Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Enlarged liver
Very frequent (80-99%)HP:0002240
Increased hepatic glycogen content
Very frequent (80-99%)HP:0006568
Abnormal liver enzymes
Frequent (30-79%)HP:0002910
Delayed puberty
Frequent (30-79%)HP:0000823
Growth failure
Frequent (30-79%)HP:0001510
Hyperketosis
Frequent (30-79%)HP:0001946
Low blood sugar
Frequent (30-79%)HP:0001943
Osteopenia
Frequent (30-79%)HP:0000938
Osteoporosis
Frequent (30-79%)HP:0000939
Undergrowth
Frequent (30-79%)HP:0001508
Belly bloating
Occasional (5-29%)HP:0003270
Decreased body height
Occasional (5-29%)HP:0004322
Delayed motor milestones
Occasional (5-29%)HP:0001270
Intermittent lactic acidemia
Occasional (5-29%)HP:0004913
Irritable mood
Occasional (5-29%)HP:0000737
Liver fibrosis
Occasional (5-29%)HP:0001395
Muscle cramps with exertion
Occasional (5-29%)HP:0003710
Muscular hypotonia
Occasional (5-29%)HP:0001252
Portal fibrosis shown on biopsy
Occasional (5-29%)HP:0006580
Postexertional malaise
Occasional (5-29%)HP:0030973
Trouble sleeping
Occasional (5-29%)HP:0002360
Cardiomyopathy, hypertrophic
Very rare (1-4%)HP:0001639
Cirrhosis
Very rare (1-4%)HP:0001394
Hepatocellular carcinoma
Very rare (1-4%)HP:0001402
Postprandial hyperlactemia
Very rare (1-4%)HP:0011997
Proteinuria
Very rare (1-4%)HP:0000093
Renal anomalies
Very rare (1-4%)HP:0000077
Elevated serum cholesterol
HP:0003124
Failure to thrive in first year of life
HP:0001531
Growth delay as children
HP:0008897
Quick Facts
- SNOMED CT
- 29291001
- UMLS CUI
- C0017925
- Fully Specified Name
- Glycogen storage disease, type VI (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.