Fanconi renotubular syndrome 1
MONDO:0024525Mondo
Findings
No curated finding names Fanconi renotubular syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
12 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.
- AminoaciduriaHPOHP:0003355
- 28 of 28 reported patients
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- 1 of 1 reported patient
- GlycosuriaHPOHP:0003076
- 28 of 28 reported patients
- HyperphosphaturiaHPOHP:0003109
- 28 of 28 reported patients
- Impaired renal tubular reabsorption of phosphateHPOHP:0034359
- 1 of 1 reported patient
- Low-molecular-weight proteinuriaHPOHP:0003126
- 28 of 28 reported patients
- Metabolic acidosisHPOHP:0001942
- 28 of 28 reported patients
- HypophosphatemiaHPOHP:0002148
- 1 of 2 reported patients
- HypokalemiaHPOHP:0002900
- 0 of 1 reported patient
- RicketsHPOHP:0002748
- 0 of 28 reported patients
- Renal insufficiencyHPOHP:0000083
- Young adult onset
- Renal tubular dysfunctionHPOHP:0000124
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.
- GATMHGNC:4175
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Moderate · ClinGen · Autosomal dominant · 2026
- Moderate · Natera · Autosomal dominant · 2026
Where it sits
- A kind of
Other names
4 names
Resolves to: Fanconi renotubular syndrome 1
- Also called
- DeToni-Debré-Fanconi syndromeFRTS1primary Fanconi renal syndromeprimary Fanconi renotubular syndrome