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heterotaxy, visceral, 9, autosomal, with male infertility (HTX9) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

heterotaxy, visceral, 9, autosomal, with male infertility

MONDO:0030070

Also known as:HTX9

Overview

GeneticsAutosomal recessive · MNS1 (chr 15)

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: Male infertility; and common findings: Situs inversus totalis and Dextrocardia. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	1	Male infertility
Ears

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.

MNS1 encodes meiosis specific nuclear structural 1 (495 aa). Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating. Highest expression in Testis (105.9 TPM) and Brain Cerebellar Hemisphere (14.6 TPM).

Heterotaxy, visceral, 9, autosomal, with male infertility is associated with mutations in the MNS1 gene on chromosome 15.

MNS1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for MNS1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 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 heterotaxy, visceral, 9, autosomal, with male infertility.

1 publication has been identified in PubMed for heterotaxy, visceral, 9, autosomal, with male infertility. Research spans Basic Science / Preclinical (100%).

Recent Publications

Hjeij R (2024). [PMID: 38920647](https://pubmed.ncbi.nlm.nih.gov/38920647/). *Cells*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618948

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, 9, autosomal, with male infertility

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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