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spermatogenic failure 38 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spermatogenic failure 38

MONDO:0032748

Also known as:SPGF38

Overview

GeneticsAutosomal recessive · ARMC2 (chr 6)

ResearchLimited published research (3 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: Tapered sperm head; and very common findings: Coiled sperm flagella. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	1	Male infertility
Lungs and breathing

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.

ARMC2 encodes armadillo repeat containing 2 (867 aa). Required for sperm flagellum axoneme organization and function. Involved in axonemal central pair complex assembly and/or stability Highest expression in Testis (24.7 TPM) and Pituitary (8.4 TPM).

Spermatogenic failure 38 is caused by mutations in the ARMC2 gene on chromosome 6.

ARMC2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for ARMC2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very 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 38.

3 publications have been identified in PubMed for spermatogenic failure 38. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

Ruan J (2026). [PMID: 41596239](https://pubmed.ncbi.nlm.nih.gov/41596239/). *Int J Mol Sci*. [Basic Science / Preclinical]
Caroppo E (2026). [PMID: 40220323](https://pubmed.ncbi.nlm.nih.gov/40220323/). *Andrology*. [Case Report / Case Series]
Wang X (2025). [PMID: 41339899](https://pubmed.ncbi.nlm.nih.gov/41339899/). *Reprod Biol Endocrinol*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 12:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618433

GARD

Genetic and Rare Diseases Info Center

GARD:18409

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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spermatogenic failure 38

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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