Muscle and heart glycogen synthase deficiency

disorder

SNOMED 725027004CUI C4510752

Overview

Muscle and heart 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.

Exertional dyspnea

Very frequent (80-99%)HP:0002875

Muscle pain

Very frequent (80-99%)HP:0003326

Decreased muscle glycogen content

Frequent (30-79%)HP:0012270

Poor exercise tolerance

Frequent (30-79%)HP:0003546

Ragged-red muscle fibers

Frequent (30-79%)HP:0003200

Skeletal myopathy

Frequent (30-79%)HP:0003756

Syncope

Frequent (30-79%)HP:0001279

Difficulty walking up stairs

Occasional (5-29%)HP:0003551

Epilepsy

Occasional (5-29%)HP:0001250

Left ventricular wall hypertrophy

Occasional (5-29%)HP:0001712

Sudden cardiac death

Occasional (5-29%)HP:0001645

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Cardiovascular system hereditary disorder(parent)

Hypertrophic cardiomyopathy due to glycogen storage disease(parent)

Glycogen storage disease(parent)

Hereditary disorder of musculoskeletal system(parent)

Metabolic myopathy(parent)

Secondary myopathy(parent)

Quick Facts

SNOMED CT: 725027004
UMLS CUI: C4510752
Fully Specified Name: Muscle and heart glycogen synthase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 11

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.