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maternal uniparental disomy of chromosome 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

maternal uniparental disomy of chromosome 4

MONDO:0019911

Also known as:UPD(4)matmaternal uniparental disomy of chromosome type 4

Overview

Maternal uniparental disomy of chromosome 4 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.

ResearchLimited published research (4 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: Rod-cone dystrophy, Pigmentary retinopathy, Nyctalopia, and Nervous system problems (abnormality of the nervous system) and others; and rarely findings: Neurogenic bladder, Inner ear hearing loss (sensorineural hearing impairment), Damage to the optic nerve (optic atrophy), and Diabetes insipidus and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Nervous system problems (abnormality of the nervous system), Depression, Delayed speech and language development

Prognosis

Phenotype severity distribution: 34 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 maternal uniparental disomy of chromosome 4.

4 publications have been identified in PubMed for maternal uniparental disomy of chromosome 4. Research spans Case Report / Case Series (75%) and Other (25%).

Recent Publications

Tian FY (2026). [PMID: 41946590](https://pubmed.ncbi.nlm.nih.gov/41946590/). *Zhonghua Yi Xue Za Zhi*. [Other]
Fontanil H (2026). [PMID: 41178012](https://pubmed.ncbi.nlm.nih.gov/41178012/). *J Forensic Sci*. [Case Report / Case Series]
Olsen SS (2025). [PMID: 40909175](https://pubmed.ncbi.nlm.nih.gov/40909175/). *Case Rep Genet*. [Case Report / Case Series]
Borgione E (2025). [PMID: 40562130](https://pubmed.ncbi.nlm.nih.gov/40562130/). *Gene*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:96180

GARD

Genetic and Rare Diseases Info Center

GARD:19332

Questions for Your Care Team

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maternal uniparental disomy of chromosome 4

Overview

Clinical Presentation

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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