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maternal uniparental disomy of chromosome 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

maternal uniparental disomy of chromosome 1

MONDO:0016651

Also known as:UPD(1)matmaternal uniparental disomy of chromosome type 1

Overview

Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.

Diagnosis

Biomarker and diagnostic research for maternal uniparental disomy of chromosome 1 has been reported in the published literature.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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 1.

12 publications have been identified in PubMed for maternal uniparental disomy of chromosome 1. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (25%), and Diagnostic / Biomarker (8%).

Research Type	Count	% of Total
Patient case studies	6	50%

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:251009

GARD

Genetic and Rare Diseases Info Center

GARD:20689

Questions for Your Care Team

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maternal uniparental disomy of chromosome 1

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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