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renal-hepatic-pancreatic dysplasia 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

renal-hepatic-pancreatic dysplasia 2

MONDO:0014174

Also known as:NEK8 renal-hepatic-pancreatic dysplasiarenal-hepatic-pancreatic dysplasia caused by mutation in NEK8renal-hepatic-pancreatic dysplasia type 2

Overview

Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene.

GeneticsAutosomal recessive · NEK8 (chr 17)

ResearchLimited published research (1 article)

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: Femoral bowing, Enlarged cisterna magna, and Malformation of the hepatic ductal plate; and common findings: Oligohydramnios, Truncus arteriosus, Pulmonary hypoplasia, and Situs inversus totalis and others. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	5	Cholestasis, Liver scarring (fibrosis) (hepatic fibrosis), Enlarged liver (hepatomegaly)

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.

NEK8 encodes NIMA related kinase 8 (692 aa). Required for renal tubular integrity. May regulate local cytoskeletal structure in kidney tubule epithelial cells. May regulate ciliary biogenesis through targeting of proteins to the cilia. Highest expression in Cells EBV-transformed lymphocytes (18.6 TPM) and Thyroid (18.3 TPM).

Renal-hepatic-pancreatic dysplasia 2 is caused by mutations in the NEK8 gene on chromosome 17.

NEK8 is classified as a druggable target (Druggable Genome, Enzyme, Kinase, and Serine Threonine Kinase categories) with score 0.0.

Diagnosis

Genetic testing for NEK8 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 10 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 2.

1 publication has been identified in PubMed for renal-hepatic-pancreatic dysplasia 2. Research spans Review / Meta-Analysis (100%).

Recent Publications

Roig J (2025). [PMID: 40189576](https://pubmed.ncbi.nlm.nih.gov/40189576/). *Cell communication and signaling : CCS*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 6:53 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615415

GARD

Genetic and Rare Diseases Info Center

GARD:18432

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 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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