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paternal uniparental disomy of chromosome 7 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

paternal uniparental disomy of chromosome 7

MONDO:0019922

Also known as:UPD(7)patpaternal uniparental disomy of chromosome type 7

Overview

Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss).

ResearchLimited published research (6 articles)

Diagnosis

Biomarker and diagnostic research for paternal uniparental disomy of chromosome 7 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 paternal uniparental disomy of chromosome 7.

8 publications have been identified in PubMed for paternal uniparental disomy of chromosome 7. Kisho has analyzed 6 by research type. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Diagnostic / Biomarker (17%).

Recent Publications

Molinari S (2026). [PMID: 40977560](https://pubmed.ncbi.nlm.nih.gov/40977560/). *Am J Med Genet A*. [Diagnostic / Biomarker]
D'Angelo E (2025). [PMID: 41276848](https://pubmed.ncbi.nlm.nih.gov/41276848/). *Clin Epigenetics*. [Basic Science / Preclinical]
Alcántara-Ortigoza MA (2025). [PMID: 40869306](https://pubmed.ncbi.nlm.nih.gov/40869306/). *Int J Mol Sci*. [Case Report / Case Series]
Mohamed AM (2025). [PMID: 40730975](https://pubmed.ncbi.nlm.nih.gov/40730975/). *BMC Pediatr*. [Basic Science / Preclinical]
Begemann M (2025). [PMID: 40307819](https://pubmed.ncbi.nlm.nih.gov/40307819/). *Clin Epigenetics*. [Review / Meta-Analysis]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 7:27 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:96192

GARD

Genetic and Rare Diseases Info Center

GARD:19341

Questions for Your Care Team

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paternal uniparental disomy of chromosome 7

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