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nephronophthisis 19 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephronophthisis 19

MONDO:0014537

Also known as:DCDC2 nephronophthisis (disease)NPHP19nephronophthisis (disease) caused by mutation in DCDC2

Overview

Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene.

GeneticsAutosomal recessive · DCDC2 (chr 6)

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: Cholestasis, Enlarged liver (hepatomegaly), and Enlarged spleen (splenomegaly); and common findings: Stage 5 chronic kidney disease, Renal interstitial fibrosis, Bile duct proliferation, and Liver scarring (fibrosis) (hepatic fibrosis) and others.

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.

DCDC2 encodes doublecortin domain containing 2 (476 aa). Protein that plays a role in the inhibition of canonical Wnt signaling pathway. May be involved in neuronal migration during development of the cerebral neocortex. Highest expression in Kidney Medulla (32.6 TPM) and Kidney Cortex (19.0 TPM).

Nephronophthisis 19 is associated with mutations in the DCDC2 gene on chromosome 6.

The DCDC2 protein participates in Primary multipotent pancreatic progenitor cell produces trunk bipotent pancreatic progenitor cell and Trunk bipotent pancreatic progenitor cell produces pancreatic ductal cell pathways.

DCDC2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for DCDC2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 7 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 19.

1 publication has been identified in PubMed for nephronophthisis 19. Research spans Case Report / Case Series (100%).

Recent Publications

Sawada Y (2025). [PMID: 40475304](https://pubmed.ncbi.nlm.nih.gov/40475304/). *Kidney Med*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:30 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616217

GARD

Genetic and Rare Diseases Info Center

GARD:18081

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 19

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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