Familial progressive hyperpigmentation
Synonyms: Melanosis diffusa congenita · Melanosis universalis hereditaria · Universal melanosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjunctiva. No hypopigmentation macules are observed and no systemic diseases are associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial progressive hyperpigmentation | Melanosis diffusa congenita · Melanosis universalis hereditaria · Universal melanosis |
| fr | Hyperpigmentation progressive familiale | Mélanose diffuse congénitale · Mélanose universelle · Mélanose universelle héréditaire |
| de | Hyperpigmentierung, familiäre progressive | Melanose, universelle · Melanosis diffusa congenita · Melanosis unversalis hereditaria |
| es | Hiperpigmentación familiar progresiva | Melanosis difusa congénita · Melanosis universal · Melanosis universal hereditaria · Melanosis universalis hereditaria |
| it | Iperpigmentazione familiare progressiva | Melanosi diffusa congenita · Melanosi universale · Melanosi universale ereditaria |
| nl | Familiale progressieve hyperpigmentatie | Melanosis diffusa congenita · Melanosis universalis hereditaria · Universele melanose |
| pt | Hiperpigmentação progressiva familiar | Melanose difusa congénita · Melanose universal · Melanosis universalis hereditária |
| pl | Rodzinna postępująca hiperpigmentacja | Dziedziczna melanoza uogólniona · Universal melanosis · Wrodzona melanoza rozsiana |
| cs | Familiární progresivní hyperpigmentace | Melanosis diffusa congenita · Melanosis universalis hereditaria · Univerzální melanóza |
| uk | Сімейна прогресуюча гіперпігментація | Вроджений дифузний меланоз · Спадковий універсальний меланоз · Універсальний меланоз |
| zh | 家族性进行性色素沉着 | 遗传性泛发性黑变病 |
| tr | Ailesel ilerleyici hiperpigmentasyon | Evrensel melanoz · Melanoz diffusa konjenita · Melanosis universalis hereditaria |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 145250 | BTNT | validated | |
| OMIM | 614233 | E | validated | |
| ICD-10 | L81.4 | NTBT | attributed | validated |
| ICD-11 | EC23.0 | NTBT | index | validated |
| MONDO | 0013648 | E | validated | |
| MeSH | C564163 | E | validated | |
| UMLS | C1840392 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KITLG | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:6343 | ENSG00000049130 | 184745 | 12q21.32 | KIT ligand | 19375057[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79146
- This record as JSON: /data/d/79146.json