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spermatogenic failure 42 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spermatogenic failure 42

MONDO:0032896

Also known as:SPGF42

Overview

GeneticsAutosomal recessive · TTC29 (chr 4)

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 always present findings: Male infertility and Reduced sperm motility. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	1	Microcephalic sperm head
Hormones

Genetic Landscape

TTC29 function has not been fully characterized.

Spermatogenic failure 42 is associated with mutations in the TTC29 gene on chromosome 4.

Diagnosis

Genetic testing for TTC29 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 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 42.

6 publications have been identified in PubMed for spermatogenic failure 42. Research spans Basic Science / Preclinical (50%), Case Report / Case Series (17%), and Clinical Trial Publication (17%).

Recent Publications

Caroppo E (2026). [PMID: 40220323](https://pubmed.ncbi.nlm.nih.gov/40220323/). *Andrology*. [Clinical Trial Publication]
Wang Y (2026). [PMID: 41897406](https://pubmed.ncbi.nlm.nih.gov/41897406/). *Biomolecules*. [Basic Science / Preclinical]
Ullah N (2025). [PMID: 40815353](https://pubmed.ncbi.nlm.nih.gov/40815353/). *J Assist Reprod Genet*. [Basic Science / Preclinical]
Liu Y (2025). [PMID: 40442410](https://pubmed.ncbi.nlm.nih.gov/40442410/). *J Assist Reprod Genet*. [Basic Science / Preclinical]
Tsabai PN (2025). [PMID: 39932630](https://pubmed.ncbi.nlm.nih.gov/39932630/). *J Assist Reprod Genet*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618745

GARD

Genetic and Rare Diseases Info Center

GARD:18413

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 42

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

Questions for Your Care Team

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