Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal circulating enzyme concentration or activity
Very frequent (80-99%)HP:0012379
Abnormal erythrocyte enzyme concentration or activity
Very frequent (80-99%)HP:0030272
Elevated liver enzymes
Very frequent (80-99%)HP:0002910
Enlarged liver
Very frequent (80-99%)HP:0002240
Elevated circulating ketone body concentration
Frequent (30-79%)HP:0410175
Elevated serum cholesterol
Frequent (30-79%)HP:0003124
Hyperketosis
Frequent (30-79%)HP:0001946
Increased triglycerides
Frequent (30-79%)HP:0002155
Liver fibrosis
Frequent (30-79%)HP:0001395
Low blood sugar
Frequent (30-79%)HP:0001943
Low blood sugar when fasting
Frequent (30-79%)HP:0003162
Poor growth
Frequent (30-79%)HP:0001510
Cognitive delay
Occasional (5-29%)HP:0001263
Decreased body height
Occasional (5-29%)HP:0004322
Delayed gross motor development
Occasional (5-29%)HP:0002194
Delayed puberty
Occasional (5-29%)HP:0000823
Elevated circulating creatine phosphokinase
Occasional (5-29%)HP:0003236
Fatty liver
Occasional (5-29%)HP:0001397
Increased sarcoplasmic glycogen
Occasional (5-29%)HP:0030232
Light or infrequent menstrual periods
Occasional (5-29%)HP:0000876
Menstrual irregularity
Occasional (5-29%)HP:0000858
Mental-retardation
Occasional (5-29%)HP:0001249
Muscle pain
Occasional (5-29%)HP:0003326
Muscle spasm
Occasional (5-29%)HP:0003394
Myoglobinuria
Occasional (5-29%)HP:0002913
Neurogenic muscle atrophy, especially in the lower limbs
Occasional (5-29%)HP:0003202
Painful menstruation
Occasional (5-29%)HP:0100607
Polycystic ovary disease
Occasional (5-29%)HP:0000147
Poor exercise tolerance
Occasional (5-29%)HP:0003546
Progressive muscle weakness
Occasional (5-29%)HP:0003323
Related Conditions
Glycogen phosphorylase kinase deficiency, autosomal recessive(child)
Glycogen storage disease due to muscle phosphorylase kinase deficiency(child)
Glycogen storage disease due to liver and muscle glycogen phosphorylase kinase deficiency(child)
Glycogen storage disease(parent)
Hepatopathy(parent)
Digestive system hereditary disorder(parent)
Disorder of digestive system specific to fetus OR newborn(parent)
Quick Facts
- SNOMED CT
- 235908005
- UMLS CUI
- C0268147
- Fully Specified Name
- Glycogen storage disease type IX (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.