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nephronophthisis 20 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephronophthisis 20

MONDO:0014997

Also known as:MAPKBP1 nephronophthisis (disease)NPHP20nephronophthisis (disease) caused by mutation in MAPKBP1

Overview

Any nephronophthisis in which the cause of the disease is a mutation in the MAPKBP1 gene.

GeneticsAutosomal recessive · MAPKBP1 (chr 15)

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: Reduced kidney function (renal insufficiency) and Nephronophthisis; and common findings: Stage 5 chronic kidney disease and Sideways curvature of the spine (scoliosis). 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	4	Stage 5 chronic kidney disease, Reduced kidney function (renal insufficiency), Renal cyst

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.

MAPKBP1 encodes mitogen-activated protein kinase binding protein 1 (1,514 aa). Negative regulator of NOD2 function. It down-regulates NOD2-induced processes such as activation of NF-kappa-B signaling, IL8 secretion and antibacterial response. Involved in JNK signaling pathway Highest expression in Brain Cerebellum (124.0 TPM) and Brain Cerebellar Hemisphere (107.6 TPM).

Nephronophthisis 20 is caused by mutations in the MAPKBP1 gene on chromosome 15.

MAPKBP1 is classified as a druggable target (Kinase category) with score 0.0.

Diagnosis

Genetic testing for MAPKBP1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 2 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 nephronophthisis 20.

12 publications have been identified in PubMed for nephronophthisis 20. Research spans Case Report / Case Series (42%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Patient case studies	5	42%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 3:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617271

GARD

Genetic and Rare Diseases Info Center

GARD:18181

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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nephronophthisis 20

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

nephronophthisis 20

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications