ORPHA:1010
Autosomal dominant palmoplantar keratoderma and congenital alopecia
Synonyms: Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia · PPK-CA, Stevanovic type · Palmoplantar keratoderma and congenital alopecia, Stevanovic type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant palmoplantar keratoderma and congenital alopecia | Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia · PPK-CA, Stevanovic type · Palmoplantar keratoderma and congenital alopecia, Stevanovic type |
| fr | Kératodermie palmoplantaire et alopécie congénitale autosomique dominante | Hyperkératose palmoplantaire et alopécie congénitale autosomique dominante · Hyperkératose palmoplantaire et alopécie congénitale type Stevanovic · KPP-AC type Stevanovic · Kératodermie palmoplantaire et alopécie congénitale type Stevanovic · PPK-CA type Stevanovic |
| de | Autosomal-dominante Palmoplantarkeratose und kongenitale Alopezie | PPK-CA Typ Stevanovic · PPKCA1 · Palmoplantarkeratose und kongenitale Alopezie Typ Stevanovic |
| es | Queratodermia palmoplantar autosómica dominante y alopecia congénita | Hiperqueratosis palmoplantar autosómica dominante y alopecia congénita · PPK-CA tipo Stevanovic · Queratodermia palmoplantar y alopecia congénita tipo Stevanovic |
| it | Alopecia congenita e cheratoderma palmoplantare autosomico dominante | Alopecia congenita e ipercheratosi palmoplantare autosomica dominante · Cheratoderma palmoplantare e alopecia congenita, tipo Stevanovic · PPK-CA, tipo Stevanovic |
| nl | Autosomaal dominante palmoplantaire keratodermie en congenitale alopecie | Palmoplantaire keratodermie en congenitale alopecie, Stevanovic-type · Autosomaal dominante palmoplantaire hyperkeratose en congenitale alopecie · PPK-CA, Stevanovic-type |
| pt | Queratodermia palmoplantar autossómica dominante e alopecia congénita | Alopecia congénita-queratodermia palmoplantar |
| pl | Autosomalny dominujący rogowiec dłoni i stóp z łysieniem wrodzonym | Autosomalna dominująca hiperkeratoza dłoni i stóp z łysieniem wrodzonym · Autosomalny dominujący rogowiec dłoni i stóp z łysieniem wrodzonym typu Stevanovica · PPK-CA, typu Stevanovica |
| cs | Autozomálně dominantní palmoplantární keratoderma a vrozená alopecie | Autozomálně dominantní palmoplantární hyperkeratóza a vrozená alopecie · PPKA-CA, Stevanovicův typ · Palmoplantární keratoderma a vrozená alopecie, Stevanovicův typ |
| uk | Аутосомно-домінантна долонно-підошовна кератодерма та вроджена алопеція | Аутосомно-домінантний долонно-підошовний гіперкератоз і вроджена алопеція · Долонно-підошовна кератодермія та вроджена алопеція за типом Стевановича · PPK-CA, тип Стеванович |
| zh | 常染色体显性遗传掌跖角化症伴先天性秃发 | 常染色体显性遗传掌跖角化症伴先天性秃发 |
| tr | Otozomal dominant palmoplantar keratoderma ve doğumsal alopesi | PPK-CA, Stevanovic tipi · Palmoplantar keratoderma ve Doğumsal alopesi, Stevanovic tipi · Otozomal dominant palmoplantar hiperkeratoz ve Doğumsal alopesi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 104100 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0007083 | E | validated | |
| UMLS | C4304669 | E | validated | |
| GARD | 604 | 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:98352Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin diseases - ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; 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 |
|---|---|---|---|---|---|---|---|---|
| GJA1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:4274 | ENSG00000152661 | 121014 | 6q22.31 | gap junction protein alpha 1 | 25168385[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
25 annotations · validated 2021-12-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001597 | Abnormal nail morphology | |
| HP:0008404 | Nail dystrophy | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0045075 | Sparse eyebrow | |
| HP:0000653 | Sparse eyelashes | |
| HP:0002209 | Sparse scalp hair | |
| Frequent (79-30%) | ||
| HP:0010491 | Digital constriction ring | |
| HP:0000958 | Dry skin | |
| HP:0012785 | Flexion contracture of finger | |
| HP:0004528 | Generalized hypotrichosis | |
| HP:0032152 | Keratosis pilaris | |
| HP:0001807 | Ridged nail | |
| HP:0011838 | Sclerodactyly | |
| Occasional (29-5%) | ||
| HP:0002223 | Absent eyebrow | |
| HP:0002298 | Absent hair | |
| HP:0001041 | Facial erythema | |
| HP:0002435 | Meningocele | |
| HP:0100018 | Nuclear cataract | |
| HP:0001058 | Poor wound healing | |
| HP:0040189 | Scaling skin | |
| HP:0031057 | Skin fissure | |
| HP:0009886 | Trichorrhexis nodosa | |
| HP:0009900 | Unilateral deafness | |
| Very rare (<4-1%) | ||
| HP:0000613 | Photophobia | |
| HP:0001250 | Seizure | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 27339777[PMID]_20635335[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1010
- This record as JSON: /data/d/1010.json