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dyschromatosis universalis hereditaria 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dyschromatosis universalis hereditaria 3

MONDO:0014169

Also known as:ABCB6 dyschromatosis universalis hereditariadyschromatosis universalis hereditaria caused by mutation in ABCB6dyschromatosis universalis hereditaria type 3

Overview

Any dyschromatosis universalis hereditaria in which the cause of the disease is a mutation in the ABCB6 gene.

GeneticsAutosomal dominant · ABCB6 (chr 2)

OnsetCHILDHOOD

ResearchLimited published research (5 articles)

Clinical Presentation

Features include: Hypermelanotic macule and Hypopigmented macule.

Age of onset: childhood.

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ABCB6 encodes ATP binding cassette subfamily B member 6 (LAN blood group) (842 aa). ATP-dependent transporter that catalyzes the transport of a broad-spectrum of porphyrins from the cytoplasm to the extracellular space through the plasma membrane or into the vesicle lumen. Highest expression in Testis (101.0 TPM) and Ovary (98.5 TPM).

Dyschromatosis universalis hereditaria 3 has been associated with mutations in the ABCB6 gene on chromosome 2.

The ABCB6 protein participates in Defective ABCB6 causes MCOPCB7, ABCB6 transports porphyrin from cytosol to mitchondrial matrix, and Defective ABCB6 does not transport porphyrin from cytosol into mitochondria matrix pathways.

ABCB6 is classified as a druggable target (Abc Transporter, Druggable Genome, and Transporter categories) with score 0.0.

16 pathogenic variants reported in ABCB6 in ClinVar, including hotspot variants 1284646 and 68473.

Diagnosis

Genetic testing for ABCB6 is available. Testing is considered supportive 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 3.

6 publications have been identified in PubMed for dyschromatosis universalis hereditaria 3. Research spans Case Report / Case Series (60%) and Review / Meta-Analysis (40%).

Recent Publications

Bishnoi A (2025). [PMID: 40511878](https://pubmed.ncbi.nlm.nih.gov/40511878/). *Pigment Cell Melanoma Res*. [Review / Meta-Analysis]
Wang XL (2025). [PMID: 41283180](https://pubmed.ncbi.nlm.nih.gov/41283180/). *World J Clin Cases*. [Case Report / Case Series]
Yuan L (2025). [PMID: 40584949](https://pubmed.ncbi.nlm.nih.gov/40584949/). *Skin Health Dis*. [Review / Meta-Analysis]
Wang T (2025). [PMID: 40115815](https://pubmed.ncbi.nlm.nih.gov/40115815/). *Front Genet*. [Case Report / Case Series]
Goswami PR (2024). [PMID: 39310073](https://pubmed.ncbi.nlm.nih.gov/39310073/). *Int J Appl Basic Med Res*. [Case Report / Case Series]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 6:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615402

GARD

Genetic and Rare Diseases Info Center

GARD:15959

Questions for Your Care Team

→Should I pursue genetic testing for ABCB6, 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 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team