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diaphragmatic hernia 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

diaphragmatic hernia 3

MONDO:0012431

Also known as:ZFPM2 congenital diaphragmatic herniacongenital diaphragmatic hernia caused by mutation in ZFPM2diaphragmatic hernia type 3

Overview

Any congenital diaphragmatic hernia in which the cause of the disease is a mutation in the ZFPM2 gene.

GeneticsAutosomal dominant · ZFPM2 (chr 8)

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: Pulmonary hypoplasia, Seizure, Gait ataxia, and Abnormal pulmonary fissure architecture and others; and very common findings: Congenital diaphragmatic hernia. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	9	Pulmonary hypoplasia, Abnormal pulmonary fissure architecture, Respiratory failure

Genetic Landscape

ZFPM2 function has not been fully characterized.

Diaphragmatic hernia 3 is associated with mutations in the ZFPM2 gene on chromosome 8.

Diagnosis

Genetic testing for ZFPM2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for diaphragmatic hernia 3 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 18 always present features, 1 very common feature, 3 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 diaphragmatic hernia 3.

74 publications have been identified in PubMed for diaphragmatic hernia 3. Research spans Clinical Trial Publication (39%), Epidemiology / Natural History (20%), and Case Report / Case Series (15%).

Research Type	Count	% of Total
Clinical study results	29	39%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610187

GARD

Genetic and Rare Diseases Info Center

GARD:15474

Questions for Your Care Team

→Should I pursue genetic testing for ZFPM2, and what would the results mean for my family?
→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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Kisho

diaphragmatic hernia 3

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

Latest News & Developments

Alterations of endothelial cell bioenergetics in congenital diaphragmatic hernia.

diaphragmatic hernia 3

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

Latest News & Developments

Alterations of endothelial cell bioenergetics in congenital diaphragmatic hernia.