nephrogenic diabetes insipidus
Findings
No curated finding names nephrogenic diabetes insipidus yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 liters in children.
Definition from the Mondo Disease Ontology (MONDO:0016383), read 2026-09-29. CC BY 4.0.
Features
21 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.
- Nephrogenic diabetes insipidusHPOHP:0009806
- Obligate (100% of cases)
- HypernatremiaHPOHP:0003228
- Very frequent (80% to 99% of cases)
- Hypernatremic dehydrationHPOHP:0004906
- Very frequent (80% to 99% of cases)
- HyposthenuriaHPOHP:0003158
- Very frequent (80% to 99% of cases)
- AnorexiaHPOHP:0002039
- Frequent (30% to 79% of cases)
- ConstipationHPOHP:0002019
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- FeverHPOHP:0001945
- Frequent (30% to 79% of cases)
- Nausea and vomitingHPOHP:0002017
- Frequent (30% to 79% of cases)
- PolydipsiaHPOHP:0001959
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- Occasional (5% to 29% of cases)
- Functional abnormality of the bladderHPOHP:0000009
- Occasional (5% to 29% of cases)
Show the remaining 9
- Growth delayHPOHP:0001510
- Occasional (5% to 29% of cases)
- HydroureterHPOHP:0000072
- Occasional (5% to 29% of cases)
- HypovolemiaHPOHP:0011106
- Occasional (5% to 29% of cases)
- Renal insufficiencyHPOHP:0000083
- Occasional (5% to 29% of cases)
- SeizureHPOHP:0001250
- Occasional (5% to 29% of cases)
- Short statureHPOHP:0004322
- Occasional (5% to 29% of cases)
Genes
3 genes
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
- Definitive · Natera · Autosomal recessive · 2023
- Definitive · Natera · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
- AVPR2HGNC:897
- Definitive · Natera · X-linked recessive · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
- SLC14A1HGNC:10918
- No Known Disease Relationship · ClinGen · Autosomal recessive · 2025