ORPHA:241
Dyschromatosis universalis hereditaria
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare, genetic, pigmentation anomaly of the skin characterized by generalized, irregularly shaped, asymptomatic, hyper- and hypopigmented macules distributed in a reticular pattern involving the trunk, limbs, and sometimes the face. The palms, soles and mucosa are usually not affected. Systemic abnormalities have been rarely reported.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dyschromatosis universalis hereditaria | |
| fr | Dyschromatose héréditaire universelle | |
| de | Dyschromatosis universalis hereditaria | |
| es | Discromatosis universal hereditaria | |
| it | Discromatosi universale ereditaria | |
| nl | Dyschromatosis universalis hereditaria | |
| pt | Discromatose universal hereditária | |
| pl | Dyschromatoza uniwersalna | |
| cs | Dyschromatosis universalis hereditaria | |
| uk | Універсальний спадковий дисхроматоз | |
| zh | 遗传性泛发性色素异常病 | |
| tr | Diskromatozis universalis hereditaria |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 127500 | E | validated | |
| OMIM | 612715 | BTNT | validated | |
| OMIM | 615402 | BTNT | validated | |
| ICD-10 | L81.8 | NTBT | attributed | validated |
| ICD-11 | EC23.Y | NTBT | index | validated |
| MONDO | 0000736 | E | validated | |
| MeSH | C535730 | E | validated | |
| UMLS | C2930995 | E | validated | |
| GARD | 1996 | 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 |
|---|---|---|---|---|---|---|---|---|
| ABCB6 | Disease-causing germline mutation(s) in | Assessed | HGNC:47 | ENSG00000115657 | 605452 | 2q35 | ATP binding cassette subfamily B member 6 (LAN blood group) | 23519333[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001034 | Hypermelanotic macule | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0012733 | Macule | |
| HP:0005590 | Spotty hypopigmentation | |
| Frequent (79-30%) | ||
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0001480 | Freckling | |
| HP:0000365 | Hearing impairment | |
| HP:0007565 | Multiple cafe-au-lait spots | |
| Occasional (29-5%) | ||
| HP:0004322 | Short stature | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/241
- This record as JSON: /data/d/241.json