Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Reduced circulating aldolase concentration
Very frequent (80-99%)HP:0012545
Upset stomach
Very frequent (80-99%)HP:0002027
Diarrhea
Frequent (30-79%)HP:0002014
Nausea
Frequent (30-79%)HP:0002018
Very poor growth
Frequent (30-79%)HP:0001510
Abdominal swelling
Occasional (5-29%)HP:0003270
Abnormality of the coagulation cascade
Occasional (5-29%)HP:0003256
Chronic hepatic failure
Occasional (5-29%)HP:0100626
CKD
Occasional (5-29%)HP:0012622
Dyschezia
Occasional (5-29%)HP:0002019
Enlarged liver
Occasional (5-29%)HP:0002240
Episodic hyperhidrosis
Occasional (5-29%)HP:0001069
High blood Mg levels
Occasional (5-29%)HP:0002918
Hyperuricaemia
Occasional (5-29%)HP:0002149
Hypophosphataemia
Occasional (5-29%)HP:0002148
Low blood sugar after a meal
Occasional (5-29%)HP:0012051
Metabolic acidosis
Occasional (5-29%)HP:0001942
Renal failure in adulthood
Occasional (5-29%)HP:0000083
Vomiting
Occasional (5-29%)HP:0002013
Yellowing of the skin
Occasional (5-29%)HP:0000952
Cataract
Very rare (1-4%)HP:0000518
Dullness
Very rare (1-4%)HP:0001254
Epilepsy
Very rare (1-4%)HP:0001250
Trance
Very rare (1-4%)HP:0001259
Cirrhosis
HP:0001394
Fatty liver
HP:0001397
Fructose malabsorption
HP:0005973
Gastrointestinal haemorrhage
HP:0002239
Glucose in urine
HP:0003076
High blood bilirubin levels
HP:0002904
Quick Facts
- SNOMED CT
- 20052008
- UMLS CUI
- C0016751
- Fully Specified Name
- Fructose-1,6-bisphosphate aldolase B deficiency (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.