged seizure

Occasional (5-29%)HP:0002133

Syncope

Occasional (5-29%)HP:0001279

Related Conditions

Autosomal dominant hereditary disorder(parent)

Digestive system hereditary disorder(parent)

Hereditary disorder of endocrine system(parent)

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

Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form(parent)

Neonatal metabolic disorder(parent)

Neonatal disorder of endocrine system(parent)

Quick Facts

SNOMED CT: 721834007
UMLS CUI: C4303082
Fully Specified Name: Hyperinsulinism due to uncoupling protein 2 deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 26

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.