nephropathy - deafness - hyperparathyroidism syndrome
Findings
No curated finding names nephropathy - deafness - hyperparathyroidism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Nephropathy-deafness-hyperparathyroidism syndrome is characterized by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive.
Definition from the Mondo Disease Ontology (MONDO:0009729), read 2026-09-29. CC BY 4.0.
Features
8 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.
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
- Bone cystHPOHP:0012062
- Frequent (30% to 79% of cases)
- GlomerulopathyHPOHP:0100820
- Frequent (30% to 79% of cases)
- HypercalcemiaHPOHP:0003072
- Frequent (30% to 79% of cases)
- HyperparathyroidismHPOHP:0000843
- Frequent (30% to 79% of cases)
- ProteinuriaHPOHP:0000093
- Frequent (30% to 79% of cases)
- Renal insufficiencyHPO
Where it sits
- A kind of
Other names
1 name
Resolves to: nephropathy - deafness - hyperparathyroidism syndrome
- Also called
- Edwards-Patton-Dilly syndrome