dyschromatosis universalis hereditaria
Findings
No curated finding names dyschromatosis universalis hereditaria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.
Definition from the Mondo Disease Ontology (MONDO:0000736), read 2026-09-29. CC BY 4.0.
Features
9 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
- Very frequent (80% to 99% of cases)
- Hypopigmented skin patchesHPOHP:0001053
- Very frequent (80% to 99% of cases)
- MaculeHPOHP:0012733
- Very frequent (80% to 99% of cases)
- Spotty hypopigmentationHPOHP:0005590
- Very frequent (80% to 99% of cases)
- Cutaneous photosensitivityHPOHP:0000992
- Frequent (30% to 79% of cases)
- FrecklingHPOHP:0001480
- Frequent (30% to 79% of cases)
- Hearing impairmentHPOHP:0000365
- Frequent (30% to 79% of cases)
- Multiple cafe-au-lait spotsHPOHP:0007565
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Occasional (5% to 29% of cases)
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
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: dyschromatosis universalis hereditaria
- Also called
- dyschromatosis universalis