ORPHA:263548
Peeling skin syndrome type A
Synonyms: Generalized peeling skin syndrome type A · Non-inflammatory generalized peeling skin syndrome type A. · Non-inflammatory peeling skin syndrome type A · PSS type A
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A noninflammatory form of generalized PSS characterized by white scaling and superficial painless peeling of the skin.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Peeling skin syndrome type A | Generalized peeling skin syndrome type A · Non-inflammatory generalized peeling skin syndrome type A. · Non-inflammatory peeling skin syndrome type A · PSS type A |
| fr | Peeling skin syndrome type A | PSS type A · Peeling skin syndrome généralisé non inflammatoire type A · Peeling skin syndrome généralisé type A · Peeling skin syndrome non inflammatoire type A |
| de | Peeling-Skin-Syndrom Typ A | PSS Typ A · Peeling-Skin-Syndrom Typ A, nicht-inflammatorisches · Peeling-Skin-Syndrom, generalisiertes, Typ A |
| es | Síndrome de descamación cutánea tipo A | PSS tipo A · Síndrome no inflamatorio de descamación de la piel tipo A · Síndrome no inflamatorio de descamación generalizada de la piel tipo A |
| it | Sindrome da desquamazione cutanea tipo A | PSS tipo A · PSS, tipo A · Pelle deciduale generalizzata, tipo A · Sindrome da desquamazione cutanea generalizzata tipo A · Sindrome da desquamazione cutanea generalizzata, tipo A · Sindrome non infiammatoria da desquamazione cutanea tipo A · Sindrome non infiammatoria da desquamazione cutanea, tipo A |
| nl | 'Peeling skin'-syndroom type A | Gegeneraliseerde 'peeling skin'-syndroom type A · Niet-inflammatoire 'peeling skin'-syndroom type A · Niet-inflammatoire gegeneraliseerde 'peeling skin'-syndroom type A · PSS type A |
| pt | Síndrome de pele descamativa tipo A | PSS tipo A · Síndrome de pele descamativa generalizada tipo A · Síndrome de pele descamativa não-inflamatória generalizada tipo A · Síndrome de pele descamativa não-inflamatória tipo A |
| pl | Uogólniony zespół złuszczania się skóry typu A | Zespół złuszczania skóry typu A |
| cs | Syndrom loupající se kůže, typ A | PSS typ A · Generalizovaná opadavá kůže, typ A · Generalizovaný syndrom loupající se kůže, typ A · Nezánětlivý generalizovaný syndrom loupající se kůže, typ A · Nezánětlivý syndrom loupající se kůže, typ A |
| uk | Синдром лущення шкіри, тип А | Синдром генералізованого лущення шкіри типу А · Незапальний синдром генералізованого лущення шкіри типу А. · Синдром незапального лущення шкіри типу А · PSS тип A |
| zh | 皮肤剥脱综合征A型 | 非炎性广泛性皮肤剥脱综合征A.型 |
| tr | Peeling cilt sendromu tip A | PSS tip A · Jeneralize deri dökülmesi tip A · Jeneralize cilt soyulması sendromu tip A · İnflamatuar olmayan cilt soyulması sendromu tip A · İnflamatuar olmayan jeneralize cilt soyulması sendromu tip A. |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616265 | BTNT | validated | |
| OMIM | 617115 | BTNT | validated | |
| OMIM | 618084 | BTNT | validated | |
| ICD-10 | Q80.8 | NTBT | attributed | validated |
| ICD-11 | EC20.1 | NTBT | index | validated |
| MONDO | 0014555 | E | validated | |
| UMLS | C5679692 | 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:263543Generalized peeling skin syndrome
rare genetic diseases; rare skin diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CHST8 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:15993 | ENSG00000124302 | 610190 | 19q13.11 | carbohydrate sulfotransferase 8 | 22289416[PMID] |
| FLG2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:33276 | ENSG00000143520 | 616284 | 1q21.3 | filaggrin 2 | 28884927[PMID] |
| SERPINB8 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8952 | ENSG00000166401 | 601697 | 18q22.1 | serpin family B member 8 | 27476651[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 families | Worldwide | Family(ies) | 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
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/263548
- This record as JSON: /data/d/263548.json