Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Elevated serum creatine phosphokinase
Always present (100%)HP:0003236
Exercise-induced muscle fatigue
Always present (100%)HP:0009020
Exercise-induced myoglobinuria
Always present (100%)HP:0008305
Increased total bilirubin
Always present (100%)HP:0003573
Muscle stiffness with exercise
Always present (100%)HP:0008967
Reduced muscle 6-phosphofructokinase activity
Always present (100%)HP:6000359
Tired easily
Always present (100%)HP:0003388
Decreased haemoglobin
Very frequent (80-99%)HP:0001903
Delayed relaxation of muscle fibres after contraction
Very frequent (80-99%)HP:0002486
Increased muscle glycogen content
Very frequent (80-99%)HP:0009051
Blood in urine
Frequent (30-79%)HP:0000790
Elevated circulating aldolase concentration
Frequent (30-79%)HP:0012544
Increased lactate dehydrogenase level
Frequent (30-79%)HP:0025435
Increased variation in muscle fibre size
Frequent (30-79%)HP:0003557
Muscle cramps with exertion
Frequent (30-79%)HP:0003710
Muscle pain
Frequent (30-79%)HP:0003326
Muscle pain with exercise
Frequent (30-79%)HP:0003738
Neurogenic muscle atrophy, especially in the lower limbs
Frequent (30-79%)HP:0003202
Poor exercise tolerance
Frequent (30-79%)HP:0003546
Reticulocytosis
Frequent (30-79%)HP:0001923
Yellowing of the skin
Frequent (30-79%)HP:0000952
Gallstones
HP:0001081
Gout
HP:0001997
Hemolytic anaemia
HP:0001878
Hyperuricaemia
HP:0002149
Muscle weakness
HP:0001324
Reduced erythrocyte 2,3-diphosphoglycerate concentration
HP:0030271
Related Conditions
Quick Facts
- SNOMED CT
- 89597008
- UMLS CUI
- C0017926
- Fully Specified Name
- Glycogen storage disease, type VII (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 27
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.