Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
Findings
No curated finding names Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 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 HNF4A gene.
Definition from the Mondo Disease Ontology (MONDO:0014458), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
10 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 alkaline phosphatase concentrationHPOHP:0003155
- 1 of 1 reported patient
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 1 of 1 reported patient
- GlycosuriaHPOHP:0003076
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- HypoglycemiaHPOHP:0001943
- 1 of 1 reported patient · Neonatal onset
- HypophosphatemiaHPOHP:0002148
- 1 of 1 reported patient
- Large for gestational age
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.
- HNF4AHGNC:5024
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
- Also called
- fanconi renotubular syndrome 4, with maturity-onset diabetes of the youngFanconi syndrome caused by mutation in HNF4AHNF4A Fanconi syndrome