Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency

disorder

SNOMED 717048002CUI C4274078

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 liver function tests

Very frequent (80-99%)HP:0002910

Agitation

Very frequent (80-99%)HP:0000713

Congenital hypotonia

Very frequent (80-99%)HP:0001319

Elevated heart rate

Very frequent (80-99%)HP:0001649

Enlarged liver

Very frequent (80-99%)HP:0002240

Fatty acids abnormal

Very frequent (80-99%)HP:0004359

Fetal macrosomia

Very frequent (80-99%)HP:0001520

Hyperhidrosis

Very frequent (80-99%)HP:0000975

Hyperinsulinemia

Very frequent (80-99%)HP:0000842

Hyperinsulinemia hypoglycemia

Very frequent (80-99%)HP:0000825

Hypoketotic hypoglycemia

Very frequent (80-99%)HP:0001985

Inactivity

Very frequent (80-99%)HP:0001254

Increased body weight

Very frequent (80-99%)HP:0004324

Islet of Langerhans hyperplasia

Very frequent (80-99%)HP:0004510

Low blood sugar when fasting

Very frequent (80-99%)HP:0003162

Neonatal hypoglycemia

Very frequent (80-99%)HP:0001998

Paleness

Very frequent (80-99%)HP:0000980

Persistent vegetative state

Very frequent (80-99%)HP:0001259

Sleepy

Very frequent (80-99%)HP:0002329

Tiredness

Very frequent (80-99%)HP:0012378

Tremor

Very frequent (80-99%)HP:0001337

De toni-fanconi-debre syndrome

Frequent (30-79%)HP:0001994

Diarrhea

Frequent (30-79%)HP:0002014

Dull intelligence

Frequent (30-79%)HP:0001249

Elevated alkaline phosphatase

Frequent (30-79%)HP:0003155

Epilepsy

Frequent (30-79%)HP:0001250

Glucose in urine

Frequent (30-79%)HP:0003076

Hypophosphatemic rickets

Frequent (30-79%)HP:0004912

Increased hepatic glycogen content

Frequent (30-79%)HP:0006568

Metabolic ketoacidosis

Frequent (30-79%)HP:0005979

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: 717048002
UMLS CUI: C4274078
Fully Specified Name: Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.