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renal-hepatic-pancreatic dysplasia 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

renal-hepatic-pancreatic dysplasia 1

MONDO:0008833

Also known as:NPHP3 renal-hepatic-pancreatic dysplasiarenal-hepatic-pancreatic dysplasia caused by mutation in NPHP3renal-hepatic-pancreatic dysplasia type 1

Overview

Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene.

GeneticsAutosomal recessive · NPHP3 (chr 3)

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Stage 5 chronic kidney disease, Reduced kidney function (renal insufficiency), Liver scarring (cirrhosis) (cirrhosis), and Hyperechogenic pancreas; and common findings: Preauricular pit, Situs inversus totalis, Enlarged liver (hepatomegaly), and Portal hypertension and others. 31 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	11

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

NPHP3 encodes nephrocystin 3 (1,330 aa). Required for normal ciliary development and function. Highest expression in Ovary (63.6 TPM) and Fallopian Tube (51.7 TPM).

Renal-hepatic-pancreatic dysplasia 1 is associated with mutations in the NPHP3 gene on chromosome 3.

The NPHP3 protein participates in Myristoylated NPHP3 translocates into the ciliary membrane, UNC119B stimulates translocation of myristoylated ciliary cargo to the primary cilium, and RP2:ARL3:GDP:UNC119B dissociates pathways.

NPHP3 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for NPHP3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 9 common features.

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 renal-hepatic-pancreatic dysplasia 1.

3 publications have been identified in PubMed for renal-hepatic-pancreatic dysplasia 1. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

Roig J (2025). [PMID: 40189576](https://pubmed.ncbi.nlm.nih.gov/40189576/). *Cell Commun Signal*. [Review / Meta-Analysis]
Teng CT (2025). [PMID: 41149691](https://pubmed.ncbi.nlm.nih.gov/41149691/). *Pediatr Rep*. [Case Report / Case Series]
Thuy PX (2024). [PMID: 39408701](https://pubmed.ncbi.nlm.nih.gov/39408701/). *Int J Mol Sci*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:15 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:208540

GARD

Genetic and Rare Diseases Info Center

GARD:18431

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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renal-hepatic-pancreatic dysplasia 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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