ORPHA:98352
Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
Synonyms: Autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal dominant
- 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 | Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature | Autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature |
| fr | Maladie autosomique dominante avec kératodermie palmoplantaire diffuse comme manifestation majeure | Maladie autosomique dominante avec hyperkératose palmoplantaire diffuse comme manifestation majeure |
| de | Autosomal-dominante Krankheit mit assoziierter diffuser Palmoplantarkeratose als Hauptmerkmal | |
| es | Enfermedad autosómica dominante con queratodermia palmoplantar difusa como característica principal | Enfermedad autosómica dominante con hiperqueratosis palmoplantar difusa como característica principal |
| it | Malattia autosomica dominante con cheratoderma palmoplantare diffuso come segno cardinale | Malattia autosomica dominante con ipercheratosi palmoplantare diffuso come segno cardinale |
| nl | Autosomaal dominante ziekte met diffuse palmoplantaire keratodermie als hoofdkenmerk | Autosomaal dominante ziekte met diffuse palmoplantaire hyperkeratose als hoofdkenmerk |
| pt | Doença autossómica dominante com queratodermia palmoplantar difusa como característica principal | Doença autossómica dominante com hiperqueratose palmoplantar difusa como característica principal |
| pl | Autosomalna dominująca choroba z rozlanym rogowcem dłoniowo-podeszwowym jako głównym objawem | Autosomalna dominująca choroba z rozlaną hiperkeratozą dłoniowo-podeszwową jako głównym objawem |
| cs | Autozomálně dominantní onemocnění s difuzní palmoplantární keratodermou jako hlavním znakem | Autozomálně dominantní onemocnění s difuzní palmoplantární hyperkeratózou jako hlavním znakem |
| uk | Аутосомно-домінантне захворювання з дифузною долонно-підошовною кератодермією як основною ознакою | Аутосомно-домінантне захворювання з дифузним долонно-підошовним гіперкератозом як основною ознакою |
| zh | 以弥漫性掌跖角化为主要表现的常染色体显性遗传性疾病 | 以弥漫性掌跖角化过度为主要表现的常染色体显性遗传性疾病 |
| tr | Esas klinik özelliği yaygın palmoplantar keratoderma olan otozomal dominant hastalık | Esas klinik özelliği yaygın palmoplantar hiperkeratoz olan otozomal dominant hastalık |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680344 | 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:307711Disease with diffuse palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin diseases
Children (15):
- ORPHA:307773Autosomal dominant diffuse mutilating palmoplantar keratoderma
- ORPHA:1010Autosomal dominant palmoplantar keratoderma and congenital alopecia
- ORPHA:352662Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
- ORPHA:307766Curly hair-acral keratoderma-caries syndrome
- ORPHA:86920Dermatopathia pigmentosa reticularis
- ORPHA:86918Diffuse palmoplantar keratoderma-acrocyanosis syndrome
- ORPHA:189Hidrotic ectodermal dysplasia
- ORPHA:384Huriez syndrome
- ORPHA:477KID syndrome
- ORPHA:86919Keratosis palmaris et plantaris-clinodactyly syndrome
- ORPHA:2698Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
- ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome
- ORPHA:2202Palmoplantar keratoderma-deafness syndrome
- ORPHA:538574Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
- ORPHA:316Progressive symmetric erythrokeratodermia
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/98352
- This record as JSON: /data/d/98352.json