Overview
Glycogen storage disease type Ic is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cyclic neutropenia
Always present (100%)HP:0040289
Enlarged liver
Always present (100%)HP:0002240
Inflammation of the large intestine
Always present (100%)HP:0002037
Inflammation of the mouth
Always present (100%)HP:0010280
Lacticacidosis
Always present (100%)HP:0003128
Low blood sugar
Always present (100%)HP:0001943
Recurrent URI
Always present (100%)HP:0002788
Absence of bactericidal oxidative respiratory burst in phagocytes
Excluded (<1%)HP:0002723
Blood in urine
HP:0000790
Chronic pancreas inflammation
HP:0006280
Decreased glomerular filtration rate
HP:0012213
Delayed puberty
HP:0000823
Elevated circulating ketone body concentration
HP:0410175
Focal and segmental glomerulosclerosis
HP:0000097
Gouty arthritis
HP:0001997
Hepatoblastoma
HP:0002884
Hepatocellular carcinoma
HP:0001402
High blood pressure
HP:0000822
Hyperketosis
HP:0001946
Hyperlipidemia
HP:0003077
Hyperuricaemia
HP:0002149
Metabolic acidosis
HP:0001942
Proteinuria
HP:0000093
Pulmonary artery hypertension
HP:0002092
Renal failure
HP:0000083
Spider hemangioma
HP:0012522
Xanthoma
HP:0001114
Xanthomatosis
HP:0000991
Related Conditions
Quick Facts
- SNOMED CT
- 237965005
- UMLS CUI
- C0342749
- Fully Specified Name
- Phosphate transport defect (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.