Familial generalized lentiginosis
Synonyms: Familial lentigines profusa · Familial multiple lentigines syndrome without systemic involvement
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Unknown
- Age of onset
- All ages
- Status
- active
Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial generalized lentiginosis | Familial lentigines profusa · Familial multiple lentigines syndrome without systemic involvement |
| fr | Lentiginose généralisée familiale | Syndrome des lentigines multiples familial sans manifestation systémique |
| de | Lentiginosis, generalisierte, familiäre Form | Familiäres Multiple-Lentigines-Syndrom ohne systemische Beteiligung · Lentiginosis profusa, familiäre |
| es | Lentiginosis generalizada familiar | Síndrome de lentígines múltiples familiar sin afectación sistémica |
| it | Lentigginosi generalizzata familiare | Lentiggini diffuse familiari · Sindrome delle lentiggini multiple familiari senza interessamento sistemico |
| nl | Familiale gegeneraliseerde lentiginose | Familiale lentigines profusa · Familiale meervoudige lentigines-syndroom zonder systemische betrokkenheid |
| pt | Lentiginose generalizada familiar | |
| pl | Rodzinne uogólnione plamy soczewicowate | Rodzinny zespół mnogich plam soczewicowatych |
| cs | Familiární generalizovaná lentiginóza | Familiární lentigines profusa · Familiární mnohočetný lentiginózní syndrom bez systémového postižení |
| uk | Сімейний генералізований лентигіноз | Сімейна lentigines profusa · Сімейний синдром множинної lentigines profusa без системного ураження |
| zh | 家族性泛发性雀斑样痣病 | 家族性泛发性雀斑样痣综合征不伴全身累及 |
| tr | Ailesel jeneralize lentijinoz | Ailesel lentigines profusa · Sistemik tutulum olmayan ailesel çoklu lentijin sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 151001 | E | validated | |
| ICD-10 | L81.4 | NTBT | attributed | validated |
| ICD-11 | EC23.0 | NTBT | index | validated |
| MONDO | 0007891 | E | validated | |
| UMLS | C4707357 | 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 |
|---|---|---|---|---|---|---|---|---|
| SASH1 | Disease-causing germline mutation(s) in | Assessed | HGNC:19182 | ENSG00000111961 | 607955 | 6q24.3-q25.1 | SAM and SH3 domain containing 1 | 26203640[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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/231040
- This record as JSON: /data/d/231040.json