Muscle phosphoglycerate mutase deficiency

disorder

SNOMED 61772003CUI C0268149

Overview

Muscle phosphoglycerate mutase 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.

Breakdown of skeletal muscle

HP:0003201

Elevated circulating creatine phosphokinase

HP:0003236

Muscle cramps with exertion

HP:0003710

Muscle pain with exercise

HP:0003738

Myoglobinuria

HP:0002913

Myopathy

HP:0003198

Poor exercise tolerance

HP:0003546

Renal insufficiency

HP:0000083

Related Conditions

Hereditary disorder of musculoskeletal system(parent)

Recessive hereditary disorder (autosomal)(parent)

Enzymopathy(parent)

Glycogen storage disease(parent)

Quick Facts

SNOMED CT: 61772003
UMLS CUI: C0268149
Fully Specified Name: Muscle phosphoglycerate mutase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 8

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.