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

Rare Disease

maternal uniparental disomy of chromosome 6

MONDO:0019912

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

Overview

Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.

Patient Orgs1 organizations · Chromosome Disorder Outreach, Inc.

ResearchLimited published research (9 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 common findings: Inguinal hernia, Hydrocele testis, Cleft palate, and Cleft upper lip and others; and sometimes findings: Delayed gross motor development, Accelerated bone age after puberty, Congenital adrenal hyperplasia, and Clitoral hypertrophy and others.

Organ System	Phenotype Count	Example Features
Head and neck	3	Cleft palate, Cleft upper lip, Triangular face

Diagnosis

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

Prognosis

Phenotype severity distribution: 15 common features.

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 6.

9 publications have been identified in PubMed for maternal uniparental disomy of chromosome 6. Research spans Case Report / Case Series (44%), Diagnostic / Biomarker (33%), and Basic Science / Preclinical (11%).

Recent Publications

Molinari S (2026). [PMID: 40977560](https://pubmed.ncbi.nlm.nih.gov/40977560/). *Am J Med Genet A*. [Basic Science / Preclinical]
Mossayebi MH (2026). [PMID: 42153347](https://pubmed.ncbi.nlm.nih.gov/42153347/). *Prenat Diagn*. [Diagnostic / Biomarker]
Świeca A (2025). [PMID: 40282394](https://pubmed.ncbi.nlm.nih.gov/40282394/). *Genes (Basel)*. [Case Report / Case Series]
Marczyk T (2025). [PMID: 40565581](https://pubmed.ncbi.nlm.nih.gov/40565581/). *Genes (Basel)*. [Case Report / Case Series]
Li JW (2024). [PMID: 39075593](https://pubmed.ncbi.nlm.nih.gov/39075593/). *Mol Cytogenet*. [Case Report / Case Series]

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

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

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Chromosome Disorder Outreach, Inc.

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Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

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Medical References

External Resources

Orphanet

European rare disease database

Orphanet:96181

GARD

Genetic and Rare Diseases Info Center

GARD:19333

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with Chromosome Disorder Outreach, Inc. and other patient organizations for support?

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maternal uniparental disomy of chromosome 6

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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