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nephropathy - deafness - hyperparathyroidism syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephropathy - deafness - hyperparathyroidism syndrome

MONDO:0009729

Also known as:Edwards-Patton-Dilly syndromenephropathy - deafness - hyperparathyroidismnephropathy, deafness, and hyperparathyroidism

Overview

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.

Diagnosis

Biomarker and diagnostic research for nephropathy - deafness - hyperparathyroidism syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for nephropathy - deafness - hyperparathyroidism syndrome.

101 publications have been identified in PubMed for nephropathy - deafness - hyperparathyroidism syndrome. Kisho has analyzed 58 by research type. Research spans Review / Meta-Analysis (74%), Basic Science / Preclinical (17%), and Case Report / Case Series (3%).

Research Type	Count	% of Total
Research summaries	43	74%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:46 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:256120

Orphanet

European rare disease database

Orphanet:2668

GARD

Genetic and Rare Diseases Info Center

GARD:3940

Questions for Your Care Team

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nephropathy - deafness - hyperparathyroidism syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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