Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

diaphragmatic hernia 4, with cardiovascular defects - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

diaphragmatic hernia 4, with cardiovascular defects

MONDO:0859571

Overview

GeneticsAutosomal recessive · ALDH1A2 (chr 15)

ResearchLimited published research (9 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: Pulmonary hypoplasia; and common findings: Enlarged liver (hepatomegaly), Recurrent infections, Ventricular septal defect, and Aortic root aneurysm and others.

Organ System	Phenotype Count	Example Features
Lungs and breathing	4	Pulmonary hypoplasia, Pulmonary artery hypoplasia, High blood pressure in lung arteries (pulmonary arterial hypertension)

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.

ALDH1A2 encodes aldehyde dehydrogenase 1 family member A2 (518 aa). Catalyzes the NAD-dependent oxidation of aldehyde substrates, such as all-trans-retinal and all-trans-13,14-dihydroretinal, to their corresponding carboxylic acids, all-trans-retinoate and all-trans-13,14-dihydroretinoate, respectively. Highest expression in Uterus (50.7 TPM) and Cervix Ectocervix (49.7 TPM).

Diaphragmatic hernia 4, with cardiovascular defects is associated with mutations in the ALDH1A2 gene on chromosome 15.

The ALDH1A2 protein participates in ALDH1A2 tetramer, Expression of RET in the nephric duct, and Mammary stem cell produces myoepithelial/basal progenitor pathways.

ALDH1A2 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 1.2.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for ALDH1A2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for diaphragmatic hernia 4, with cardiovascular defects has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 27 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 4, with cardiovascular defects.

9 publications have been identified in PubMed for diaphragmatic hernia 4, with cardiovascular defects. Research spans Epidemiology / Natural History (33%), Diagnostic / Biomarker (22%), and Review / Meta-Analysis (22%).

Recent Publications

Holden KI (2026). [PMID: 40848886](https://pubmed.ncbi.nlm.nih.gov/40848886/). *The Annals of thoracic surgery*. [Epidemiology / Natural History]
Pugnaloni F (2026). [PMID: 41250641](https://pubmed.ncbi.nlm.nih.gov/41250641/). *Journal of perinatal medicine*. [Epidemiology / Natural History]
Sabharwal S (2025). [PMID: 39757195](https://pubmed.ncbi.nlm.nih.gov/39757195/). *Journal of cardiothoracic surgery*. [Review / Meta-Analysis]
Zhao W (2025). [PMID: 40708788](https://pubmed.ncbi.nlm.nih.gov/40708788/). *Frontiers in physiology*. [Review / Meta-Analysis]
Lee WT (2024). [PMID: 39694918](https://pubmed.ncbi.nlm.nih.gov/39694918/). *Pediatric surgery international*. [Diagnostic / Biomarker]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620025

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?

← Back to All Diseases

diaphragmatic hernia 4, with cardiovascular defects

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features