ORPHA:140966
Palmoplantar keratoderma, Nagashima type
Synonyms: PPK, Nagashima type · Palmoplantar hyperkeratosis, Nagashima type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Palmoplantar keratoderma, Nagashima type | PPK, Nagashima type · Palmoplantar hyperkeratosis, Nagashima type |
| fr | Kératodermie palmoplantaire type Nagashima | Hyperkératose palmoplantaire type Nagashima · KPP type Nagashima · PPK type Nagashima |
| de | Palmoplantarkeratose Typ Nagashima | PPK, Nagashima-Typ |
| es | Queratodermia palmoplantar tipo Nagashima | Hiperqueratosis palmoplantar tipo Nagashima · PPK tipo Nagashima |
| it | Cheratoderma palmoplantare, tipo Nagashima | Ipercheratosi palmoplantare, tipo Nagashima · PPK, tipo Nagashima |
| nl | Palmoplantaire keratodermie, Nagashima-type | PPK, Nagashima-type · Palmoplantaire hyperkeratose, Nagashima-type |
| pt | Queratodermia palmoplantar, tipo Nagashima | Hiperqueratose tipo Nagashima |
| pl | Rogowiec dłoniowo-podeszwowy, typ Nagashima | Hiperkeratoza dłoniowo-podeszwowa, typ Nagashima · PPK, typ Nagashima |
| cs | Palmoplantární keratoderma, Nagashimův typ | PPK, Nagashimův typ · Palmoplantární hyperkeratóza, Nagashimův typ |
| uk | Долонно-підошовна кератодермія, тип Нагасіма | Долонно-підошовний гіперкератоз, тип Нагасіма · PPK, тип Nagashima |
| zh | Nagashima 型掌跖角化症 | 掌跖过度角化症Nagashima 型 |
| tr | Palmoplantar keratoderma, Nagashima türü | PPK, Nagashima tipi · Palmoplantar hiperkeratoz, Nagashima tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615598 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.30 | NTBT | index | validated |
| MONDO | 0014272 | E | validated | |
| UMLS | C3810072 | 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:98356Autosomal recessive isolated diffuse palmoplantar keratoderma
rare genetic diseases; rare skin diseases - ORPHA:250811Serpinopathy with loss of serpin function
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SERPINB7 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:13902 | ENSG00000166396 | 603357 | 18q21.33 | serpin family B member 7 | 24207119[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | 27666198[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27666198[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
2 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000975 | Hyperhidrosis | |
| HP:0000982 | Palmoplantar keratoderma | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 18347294[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/140966
- This record as JSON: /data/d/140966.json