Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Nephrosis-deafness-urinary tract-digital malformations syndrome is characterized by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant.
Features include: Hearing loss (hearing impairment), Nephrotic syndrome, Short distal phalanx of the thumb, and Bifid uvula and 3 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Ears | 1 | Hearing loss (hearing impairment) |
Kidneys and urinary system |
Biomarker and diagnostic research for nephrosis-deafness-urinary tract-digital malformations syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for nephrosis-deafness-urinary tract-digital malformations syndrome.
121 publications have been identified in PubMed for nephrosis-deafness-urinary tract-digital malformations syndrome. Research spans Review / Meta-Analysis (71%), Basic Science / Preclinical (14%), and Epidemiology / Natural History (7%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 86 | 71% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:51 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
1 |
Nephrotic syndrome |
Laboratory research |
17 |
14% |
Disease patterns and progression | 8 | 7% |
Patient case studies | 5 | 4% |
Other research | 2 | 2% |
Testing and diagnosis research | 2 | 2% |
Clinical study results | 1 | 1% |
Papazachariou A (2026). [PMID: 41128447](https://pubmed.ncbi.nlm.nih.gov/41128447/). *Curr Opin Clin Nutr Metab Care*. [Review / Meta-Analysis]
Amado C (2026). [PMID: 40975490](https://pubmed.ncbi.nlm.nih.gov/40975490/). *Ann Allergy Asthma Immunol*. [Review / Meta-Analysis]
Lee S (2026). [PMID: 41206258](https://pubmed.ncbi.nlm.nih.gov/41206258/). *Am J Geriatr Psychiatry*. [Review / Meta-Analysis]
Anderson EN (2026). [PMID: 41468891](https://pubmed.ncbi.nlm.nih.gov/41468891/). *Am J Hum Genet*. [Basic Science / Preclinical]
Walther LE (2025). [PMID: 40192781](https://pubmed.ncbi.nlm.nih.gov/40192781/). *HNO*. [Review / Meta-Analysis]
Shabshin G (2025). [PMID: 40261331](https://pubmed.ncbi.nlm.nih.gov/40261331/). *Orthopadie (Heidelb)*. [Review / Meta-Analysis]
Gencer NS (2025). [PMID: 41291504](https://pubmed.ncbi.nlm.nih.gov/41291504/). *BMC Geriatr*. [Epidemiology / Natural History]
Zhang Y (2025). [PMID: 40079442](https://pubmed.ncbi.nlm.nih.gov/40079442/). *J Int Med Res*. [Review / Meta-Analysis]
Karuntu JS (2025). [PMID: 39733931](https://pubmed.ncbi.nlm.nih.gov/39733931/). *Prog Retin Eye Res*. [Review / Meta-Analysis]
Pena C (2025). [PMID: 40146047](https://pubmed.ncbi.nlm.nih.gov/40146047/). *Minerva Med*. [Review / Meta-Analysis]