ORPHA:166286
Porokeratotic eccrine ostial and dermal duct nevus
Synonyms: Comedo nevus of the palm · Porokeratotic eccrine nevus
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Porokeratotic eccrine ostial and dermal duct nevus | Comedo nevus of the palm · Porokeratotic eccrine nevus |
| fr | Naevus eccrin porokératotique | |
| de | Ostiumnaevus, ekkriner porokeratotischer | Komedonennaevus der Handflächen · PEODDN |
| es | Nevo poroqueratósico del ostio y conducto dérmico ecrinos | Comedonevus de la palma · Nevo comedogénico en la palma · Nevo exocrino poroqueratósico · Nevo poroqueratósico ecrino |
| it | Nevo eccrino porocheratosico del dotto dermico e dell'ostio | Nevo comedonico del palmo · Nevo eccrino porocheratosico |
| nl | Porokeratotische eccriene ostiale en dermale kanaalnaevus | Comedonaevus van palm · Porokeratotische eccriene naevus |
| pt | Nevo poroqueratótico écrino ostial e ductal dérmico | |
| pl | Porokeratotic eccrine ostial and dermal duct nevus | Porokeratotyczne/Rogowaciejące znamię wydzielające · Znamię zaskórnikowe dłoni |
| cs | Porokeratotický ekrinní névus | Nevus comedonicus dlaně |
| uk | Порокератотичний еккринний остіальний та шкірний протоковий невус | Комедоподібний невус долоні · Порокератотичний еккринний невус |
| zh | 汗孔角化性小汗腺口及皮肤导管痣 | 汗孔角化性小汗腺痣 |
| tr | Porokeratotik ekrin ostial ve dermal kanal nevüs | Avuç içinde comedo nevüs · Porokeratotik ekrin nevüs |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q82.5 | NTBT | attributed | validated |
| ICD-11 | LC02 | NTBT | index | validated |
| MONDO | 0015635 | E | validated | |
| UMLS | C0473579 | 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:622914Rare genetic nevus
rare genetic diseases - ORPHA:294057Rare nevus
rare skin diseases; rare neoplastic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GJB2 | Disease-causing somatic mutation(s) in | Assessed | HGNC:4284 | ENSG00000165474 | 121011 | 13q12.11 | gap junction protein beta 2 | 22592158[PMID]_25692760[PMID]_26215685[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 45 cases | Worldwide | Case(s) | Validated | 21393947[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21393947[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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/166286
- This record as JSON: /data/d/166286.json