ORPHA:370002
Focal palmoplantar keratoderma with joint keratoses
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, isolated palmoplantar keratoderma characterized by focal hyperkeratotic lesions affecting the pressure- and mechanical trauma-bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Focal palmoplantar keratoderma with joint keratoses | |
| fr | Kératodermie palmoplantaire focale avec kératose localisée aux articulations | |
| de | Fokale Palmoplantarkeratose mit Hyperkeratose an den Gelenken | |
| es | Queratodermia palmoplantar focal con queratosis en las articulaciones | |
| it | Cheratoderma palmoplantare focale con cheratosi articolare | |
| nl | Focale palmoplantaire keratodermie met keratosen van gewrichten | |
| pt | Queratodermia palmoplantar focal com queratoses articulares | |
| pl | Ogniskowy rogowiec dłoniowo-podeszwowy z keratozą stawów | |
| cs | Fokální palmoplantární keratoderma s kloubními keratózami | |
| uk | Фокальна долонно-підошовна кератодермія з суглобовими кератозами | |
| zh | 局灶性掌跖角化伴关节角化病 | |
| tr | Eklem keratoz ile seyreden fokal palmoplantar keratoderma |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 148700 | NTBT | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.31 | NTBT | attributed | validated |
| MONDO | 0018252 | E | validated | |
| UMLS | C4755302 | 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:307846Isolated focal palmoplantar keratoderma
rare genetic diseases; rare skin diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DSG1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3048 | ENSG00000134760 | 125670 | 18q12.1 | desmoglein 1 | 16484817[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 16484817[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/370002
- This record as JSON: /data/d/370002.json