ORPHA:41
Dyschromatosis symmetrica hereditaria
Synonyms: Acropigmentation of Dohi
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare genodermatosis characterized by the presence of the mixture of hyperpigmented and hypopigmented macules of approximately 5mm in diameter, principally located on the extremities.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dyschromatosis symmetrica hereditaria | Acropigmentation of Dohi |
| fr | Dyschromatose symétrique des extrémités | Acropigmentation de Dohi |
| de | Dyschromatosis symmetrica hereditaria | Retikuläre Akropigmentierung Dohi |
| es | Discromatosis simétrica hereditaria | Acropigmentación de Dohi |
| it | Discromatosi simmetrica ereditaria | Acropigmentazione di Dohi |
| nl | Dyschromatosis symmetrica hereditaria | Acropigmentatie van Dohi · Erfelijke symmetrische dyschromatose |
| pt | Acropigmentação de Dohi | Discromatose simétrica hereditária |
| pl | Dziedziczna dyschromatoza symetryczna | = en |
| cs | Dyschromatosis symmetrica hereditaria | Dohiho akropigmentace |
| uk | Спадковий симетричний дисхроматоз | Акропігментація Дохі |
| zh | 遗传性对称性色素异常症 | 多伊肢端色素沉着 |
| tr | Diskromatoz simetrika hereditaria | Dohi'nin akropigmentasyonu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 127400 | E | validated | |
| ICD-10 | L81.8 | NTBT | attributed | validated |
| ICD-11 | EC23.Y | NTBT | index | validated |
| MONDO | 0007483 | E | validated | |
| MeSH | C535729 | E | validated | |
| UMLS | C0406775 | E | validated | |
| GARD | 334 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:183466Genetic hyperpigmentation of the skin
rare genetic diseases - ORPHA:79375Hyperpigmentation of the skin
rare skin diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADAR | Disease-causing germline mutation(s) in | Assessed | HGNC:225 | ENSG00000160710 | 146920 | 1q21.3 | adenosine deaminase RNA specific | 12916015[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 300 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | 1.5 / 100 000 | Japan | Value and class | Validated | 12916015[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011509 | Macular hyperpigmentation | |
| HP:0007988 | Macular hypopigmentation | |
| HP:0012733 | Macule | |
| Frequent (79-30%) | ||
| HP:0001304 | Torsion dystonia | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/41
- This record as JSON: /data/d/41.json