Overview
Hyperinsulinism and hyperammonemia syndrome 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.
Asymptomatic hyperammonemia
Very frequent (80-99%)HP:0008162
Low blood sugar after a meal
Very frequent (80-99%)HP:0012051
Postnatal failure to thrive
Very frequent (80-99%)HP:0001508
Childhood attention deficit/hyperactivity disorder
Frequent (30-79%)HP:0007018
EEG with generalized epileptiform discharges
Frequent (30-79%)HP:0011198
Fasting hyperinsulinemia
Frequent (30-79%)HP:0008283
Generalised-onset seizure
Frequent (30-79%)HP:0002197
Generalized non-motor (absence) seizure
Frequent (30-79%)HP:0002121
Hyperinsulinemia hypoglycemia
Frequent (30-79%)HP:0000825
Increased urine alpha-ketoglutarate concentration
Frequent (30-79%)HP:0012402
Mental and motor retardation
Frequent (30-79%)HP:0001263
Moderate mental retardation
Frequent (30-79%)HP:0002342
Specific learning disability
Frequent (30-79%)HP:0001328
Abnormality of the pancreatic islet cells
Excluded (<1%)HP:0006476
Hypoglycemic coma
HP:0001325
Hypoglycemic seizures
HP:0002173
Low intelligence
HP:0001249
Related Conditions
Hyperammonemia(parent)
Autosomal dominant hereditary disorder(parent)
Hereditary disorder of endocrine system(parent)
Digestive system hereditary disorder(parent)
Inborn error of metabolism(parent)
Disorder of digestive system specific to fetus OR newborn(parent)
Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form(parent)
Quick Facts
- SNOMED CT
- 718106009
- UMLS CUI
- C1847555
- Fully Specified Name
- Hyperinsulinism and hyperammonemia syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 17
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.