ORPHA:1366
Autosomal recessive palmoplantar keratoderma and congenital alopecia
Synonyms: Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia · Cataract-alopecia-sclerodactyly syndrome · PPK-CA, Wallis type · Palmoplantar keratoderma and congenital alopecia, Wallis type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive palmoplantar keratoderma and congenital alopecia | Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia · Cataract-alopecia-sclerodactyly syndrome · PPK-CA, Wallis type · Palmoplantar keratoderma and congenital alopecia, Wallis type |
| fr | Kératodermie palmoplantaire et alopécie congénitale autosomique récessive | Hyperkératose palmoplantaire et alopécie congénitale autosomique récessive · KPP-AC type Wallis · Kératodermie palmoplantaire et alopécie congénitale type Wallis · PPK-CA type Wallis · Syndrome de cataracte-alopécie-sclérodactylie |
| de | Palmoplantarkeratose - kongenitale Alopezie, autosomal-rezessiv | Katarakt - Alopezie - Sklerodaktylie · PPK-CA Typ Wallis · Palmoplantarkeratose - kongenitale Alopezie, Typ Wallis |
| es | Queratodermia palmoplantar autosómica recesiva y alopecia congénita | Catarata-alopecia-esclerodactilia · Hiperqueratosis palmoplantar autosómica recesiva y alopecia congénita · PPK-CA tipo Wallis · Queratodermia palmoplantar y alopecia congénita tipo Wallis |
| it | Alopecia congenita e cheratoderma palmoplantare autosomico recessivo | Alopecia congenita e ipercheratosi palmoplantare autosomica recessiva · Cataratta - alopecia - sclerodattilia · Cheratoderma palmoplantare e alopecia congenita, tipo Wallis · PPK-CA, tipo Wallis |
| nl | Autosomaal recessieve palmoplantaire keratodermie en congenitale alopecie | Autosomaal recessieve hyperkeratose van handpalm of voetzool en congenitale alopecie · Autosomaal recessieve keratodermie van handpalm of voetzool en congenitale alopecie · Autosomaal recessieve palmoplantaire hyperkeratose en congenitale alopecie · Cataract - alopecie - sclerodactylie-syndroom · PPK-CA, Wallis-type · Palmoplantaire keratodermie en congenitale alopecie, Wallis-type |
| pt | Queratodermia palmoplantar autossómica recessiva e alopecia congénita | Síndrome de catarata-alopecia-esclerodactilia |
| pl | Autosomalny recesywny rogowiec dłoni i stóp z łysieniem wrodzonym | Autosomalna recesywna hiperkeratoza dłoni i stóp z łysieniem wrodzonym · PPK-CA, typ Wallisa · Rogowiec dłoni i stóp z łysieniem wrodzonym, typ Wallisa · Zaćma - łysienie - sklerodaktylia |
| cs | Autozomálně recesivní palmoplantární keratoderma a vrozená alopecie | Syndrom zahrnující kataraktu, alopecii a sklerodaktylii · Autozomálně recesivní palmoplantární hyperkeratóza a vrozená alopecie · PPK-CA, Wallisův typ · Palmoplantární keratoderma a vrozená alopecie, Wallisův typ |
| uk | Аутосомно-рецесивна долонно-підошовна кератодермія та вроджена алопеція | Аутосомно-рецесивний долонно-підошовний гіперкератоз і вроджена алопеція · Синдром катаракти-алопеції-склеродактилії · Долонно-підошовна кератодермія та вроджена алопеція за типом Уолліса · PPK-CA, тип Уолліса |
| zh | 常染色体隐性遗传掌跖角化病与先天性脱发 | 常染色体隐性遗传掌跖角化病与先天性脱发 |
| tr | Otozomal resesif palmoplantar keratoderma ve doğumsal alopesi | PPK-CA, Wallis tipi · Katarakt-alopesi-sklerodaktili sendromu · Palmoplantar keratoderma ve Doğumsal alopesi, Wallis tipi · Otozomal Çekinik palmoplantar hiperkeratoz ve Doğumsal alopesi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 212360 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-10 | Q84.0 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0008923 | E | validated | |
| MeSH | C535336 | E | validated | |
| UMLS | C1859316 | E | validated | |
| GARD | 1139 | 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 (4):
- ORPHA:307804Autosomal recessive 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 - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LSS | Disease-causing germline mutation(s) in | Assessed | HGNC:6708 | ENSG00000160285 | 600909 | 21q22.3 | lanosterol synthase | 35413293[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007418 | Alopecia totalis | |
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0000987 | Atypical scarring of skin | |
| HP:0000518 | Cataract | |
| HP:0001387 | Joint stiffness | |
| HP:0100679 | Lack of skin elasticity | |
| HP:0008404 | Nail dystrophy | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0001482 | Subcutaneous nodule | |
| HP:0000505 | Visual impairment | |
Run the differential on the 10 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1366
- This record as JSON: /data/d/1366.json