ORPHA:183466
Genetic hyperpigmentation of the skin
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Genetic hyperpigmentation of the skin | |
| fr | Hyperpigmentation cutanée génétique | |
| de | Hyperpigmentierung der Haut, genetisch bedingte | |
| es | Hiperpigmentación genética de la piel | |
| it | Iperpigmentazione della cute di origine genetica | |
| nl | Genetische hyperpigmentatie van huid | |
| pt | Hiperpigmentação da pele, genética | |
| pl | Hiperpigmentacja skóry uwarunkowana genetycznie | |
| cs | Geneticky podmíněné hyperpigmentace kůže | |
| uk | Генетично обумовлена гіперпігментація шкіри | |
| zh | 遗传性皮肤色素沉着过多 | |
| tr | Derinin genetik hiperpigmentasyonu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680575 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:183463Genetic pigmentation anomaly of the skin
rare genetic diseases
Children (34):
- ORPHA:1359Carney complex
- ORPHA:319340Carney complex-trismus-pseudocamptodactyly syndrome
- ORPHA:86920Dermatopathia pigmentosa reticularis
- ORPHA:79145Dowling-Degos disease
- ORPHA:41Dyschromatosis symmetrica hereditaria
- ORPHA:241Dyschromatosis universalis hereditaria
- ORPHA:1775Dyskeratosis congenita
- ORPHA:1964Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
- ORPHA:231040Familial generalized lentiginosis
- ORPHA:2678Familial isolated café-au-lait macules
- ORPHA:79146Familial progressive hyperpigmentation
- ORPHA:84Fanconi anemia
- ORPHA:93921Full schwannomatosis
- ORPHA:2069Gastrocutaneous syndrome
- ORPHA:168569H syndrome
- ORPHA:1336Hyperkeratosis-hyperpigmentation syndrome
- ORPHA:508512Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
- ORPHA:137605Legius syndrome
- ORPHA:79150Linear and whorled nevoid hypermelanosis
- ORPHA:562McCune-Albright syndrome
- ORPHA:634511Mosaic Legius syndrome
- ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome
- ORPHA:423454Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
- ORPHA:33445Neuroectodermal melanolysosomal disease
- ORPHA:636Neurofibromatosis type 1
- ORPHA:638Neurofibromatosis-Noonan syndrome
- ORPHA:500Noonan syndrome with multiple lentigines
- ORPHA:2779Osteopathia striata-pigmentary dermopathy-white forelock syndrome
- ORPHA:2869Peutz-Jeghers syndrome
- ORPHA:2875Phakomatosis pigmentovascularis
- ORPHA:178307Reticulate acropigmentation of Kitamura
- ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
- ORPHA:88630Terminal osseous dysplasia-pigmentary defects syndrome
- ORPHA:85453X-linked reticulate pigmentary disorder
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/183466
- This record as JSON: /data/d/183466.json