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dyschromatosis universalis hereditaria 1 (DUH1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dyschromatosis universalis hereditaria 1

MONDO:0024524

Also known as:DUH1

Overview

GeneticsAutosomal dominant · SASH1 (chr 6)

ResearchLimited published research (5 articles)

Clinical Presentation

Features include: Hyperpigmented/hypopigmented macules.

Organ System	Phenotype Count	Example Features
Skin	1	Hyperpigmented/hypopigmented macules

Explore clinical features

Genetic Landscape

SASH1 function has not been fully characterized.

Dyschromatosis universalis hereditaria 1 is associated with mutations in the SASH1 gene on chromosome 6.

Diagnosis

Genetic testing for SASH1 is available. Testing is considered confirmatory for diagnosis.

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 dyschromatosis universalis hereditaria 1.

6 publications have been identified in PubMed for dyschromatosis universalis hereditaria 1. Research spans Review / Meta-Analysis (60%), Case Report / Case Series (20%), and Basic Science / Preclinical (20%).

Recent Publications

Okamura K (2026). [PMID: 41127964](https://pubmed.ncbi.nlm.nih.gov/41127964/). *J Dermatol*. [Review / Meta-Analysis]
Wang T (2025). [PMID: 40115815](https://pubmed.ncbi.nlm.nih.gov/40115815/). *Front Genet*. [Case Report / Case Series]
Cui H (2025). [PMID: 41284354](https://pubmed.ncbi.nlm.nih.gov/41284354/). *Pigment Cell Melanoma Res*. [Basic Science / Preclinical]
Bishnoi A (2025). [PMID: 40511878](https://pubmed.ncbi.nlm.nih.gov/40511878/). *Pigment Cell Melanoma Res*. [Review / Meta-Analysis]
Mohapatra L (2024). [PMID: 39139099](https://pubmed.ncbi.nlm.nih.gov/39139099/). *Clin Exp Dermatol*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 4:15 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:127500

Questions for Your Care Team

→Should I pursue genetic testing for SASH1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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dyschromatosis universalis hereditaria 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team