Fanconi renotubular syndrome 2
Findings
No curated finding names Fanconi renotubular syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013247), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
17 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.
- Bone painHPOHP:0002653
- 2 of 2 reported patients
- Decreased glomerular filtration rateHPOHP:0012213
- 2 of 2 reported patients · Adult onset
- Elevated circulating calcitriol concentrationHPOHP:0031415
- 2 of 2 reported patients
- Generalized aminoaciduriaHPOHP:0002909
- 2 of 2 reported patients
- GlycosuriaHPOHP:0003076
- 2 of 2 reported patients
- HypercalciuriaHPOHP:0002150
- 2 of 2 reported patients · Childhood onset
- Hypophosphatemia
Show the remaining 5
- Renal insufficiencyHPOHP:0000083
- 2 of 2 reported patients · Adult onset
- Renal phosphate wastingHPOHP:0000117
- 2 of 2 reported patients
- RicketsHPOHP:0002748
- 2 of 2 reported patients
- Short statureHPOHP:0004322
- 2 of 2 reported patients
- Elevated circulating parathyroid hormone levelHPOHP:0003165
- 0 of 2 reported patients
Genes
1 gene
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.
- SLC34A1HGNC:11019
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Disputed Evidence · ClinGen · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: Fanconi renotubular syndrome 2
- Also called
- Fanconi renotubular syndrome type 2Fanconi syndrome caused by mutation in SLC34A1SLC34A1 Fanconi syndrome