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

spermatogenic failure 7 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spermatogenic failure 7

MONDO:0013070

Also known as:spermatogenic failure type 7Male infertility, nonsyndromic, autosomal recessiveSPGF7

Overview

GeneticsAutosomal recessive · CATSPER1 (chr 11)

Clinical Presentation

Features include always present findings: Male infertility, Reduced sperm motility, and Oligozoospermia; and common findings: Immotile sperm.

Organ System	Phenotype Count	Example Features
Hormones	1	Male infertility

Explore clinical features

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.

CATSPER1 encodes cation channel sperm associated 1 (780 aa). Pore-forming subunit of the CatSper complex, a sperm-specific voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilizatio... Highest expression in Testis (45.8 TPM) and Whole Blood (2.9 TPM).

Spermatogenic failure 7 is associated with mutations in the CATSPER1 gene on chromosome 11.

The CATSPER1 protein participates in CatSper Channel Mediated Calcium Transport pathway.

CATSPER1 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 0.0.

Diagnosis

Genetic testing for CATSPER1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spermatogenic failure 7 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 1 common feature.

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 spermatogenic failure 7.

16 publications have been identified in PubMed for spermatogenic failure 7. Research spans Basic Science / Preclinical (38%), Epidemiology / Natural History (31%), and Case Report / Case Series (13%).

Research Type	Count	% of Total
Laboratory research	6	38%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 1:14 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612997

GARD

Genetic and Rare Diseases Info Center

GARD:18400

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

spermatogenic failure 7

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications