dyschromatosis universalis hereditaria 3
Findings
No curated finding names dyschromatosis universalis hereditaria 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any dyschromatosis universalis hereditaria in which the cause of the disease is a mutation in the ABCB6 gene.
Definition from the Mondo Disease Ontology (MONDO:0014169), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
2 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Hypermelanotic maculeHPOHP:0001034
- Childhood onset
- Hypopigmented maculeHPOHP:0020073
- Childhood onset
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ABCB6HGNC:47
- Strong · G2P · Autosomal dominant · 2025
- Moderate · ClinGen · Autosomal dominant · 2026
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
Where it sits
Other names
3 names
Resolves to: dyschromatosis universalis hereditaria 3
- Also called
- ABCB6 dyschromatosis universalis hereditariadyschromatosis universalis hereditaria caused by mutation in ABCB6dyschromatosis universalis hereditaria type 3