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spermatogenic failure 48 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spermatogenic failure 48

MONDO:0030846

Also known as:SPGF48

Overview

GeneticsAutosomal recessive · M1AP (chr 2)

ResearchLimited published research (6 articles)

Clinical Presentation

Features include always present findings: Male infertility, Oligozoospermia, and Azoospermia. 4 total HPO annotations.

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.

M1AP encodes meiosis 1 associated protein (530 aa). Required for meiosis I progression during spermatogenesis Highest expression in Testis (12.3 TPM) and Pituitary (3.0 TPM).

Spermatogenic failure 48 is associated with mutations in the M1AP gene on chromosome 2.

M1AP is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for M1AP is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spermatogenic failure 48 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present 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 spermatogenic failure 48.

6 publications have been identified in PubMed for spermatogenic failure 48. Research spans Review / Meta-Analysis (50%), Diagnostic / Biomarker (17%), and Basic Science / Preclinical (17%).

Recent Publications

Tian Y (2026). [PMID: 41751410](https://pubmed.ncbi.nlm.nih.gov/41751410/). *Curr Issues Mol Biol*. [Basic Science / Preclinical]
Kaltsas A (2026). [PMID: 41614953](https://pubmed.ncbi.nlm.nih.gov/41614953/). *Curr Issues Mol Biol*. [Review / Meta-Analysis]
Noor AA (2026). [PMID: 41271156](https://pubmed.ncbi.nlm.nih.gov/41271156/). *Parasitol Int*. [Epidemiology / Natural History]
Oud MS (2025). [PMID: 39180390](https://pubmed.ncbi.nlm.nih.gov/39180390/). *Andrology*. [Diagnostic / Biomarker]
Wang X (2025). [PMID: 41339899](https://pubmed.ncbi.nlm.nih.gov/41339899/). *Reprod Biol Endocrinol*. [Review / Meta-Analysis]
Zhou F (2025). [PMID: 41401169](https://pubmed.ncbi.nlm.nih.gov/41401169/). *PLoS One*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619108

GARD

Genetic and Rare Diseases Info Center

GARD:16420

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 48

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team