Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency

disorder

SNOMED 717821004CUI C4303568

Overview

Glycogen storage disease with severe cardiomyopathy due to glycogenin 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.

Abnormal heart rate

Frequent (30-79%)HP:0011675

Cardiomyocyte hypertrophy

Frequent (30-79%)HP:0031319

Decreased muscle glycogen content

Frequent (30-79%)HP:0012270

Decreased muscle mass

Frequent (30-79%)HP:0003199

Disease of the heart muscle

Frequent (30-79%)HP:0001638

EKG: T-wave inversion

Frequent (30-79%)HP:0010872

EMG: myopathic changes

Frequent (30-79%)HP:0003458

Exertional dyspnea

Frequent (30-79%)HP:0002875

Inability to heel walk

Frequent (30-79%)HP:0009027

Increased mitochondrial number

Frequent (30-79%)HP:0040014

Lax abdominal musculature

Frequent (30-79%)HP:0009023

Neck flexion weakness

Frequent (30-79%)HP:0003722

Right bundle-branch block

Frequent (30-79%)HP:0011712

Shoulder weakness

Frequent (30-79%)HP:0003547

Skipped heart beat

Frequent (30-79%)HP:0001962

ST segment elevation

Frequent (30-79%)HP:0012251

Thickened interventricular septum

Frequent (30-79%)HP:0005144

Upper limb muscle weakness

Frequent (30-79%)HP:0003484

Ventricular fibrillation

Frequent (30-79%)HP:0001663

Ventricular hypertrophy

Frequent (30-79%)HP:0001714

Ventricular tachycardia

Frequent (30-79%)HP:0004756

Vertigo

Frequent (30-79%)HP:0002321

Related Conditions

Glycogen storage disease(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 717821004
UMLS CUI: C4303568
Fully Specified Name: Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 22

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.