ORPHA:289478
PASH syndrome
Synonyms: Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- No data available
- Age of onset
- Adult
- Status
- active
A rare skin disease belonging to the spectrum of autoinflammatory syndromes characterized by the triad of pyoderma gangrenosum (PG), suppurative hidradenitis (SH) and acne.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PASH syndrome | Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome |
| fr | Syndrome de pyoderma gangrenosum-acne-hidradénite suppurée | |
| de | PASH-Syndrom | Pyoderma gangraenosum-Akne-Hidradenitis suppurativa-Syndrom |
| es | Síndrome PASH | Síndrome de pioderma gangrenoso-acné-hidradenitis supurativa |
| it | Sindrome PASH | Sindrome da pioderma gangrenoso-acne-idrosadenite suppurativa |
| nl | PASH-syndroom | Pyoderma gangrenosum - acne - hidradenitis suppurativa-syndroom |
| pt | Síndrome PASH | Síndrome de pioderma gangrenoso-acne-hidradenite supurativa |
| pl | Piodermia zgorzelinowa - trądzik - ropnie mnogie pach | Zespół PASH |
| cs | Syndrom zahrnující pyoderma gangrenosum, akné a hidradenitis suppurativa | PASH syndrom |
| uk | PASH-синдром | Синдром гангренозної піодермії-акне-супресивного гідраденіту |
| zh | 坏疽脓皮病-痤疮-化脓性汗腺炎综合征 | 坏疽脓皮病-痤疮-化脓性汗腺炎综合征 |
| tr | Piyoderma gangrenozum-akne-süpüratif hidradenit sendromu | PASH sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D89.8 | NTBT | attributed | validated |
| ICD-11 | 4A60.Y | NTBT | attributed | validated |
| MONDO | 0017332 | E | validated | |
| UMLS | C5191642 | E | validated | |
| MedDRA | 10084535 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:653434Autoinflammatory syndrome with acne and/or hidradenitis suppurativa
rare skin diseases; rare systemic and rheumatological diseases - ORPHA:652510Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NCSTN | Disease-causing germline mutation(s) in | Assessed | HGNC:17091 | ENSG00000162736 | 605254 | 1q23.2 | nicastrin | 25601011[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28696038[PMID] |
| Cases/families | 36 cases | Worldwide | Case(s) | Validated | 28696038[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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/289478
- This record as JSON: /data/d/289478.json