ORPHA:307804
Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
Synonyms: Autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature | Autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature |
| fr | Maladie autosomique récessive avec kératodermie palmoplantaire diffuse comme manifestation majeure | Maladie autosomique récessive avec hyperkératose palmoplantaire diffuse comme manifestation majeure |
| de | Autosomal-rezessive Krankheit mit diffuser Palmoplantarkeratose als Hauptmerkmal | Autosomal-rezessive Krankheit mit diffuser palmoplantarer Hyperkeratose als Hauptmerkmal |
| es | Enfermedad autosómica recesiva con queratodermia palmoplantar difusa como característica principal | Enfermedad autosómica recesiva con hiperqueratosis palmoplantar difusa como característica principal |
| it | Malattia autosomica recessiva con cheratoderma palmoplantare diffuso come segno cardinale | Malattia autosomica recessiva con ipercheratosi palmoplantare diffusa come segno cardinale |
| nl | Autosomaal recessieve ziekte met diffuse palmoplantaire keratodermie als hoofdkenmerk | Autosomaal recessieve ziekte met diffuse palmoplantaire hyperkeratose als hoofdkenmerk |
| pt | Doença autossómica recessiva com queratodermia palmoplantar difusa como característica principal | Doença autossómica recessiva com hiperqueratose palmoplantar difusa como característica principal |
| pl | Choroba autosomalna recesywna z rozlanym rogowcem dłoniowo-podeszwowym jako objawem głównym | Choroba autosomalna recesywna z rozlaną hiperkeratozą dłoniowo-podeszwową jako objawem głównym |
| cs | Autozomálně recesivní onemocnění s difuzní plantární keratodermou jako hlavním příznakem | Autozomálně recesivní onemocnění s palmoplantární hyperkeratózou jako hlavním příznakem |
| uk | Аутосомно-рецесивне захворювання з дифузною долонно-підошовною кератодермією як основною ознакою | Аутосомно-рецесивне захворювання з дифузним долонно-підошовним гіперкератозом як основною ознакою |
| zh | 弥漫性掌跖角化症为主要特征常染色体隐性遗传病 | 弥漫性掌跖角化症为为主要特征常染色体隐性遗传病 |
| tr | Esas klinik özelliği yaygın palmoplantar keratoderma olan otozomal resesif hastalık | Esas klinik özelliği yaygın palmoplantar hiperkeratoz olan otozomal çekinik hastalık |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 17671 | E | validated | |
| UMLS | C5679960 | 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 (1):
- ORPHA:307711Disease with diffuse palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin diseases
Children (12):
- ORPHA:1366Autosomal recessive palmoplantar keratoderma and congenital alopecia
- ORPHA:66631CEDNIK syndrome
- ORPHA:2342Haim-Munk syndrome
- ORPHA:363523Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
- ORPHA:477KID syndrome
- ORPHA:34217Naxos disease
- ORPHA:2721Odonto-onycho-dermal dysplasia
- ORPHA:85112Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
- ORPHA:678Papillon-Lefèvre syndrome
- ORPHA:447961Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
- ORPHA:50944Schöpf-Schulz-Passarge syndrome
- ORPHA:293165Skin fragility-woolly hair-palmoplantar keratoderma syndrome
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Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/307804
- This record as JSON: /data/d/307804.json