diabetes insipidus, nephrogenic, autosomal
MONDO:0007451Mondo
Findings
No curated finding names diabetes insipidus, nephrogenic, autosomal yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
7 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.
- HypernatremiaHPOHP:0003228
- 3 of 3 reported patients
- PolydipsiaHPOHP:0001959
- 3 of 3 reported patients
- PolyuriaHPOHP:0000103
- 3 of 3 reported patients
- Failure to thriveHPOHP:0001508
- Feeding difficulties in infancyHPOHP:0008872
- Hypertonic dehydrationHPOHP:0001986
- Nephrogenic diabetes insipidusHPOHP:0009806
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.
- AQP2HGNC:634
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Semidominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: diabetes insipidus, nephrogenic, autosomal
- Also called
- diabetes insipidus, nephrogenic, 2