Glycogen storage disease type XI

disorder

SNOMED 1186809004CUI C5575057

Overview

Glycogen storage disease type XI 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.

Elevated circulating creatine phosphokinase

Very frequent (80-99%)HP:0003236

Increased blood lactate

Very frequent (80-99%)HP:0002151

Increased serum pyruvate

Very frequent (80-99%)HP:0003542

Exercise-induced muscle fatigue

Frequent (30-79%)HP:0009020

Muscle pain

Frequent (30-79%)HP:0003326

Muscle spasm

Frequent (30-79%)HP:0003394

Muscle stiffness

Frequent (30-79%)HP:0003552

Myoglobinuria

Frequent (30-79%)HP:0002913

Palmoplantar keratosis

Frequent (30-79%)HP:0000972

Breakdown of skeletal muscle

Occasional (5-29%)HP:0003201

Renal failure

Occasional (5-29%)HP:0000083

Related Conditions

Hereditary disorder of musculoskeletal system(parent)

Disease of skeletal muscle(parent)

Recessive hereditary disorder (autosomal)(parent)

Glycogen storage disease(parent)

Secondary myopathy(parent)

Quick Facts

SNOMED CT: 1186809004
UMLS CUI: C5575057
Fully Specified Name: Glycogen storage disease due to lactate dehydrogenase 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.