Fanconi renotubular syndrome 5
MONDO:0030056Mondo
Findings
No curated finding names Fanconi renotubular syndrome 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
14 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.
- Genu valgumHPOHP:0002857
- 12 of 12 reported patients
- Hypophosphatemic ricketsHPOHP:0004912
- 19 of 19 reported patients
- Tubulointerstitial fibrosisHPOHP:0005576
- 4 of 4 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 11 of 12 reported patients
- HypertensionHPOHP:0000822
- 7 of 19 reported patients · Juvenile onset
- EmphysemaHPOHP:0002097
- 3 of 12 reported patients
- Lung adenocarcinomaHPOHP:0030078
- 1 of 12 reported patients · Young adult onset
- AminoaciduriaHPOHP:0003355
- Decreased DLCOHPOHP:0045051
- GlycosuriaHPOHP:0003076
- Hyperchloremic metabolic acidosisHPOHP:0004918
- HypophosphatemiaHPOHP:0002148
Show the remaining 2
- ProteinuriaHPOHP:0000093
- Pulmonary fibrosisHPOHP:0002206
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.
- NDUFAF6HGNC:28625
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
2 names
Resolves to: Fanconi renotubular syndrome 5
- Also called
- Fanconi Renotubular Syndrome, Acadian VariantFRTS5