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paternal uniparental disomy of chromosome 6 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

paternal uniparental disomy of chromosome 6

MONDO:0019921

Also known as:UPD(6)patpaternal uniparental disomy of chromosome type 6

Overview

Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.

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: Cryptorchidism, Labial hypertrophy, Macroglossia, and Gingival overgrowth and others; and sometimes findings: Joint hypermobility, Patent ductus arteriosus, Abdominal wall defect, and Abnormal placenta morphology.

Organ System	Phenotype Count	Example Features
Head and neck	2	High palate, Abnormality of the face

Diagnosis

Biomarker and diagnostic research for paternal uniparental disomy of chromosome 6 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 26 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 6.

7 publications have been identified in PubMed for paternal uniparental disomy of chromosome 6. Research spans Case Report / Case Series (43%), Diagnostic / Biomarker (29%), and Clinical Trial Publication (14%).

Recent Publications

Molinari S (2026). [PMID: 40977560](https://pubmed.ncbi.nlm.nih.gov/40977560/). *Am J Med Genet A*. [Basic Science / Preclinical]
Świeca A (2025). [PMID: 40282394](https://pubmed.ncbi.nlm.nih.gov/40282394/). *Genes (Basel)*. [Case Report / Case Series]
Sivakumaran TA (2025). [PMID: 41078589](https://pubmed.ncbi.nlm.nih.gov/41078589/). *Genet Med Open*. [Diagnostic / Biomarker]
Li JW (2024). [PMID: 39075593](https://pubmed.ncbi.nlm.nih.gov/39075593/). *Mol Cytogenet*. [Case Report / Case Series]
McCullough ME (2024). [PMID: 40302951](https://pubmed.ncbi.nlm.nih.gov/40302951/). *Pediatr Diabetes*. [Clinical Trial Publication]

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:96191

GARD

Genetic and Rare Diseases Info Center

GARD:19340

Questions for Your Care Team

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paternal uniparental disomy of chromosome 6

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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