Overview
Hepatic glycogen synthase 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.
Glucose in urine
Frequent (30-79%)HP:0003076
Hyperketosis
Frequent (30-79%)HP:0001946
Irritability
Frequent (30-79%)HP:0000737
Ketonaciduria
Frequent (30-79%)HP:0002919
Ketotic hypoglycemia
Frequent (30-79%)HP:0012734
Postprandial hyperglycemia
Frequent (30-79%)HP:0011998
Cognitive delay
Occasional (5-29%)HP:0001263
Decreased body height
Occasional (5-29%)HP:0004322
Digestive system disease
Occasional (5-29%)HP:0011024
Elevated liver enzymes
Occasional (5-29%)HP:0002910
Hyperlipidemia
Occasional (5-29%)HP:0003077
Languor
Occasional (5-29%)HP:0001254
Poor weight gain
Occasional (5-29%)HP:0001508
Seizures
Occasional (5-29%)HP:0001250
Quick Facts
- SNOMED CT
- 725026008
- UMLS CUI
- C4510753
- Fully Specified Name
- Hepatic glycogen synthase deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 14
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.