Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Enlarged liver
Always present (100%)HP:0002240
Lacticacidosis
Always present (100%)HP:0003128
Low blood sugar when fasting
Always present (100%)HP:0003162
Central hypotonia
Very frequent (80-99%)HP:0001252
Cognitive deficits
Very frequent (80-99%)HP:0100543
Decreased body height
Very frequent (80-99%)HP:0004322
Epilepsy
Very frequent (80-99%)HP:0001250
Hyperlipidemia
Very frequent (80-99%)HP:0003077
Hyperplasia of cheeks
Very frequent (80-99%)HP:0000293
Hyperuricaemia
Very frequent (80-99%)HP:0002149
Low blood sugar
Very frequent (80-99%)HP:0001943
Predisposition to infections
Very frequent (80-99%)HP:0002719
respiratory infections, recurrent
Very frequent (80-99%)HP:0002205
Poor growth
Occasional (5-29%)HP:0001510
Xanthomatosis
Occasional (5-29%)HP:0000991
Abdominal protuberance
HP:0001538
Bleeding tendency
HP:0001892
Decreased glomerular filtration rate
HP:0012213
Decreased muscle mass
HP:0003199
Delayed puberty
HP:0000823
Doll-like facies
HP:0000295
Enlarged kidney
HP:0000105
Focal and segmental glomerulosclerosis
HP:0000097
Gout
HP:0001997
High blood pressure
HP:0000822
Increased hepatocellular carcinoma risk
HP:0001402
Intermittent diarrhea
HP:0002254
Kidney stones
HP:0000787
Lipemia retinalis
HP:0000660
Osteoporosis
HP:0000939
Quick Facts
- SNOMED CT
- 7265005
- UMLS CUI
- C0017920
- Fully Specified Name
- Glycogen storage disease, type I (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.