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paternal uniparental disomy of chromosome 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

paternal uniparental disomy of chromosome 5

MONDO:0019920

Also known as:UPD(5)patpaternal uniparental disomy of chromosome type 5

Overview

Paternal uniparental disomy of chromosome 5 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 (7 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 very common findings: Renal duplication, Abnormally large globe, Global developmental delay, and Generalized hypotonia and others.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	1	Renal duplication

Diagnosis

Biomarker and diagnostic research for paternal uniparental disomy of chromosome 5 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 13 very common 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 paternal uniparental disomy of chromosome 5.

8 publications have been identified in PubMed for paternal uniparental disomy of chromosome 5. Research spans Diagnostic / Biomarker (43%), Case Report / Case Series (43%), and Basic Science / Preclinical (14%).

Recent Publications

Galliano I (2026). [PMID: 41899479](https://pubmed.ncbi.nlm.nih.gov/41899479/). *Curr Issues Mol Biol*. [Basic Science / Preclinical]
Sevilla-Porras M (2026). [PMID: 41858073](https://pubmed.ncbi.nlm.nih.gov/41858073/). *Bioinformatics*. [Diagnostic / Biomarker]
Sivakumaran TA (2025). [PMID: 41078589](https://pubmed.ncbi.nlm.nih.gov/41078589/). *Genet Med Open*. [Diagnostic / Biomarker]
Alcántara-Ortigoza MA (2025). [PMID: 40869306](https://pubmed.ncbi.nlm.nih.gov/40869306/). *Int J Mol Sci*. [Case Report / Case Series]
Magliulo S (2025). [PMID: 40543848](https://pubmed.ncbi.nlm.nih.gov/40543848/). *Eur J Med Genet*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:96190

GARD

Genetic and Rare Diseases Info Center

GARD:19339

Questions for Your Care Team

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paternal uniparental disomy of chromosome 5

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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