Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Large spleen
Always present (100%)HP:0001744
Neutropoenia
Always present (100%)HP:0001875
Pancreatic fibrosis
Always present (100%)HP:0100732
Reduced hepatic glucose-6-phosphate translocase activity
Always present (100%)HP:6000201
Abdominal protuberance
Very frequent (80-99%)HP:0001538
Abnormal circulating enzyme concentration or activity
Very frequent (80-99%)HP:0012379
Decreased body height
Very frequent (80-99%)HP:0004322
Elevated serum cholesterol
Very frequent (80-99%)HP:0003124
Enlarged liver
Very frequent (80-99%)HP:0002240
Hyperlipidemia
Very frequent (80-99%)HP:0003077
Hyperuricaemia
Very frequent (80-99%)HP:0002149
Increased hepatic glycogen content
Very frequent (80-99%)HP:0006568
Increased triglycerides
Very frequent (80-99%)HP:0002155
Lacticacidemia
Very frequent (80-99%)HP:0003128
Low blood sugar
Very frequent (80-99%)HP:0001943
Very poor growth
Very frequent (80-99%)HP:0001510
Abnormality of myeloid leukocytes
Frequent (30-79%)HP:0010974
Chronic neutropenia
Frequent (30-79%)HP:0410252
Chubby cheeks
Frequent (30-79%)HP:0000293
Deficient in vitamin D
Frequent (30-79%)HP:0100512
Delayed motor milestones
Frequent (30-79%)HP:0001270
Enlarged kidney
Frequent (30-79%)HP:0000105
Fatty liver
Frequent (30-79%)HP:0001397
Menstrual irregularity
Frequent (30-79%)HP:0000858
Osteoporosis
Frequent (30-79%)HP:0000939
Pancreatitis
Frequent (30-79%)HP:0001733
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Round facies
Frequent (30-79%)HP:0000311
Sclerocystic ovaries
Frequent (30-79%)HP:0000147
Susceptibility to pyogenic infection
Frequent (30-79%)HP:0002718
Related Conditions
Quick Facts
- SNOMED CT
- 30102006
- UMLS CUI
- C0268146
- Fully Specified Name
- Glucose-6-phosphate transport defect (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.