Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal urine pH
Very frequent (80-99%)HP:0032943
Generalised nonspecific aminoaciduria
Very frequent (80-99%)HP:0002909
Glucose in urine
Very frequent (80-99%)HP:0003076
High urine uric acid level
Very frequent (80-99%)HP:0003149
Hyperchloremic metabolic acidosis
Very frequent (80-99%)HP:0004918
Increased urine bicarbonate concentration
Very frequent (80-99%)HP:0003646
Low-molecular-weight proteinuria
Very frequent (80-99%)HP:0003126
Proximal tubular acidosis
Very frequent (80-99%)HP:0002049
Renal bicarbonate wasting
Very frequent (80-99%)HP:0004910
Retarded growth
Very frequent (80-99%)HP:0001510
Tubular phosphate reabsorption low
Very frequent (80-99%)HP:0000117
Bone pain
Frequent (30-79%)HP:0002653
CKD
Frequent (30-79%)HP:0012622
Decreased plasma carnitine
Frequent (30-79%)HP:0003234
Hypophosphataemia
Frequent (30-79%)HP:0002148
Hypophosphatemic rickets
Frequent (30-79%)HP:0004912
Increased susceptibility to fractures
Frequent (30-79%)HP:0002659
Increased urinary potassium
Frequent (30-79%)HP:0003081
Low blood potassium levels
Frequent (30-79%)HP:0002900
Low blood uric acid levels
Frequent (30-79%)HP:0003537
Muscle weakness
Frequent (30-79%)HP:0001324
Osteomalacia
Frequent (30-79%)HP:0002749
Renal Na wasting
Frequent (30-79%)HP:0012606
Weight loss
Frequent (30-79%)HP:0001824
Dehydration
Occasional (5-29%)HP:0001944
End-stage renal disease
Occasional (5-29%)HP:0003774
Hypercalciuria
Occasional (5-29%)HP:0002150
Low blood sugar
Very rare (1-4%)HP:0001943
Pulmonary fibrosis
Very rare (1-4%)HP:0002206
Quick Facts
- SNOMED CT
- 236466005
- UMLS CUI
- C1857395
- Fully Specified Name
- Congenital Fanconi syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 29
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.