Fanconi renotubular syndrome 3
Findings
No curated finding names Fanconi renotubular syndrome 3 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 EHHADH gene.
Definition from the Mondo Disease Ontology (MONDO:0014275), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
11 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.
- Elevated circulating creatinine concentrationHPOHP:0003259
- 0 of 11 reported patients
- Renal insufficiencyHPOHP:0000083
- 0 of 11 reported patients
- AminoaciduriaHPOHP:0003355
- Bowing of the legsHPOHP:0002979
- GlycosuriaHPOHP:0003076
- Growth delayHPOHP:0001510
- HyperphosphaturiaHPOHP:0003109
- Low-molecular-weight proteinuriaHPOHP:0003126
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.
- EHHADHHGNC:3247
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2025
- Limited · ClinGen · Autosomal dominant · 2026
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
Where it sits
- A kind of
Other names
3 names
Resolves to: Fanconi renotubular syndrome 3
- Also called
- EHHADH Fanconi syndromeFanconi renotubular syndrome type 3Fanconi syndrome caused by mutation in EHHADH