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Features include common findings: Vesicoureteral reflux; and sometimes findings: Renal hypoplasia, Ectopic kidney, Multicystic kidney dysplasia, and Hydronephrosis.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Kidneys and urinary system | 3 | Renal hypoplasia, Ectopic kidney, Multicystic kidney dysplasia |
NRIP1 encodes nuclear receptor interacting protein 1 (1,158 aa). Modulates transcriptional activation by steroid receptors such as NR3C1, NR3C2 and ESR1. Also modulates transcriptional repression by nuclear hormone receptors. Highest expression in Cervix Endocervix (21.0 TPM) and Adipose Subcutaneous (19.7 TPM).
Congenital anomalies of kidney and urinary tract 3 is associated with mutations in the NRIP1 gene on chromosome 21.
The NRIP1 protein participates in PIAS1,3 SUMOylate NRIP1 with SUMO1, NR1H2,3, NRIP1 bind the FASN gene, and NR1H3, NRIP1 bind the PCK1 gene pathways.
NRIP1 is classified as a druggable target (Nuclear Hormone Receptor category) with score 1.7.
Genetic testing for NRIP1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for congenital anomalies of kidney and urinary tract 3 has been reported in the published literature.
Phenotype severity distribution: 1 common feature.
No clinical trials have been registered for congenital anomalies of kidney and urinary tract 3.
114 publications have been identified in PubMed for congenital anomalies of kidney and urinary tract 3. Research spans Epidemiology / Natural History (46%), Basic Science / Preclinical (22%), and Review / Meta-Analysis (9%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 53 | 46% |
Data assembled from 5 of 12 sources · Last updated Sep 21, 2026, 6:35 AM UTC
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Online Mendelian Inheritance in Man
Common questions about congenital anomalies of kidney and urinary tract 3
Laboratory research |
25 |
22% |
Research summaries | 10 | 9% |
Clinical study results | 10 | 9% |
Testing and diagnosis research | 7 | 6% |
Patient case studies | 7 | 6% |
New treatment approaches | 2 | 2% |
Liang Y (2026). [PMID: 41971728](https://pubmed.ncbi.nlm.nih.gov/41971728/). *Front Pediatr*. [Epidemiology / Natural History]
Ngubane-Mwandla N (2026). [PMID: 41507861](https://pubmed.ncbi.nlm.nih.gov/41507861/). *BMC nephrology*. [Clinical Trial Publication]
Hennaut E (2026). [PMID: 42201565](https://pubmed.ncbi.nlm.nih.gov/42201565/). *Eur J Pediatr*. [Epidemiology / Natural History]
Ammar THA (2026). [PMID: 42132966](https://pubmed.ncbi.nlm.nih.gov/42132966/). *Mol Biol Rep*. [Basic Science / Preclinical]
Yosypiv IV (2026). [PMID: 41543353](https://pubmed.ncbi.nlm.nih.gov/41543353/). *American journal of physiology. Regulatory, integrative and comparative physiology*. [Case Report / Case Series]
Suresh G (2026). [PMID: 41924665](https://pubmed.ncbi.nlm.nih.gov/41924665/). *Cureus*. [Case Report / Case Series]
Letica I (2026). [PMID: 41901631](https://pubmed.ncbi.nlm.nih.gov/41901631/). *Medicina (Kaunas)*. [Basic Science / Preclinical]
Chen L (2026). [PMID: 42050002](https://pubmed.ncbi.nlm.nih.gov/42050002/). *Arch Gynecol Obstet*. [Review / Meta-Analysis]
Hammett C (2026). [PMID: 40862680](https://pubmed.ncbi.nlm.nih.gov/40862680/). *Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association*. [Clinical Trial Publication]
Kelam N (2026). [PMID: 41897393](https://pubmed.ncbi.nlm.nih.gov/41897393/). *Biomolecules*. [Review / Meta-Analysis]