Overview
By MedlinePlus, National Library of Medicine
Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Enlarged liver
Always present (100%)HP:0002240
Hyperlipidemia
Always present (100%)HP:0003077
Lacticacidemia
Always present (100%)HP:0003128
Low blood sugar when fasting
Always present (100%)HP:0003162
Hyperuricaemia
Occasional (5-29%)HP:0002149
Poor growth
Occasional (5-29%)HP:0001510
Abdominal protuberance
HP:0001538
Bleeding tendency
HP:0001892
Decreased body height
HP:0004322
Decreased glomerular filtration rate
HP:0012213
Decreased muscle mass
HP:0003199
Delayed puberty
HP:0000823
Doll-like facies
HP:0000295
Elevated serum transaminases
HP:0002910
Enlarged kidney
HP:0000105
Fatty deposits in skin around the eyes
HP:0001114
Focal and segmental glomerulosclerosis
HP:0000097
Gout
HP:0001997
High blood pressure
HP:0000822
Increased incidence of hepatocellular carcinoma
HP:0001402
Intermittent diarrhea
HP:0002254
Kidney stones
HP:0000787
Lipemia retinalis
HP:0000660
Low blood sugar
HP:0001943
Osteoporosis
HP:0000939
Pancreatitis
HP:0001733
Proteinuria
HP:0000093
Xanthomatosis
HP:0000991
Related Conditions
Quick Facts
- SNOMED CT
- 444707001
- UMLS CUI
- C2919796
- Fully Specified Name
- Glycogen storage disease type Ia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 28
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.