dyschromatosis symmetrica hereditaria
Findings
No curated finding names dyschromatosis symmetrica hereditaria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Acropigmentation of Dohi is a genodermatosis characterized by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs.
Definition from the Mondo Disease Ontology (MONDO:0007483), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
5 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.
- Macular hyperpigmentationHPOHP:0011509
- Very frequent (80% to 99% of cases)
- Macular hypopigmentationHPOHP:0007988
- Very frequent (80% to 99% of cases)
- MaculeHPOHP:0012733
- Very frequent (80% to 99% of cases)
- Torsion dystoniaHPOHP:0001304
- Frequent (30% to 79% of cases)
- Hyperpigmented/hypopigmented maculesHPOHP:0007441
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.
- ADARHGNC:225
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: dyschromatosis symmetrica hereditaria
- Also called
- acropigmentation of DohiDSH1RADreticulate acropigmentation of Dohi