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heterotaxy, visceral, 7, autosomal (HTX7) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

heterotaxy, visceral, 7, autosomal

MONDO:0014762

Also known as:HTX7MMP21 visceral heterotaxyheterotaxy, visceral, 7, autosomal; HTX7

Overview

Any visceral heterotaxy in which the cause of the disease is a mutation in the MMP21 gene.

GeneticsAutosomal recessive · MMP21 (chr 10)

ResearchLimited published research (6 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 sometimes findings: Dextrocardia, Pulmonary artery hypoplasia, Right aortic arch, and Mitral atresia and others. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	6	Abnormal cardiac septum morphology, Interrupted aortic arch, Right aortic arch

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.

MMP21 encodes matrix metallopeptidase 21 (569 aa). Plays a specialized role in the generation of left-right asymmetry during embryogenesis. May act as a negative regulator of the NOTCH-signaling pathway. Cleaves alpha-1-antitrypsin Highest expression in Ovary (1.9 TPM) and Fallopian Tube (0.6 TPM).

Heterotaxy, visceral, 7, autosomal is associated with mutations in the MMP21 gene on chromosome 10.

MMP21 is classified as a druggable target (Druggable Genome, Enzyme, and Protease categories) with score 2.1.

Diagnosis

Genetic testing for MMP21 is available. Testing is considered confirmatory for diagnosis.

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 heterotaxy, visceral, 7, autosomal.

6 publications have been identified in PubMed for heterotaxy, visceral, 7, autosomal. Research spans Review / Meta-Analysis (33%), Epidemiology / Natural History (33%), and Case Report / Case Series (17%).

Recent Publications

Xie XH (2025). [PMID: 40467998](https://pubmed.ncbi.nlm.nih.gov/40467998/). *J Hum Genet*. [Epidemiology / Natural History]
Pasquetti D (2025). [PMID: 39858609](https://pubmed.ncbi.nlm.nih.gov/39858609/). *Genes (Basel)*. [Review / Meta-Analysis]
Al-Korashy M (2025). [PMID: 39513328](https://pubmed.ncbi.nlm.nih.gov/39513328/). *Clin Genet*. [Epidemiology / Natural History]
Szenker-Ravi E (2025). [PMID: 39753129](https://pubmed.ncbi.nlm.nih.gov/39753129/). *Am J Hum Genet*. [Basic Science / Preclinical]
Chen Q (2025). [PMID: 40679208](https://pubmed.ncbi.nlm.nih.gov/40679208/). *Hum Mol Genet*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616749

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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heterotaxy, visceral, 7, autosomal

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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