Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare, genetic, isolated, focal palmoplantar keratoderma disease characterized by focal thickening of the skin of the soles, and often of the palms, associated with minimal or no nail involvement. Patients frequently present non-epidermolytic painful plantar blistering and, occasionally, subtle oral leukokeratosis or plantar hyperhidrosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering | |
| fr | Kératodermie palmoplantaire focale non épidermolytique autosomique dominante avec atteintes bulleuses | |
| de | Autosomal-dominante fokale nicht-epidermolytische Palmoplantarkeratose mit Blasenbildungen an den Füßen | |
| es | Queratodermia palmoplantar focal no epidermolítica autosómica dominante con ampollas plantares | |
| it | Cheratoderma palmoplantare focale non epidermolitico, autosomico dominante, con vesciche plantari | |
| nl | Autosomaal dominante focale niet-epidermolytische palmoplantaire keratodermie met plantaire blaarvorming | |
| pt | Queratodermia palmoplantar não-epidermolítica focal autossómica dominante com formação de bolhas | |
| pl | Autosomalna dominująca ogniskowa nie epidermolityczna keratoderma dłoni i stóp z pęcherzami stóp | |
| cs | Autozomálně dominantně dědičná fokální non-epidermolytická palmoplantární keratoderma s plantárními puchýři | |
| uk | Аутосомно-домінантна фокальна неепідермолітична долонно-підошовна кератодермія з підошовними пухирями | |
| zh | 常染色体显性局灶性非表皮松解性掌跖角化病伴足底起疱 | |
| tr | Plantar kabarmalı otozomal dominant fokal epidermolitik olmayan palmoplantar keratoderma |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615735 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.31 | NTBT | attributed | validated |
| MONDO | 0014327 | E | validated | |
| UMLS | C5190822 | 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 (1):
- ORPHA:307846Isolated focal palmoplantar keratoderma
rare genetic diseases; rare skin diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KRT6C | Disease-causing germline mutation(s) in | Assessed | HGNC:20406 | ENSG00000170465 | 612315 | 12q13.13 | keratin 6C | 21801157[PMID]_19609311[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 21 cases | Worldwide | Case(s) | Validated | 21801157[PMID]_19609311[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21801157[PMID]_19609311[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/402003
- This record as JSON: /data/d/402003.json