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Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
disorderSNOMED 1187462006CUI C5568976
Overview
Glycogen storage disease due to phosphoglycerate kinase 1 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 nervous system physiology
Frequent (30-79%)HP:0012638
Ataxia
Frequent (30-79%)HP:0001251
Breakdown of skeletal muscle
Frequent (30-79%)HP:0003201
Decreased haemoglobin concentration
Frequent (30-79%)HP:0020062
Exercise-induced muscle fatigue
Frequent (30-79%)HP:0009020
Hemolytic anaemia
Frequent (30-79%)HP:0001878
High blood bilirubin levels
Frequent (30-79%)HP:0002904
Mental and motor retardation
Frequent (30-79%)HP:0001263
Mental deficiency
Frequent (30-79%)HP:0001249
Migraine headache
Frequent (30-79%)HP:0002076
Muscle pain with exercise
Frequent (30-79%)HP:0003738
Muscle spasm
Frequent (30-79%)HP:0003394
Muscle weakness
Frequent (30-79%)HP:0001324
Myoglobinuria
Frequent (30-79%)HP:0002913
Myopathy
Frequent (30-79%)HP:0003198
Reticulocytosis
Frequent (30-79%)HP:0001923
Speech and language difficulties
Frequent (30-79%)HP:0000750
Tremor
Frequent (30-79%)HP:0001337
Renal failure in adulthood
Occasional (5-29%)HP:0000083
Breakdown of light-sensitive cells in back of eye
Very rare (1-4%)HP:0000556
Legal blindness
Very rare (1-4%)HP:0000618
Quick Facts
- SNOMED CT
- 1187462006
- UMLS CUI
- C5568976
- Fully Specified Name
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 21
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.