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

Rare Disease

maternal uniparental disomy of chromosome 13

MONDO:0019994

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

Overview

Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.

ResearchLimited published research (6 articles)

Diagnosis

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

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 maternal uniparental disomy of chromosome 13.

6 publications have been identified in PubMed for maternal uniparental disomy of chromosome 13. Research spans Case Report / Case Series (50%), Diagnostic / Biomarker (33%), and Review / Meta-Analysis (17%).

Recent Publications

Tian FY (2026). [PMID: 41946590](https://pubmed.ncbi.nlm.nih.gov/41946590/). *Zhonghua yi xue za zhi*. [Case Report / Case Series]
Wang Y (2025). [PMID: 40084842](https://pubmed.ncbi.nlm.nih.gov/40084842/). *Molecular genetics & genomic medicine*. [Case Report / Case Series]
Borgione E (2025). [PMID: 40562130](https://pubmed.ncbi.nlm.nih.gov/40562130/). *Gene*. [Case Report / Case Series]
Santoli CMA (2024). [PMID: 39288158](https://pubmed.ncbi.nlm.nih.gov/39288158/). *Obstetrical & gynecological survey*. [Review / Meta-Analysis]
Li S (2024). [PMID: 39528276](https://pubmed.ncbi.nlm.nih.gov/39528276/). *Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics*. [Diagnostic / Biomarker]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:97678

GARD

Genetic and Rare Diseases Info Center

GARD:19382

Questions for Your Care Team

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maternal uniparental disomy of chromosome 13

Overview

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team