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paternal uniparental disomy of chromosome 13 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

paternal uniparental disomy of chromosome 13

MONDO:0020468

Also known as:UPD(13)patpaternal uniparental disomy of chromosome type 13

Overview

Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.

ResearchLimited published research (5 articles)

Diagnosis

Biomarker and diagnostic research for paternal uniparental disomy of chromosome 13 has been reported in the published literature.

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 paternal uniparental disomy of chromosome 13.

6 publications have been identified in PubMed for paternal uniparental disomy of chromosome 13. Research spans Diagnostic / Biomarker (60%) and Case Report / Case Series (40%).

Recent Publications

Zhou L (2025). [PMID: 41451489](https://pubmed.ncbi.nlm.nih.gov/41451489/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Diagnostic / Biomarker]
Wang Y (2025). [PMID: 40084842](https://pubmed.ncbi.nlm.nih.gov/40084842/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Sasidharan Pillai S (2024). [PMID: 39193092](https://pubmed.ncbi.nlm.nih.gov/39193092/). *JCEM Case Rep*. [Case Report / Case Series]
Li S (2024). [PMID: 39528276](https://pubmed.ncbi.nlm.nih.gov/39528276/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Diagnostic / Biomarker]
Kugalingam N (2024). [PMID: 39193956](https://pubmed.ncbi.nlm.nih.gov/39193956/). *Clin Lab*. [Diagnostic / Biomarker]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 9:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:99324

GARD

Genetic and Rare Diseases Info Center

GARD:19678

Questions for Your Care Team

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paternal uniparental disomy of chromosome 13

Overview

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team