Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency

disorder

SNOMED 721234004CUI C4303475

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.

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

Hypotonia, in neonatal onset

Very frequent (80-99%)HP:0001319

Increased C-peptide level

Very frequent (80-99%)HP:0030796

Neonatal hypoglycemia

Very frequent (80-99%)HP:0001998

Agitation

Frequent (30-79%)HP:0000713

Elevated heart rate

Frequent (30-79%)HP:0001649

Episodic hyperhidrosis

Frequent (30-79%)HP:0001069

Hyperinsulinemia

Frequent (30-79%)HP:0000842

Hypoglycemic seizures

Frequent (30-79%)HP:0002173

Hypoketotic hypoglycemia

Frequent (30-79%)HP:0001985

Large for gestational age

Frequent (30-79%)HP:0001520

Low blood sugar after a meal

Frequent (30-79%)HP:0012051

Low blood sugar when fasting

Frequent (30-79%)HP:0003162

Maturity onset diabetes of the young

Frequent (30-79%)HP:0004904

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

Birth weight less than 10th percentile

Occasional (5-29%)HP:0001518

Dullness

Occasional (5-29%)HP:0001254

Fainting

Occasional (5-29%)HP:0007185

Feeding difficulties

Occasional (5-29%)HP:0011968

Hyperphagia

Occasional (5-29%)HP:0002591

Hypoglycemic coma

Occasional (5-29%)HP:0001325

Ketotic hypoglycemia

Occasional (5-29%)HP:0012734

Syncope

Occasional (5-29%)HP:0001279

Enlarged liver

Very rare (1-4%)HP:0002240

Related Conditions

Autosomal dominant hereditary disorder(parent)

Digestive system hereditary disorder(parent)

Hereditary disorder of endocrine system(parent)

Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form(parent)

Quick Facts

SNOMED CT: 721234004
UMLS CUI: C4303475
Fully Specified Name: Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.