primary Fanconi syndrome
Findings
No curated finding names primary Fanconi syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.
Definition from the Mondo Disease Ontology (MONDO:0007600), read 2026-09-29. CC BY 4.0.
Features
29 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal urine pHHPOHP:0032943
- Very frequent (80% to 99% of cases)
- Bicarbonate-wasting renal tubular acidosisHPOHP:0004910
- Very frequent (80% to 99% of cases)
- BicarbonaturiaHPOHP:0003646
- Very frequent (80% to 99% of cases)
- Generalized aminoaciduriaHPOHP:0002909
- Very frequent (80% to 99% of cases)
- GlycosuriaHPOHP:0003076
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
Show the remaining 17
- Chronic kidney diseaseHPOHP:0012622
- Frequent (30% to 79% of cases)
- Decreased circulating carnitine concentrationHPOHP:0003234
- Frequent (30% to 79% of cases)
- HypokalemiaHPOHP:0002900
- Frequent (30% to 79% of cases)
- HypophosphatemiaHPOHP:0002148
- Frequent (30% to 79% of cases)
- Hypophosphatemic ricketsHPOHP:0004912
- Frequent (30% to 79% of cases)
- HypouricemiaHPOHP:0003537
- Frequent (30% to 79% of cases)
Genes
4 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.