ORPHA:69126
PAPA syndrome
Synonyms: FRA · Familial recurrent arthritis · Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PAPA syndrome | FRA · Familial recurrent arthritis · Pyogenic arthritis-pyoderma gangrenosum-acne syndrome |
| fr | Syndrome PAPA | Arthrite récurrente familiale · Syndrome d'arthrite purulente-pyoderma gangrenosum-acné |
| de | PAPA-Syndrom | Arthritis, familiäre rekurrente · FRA · Pyogene Arthritis-Pyoderma gangraenosum-Akne-Syndrom |
| es | Síndrome PAPA | Artritis recurrente familiar · Síndrome de artritis piógena-pioderma gangrenosum-acné |
| it | Sindrome PAPA | Artrite ricorrente familiare · FRA · Sindrome artrite piogenica-pioderma gangrenoso-acne |
| nl | PAPA-syndroom | FRA · Familiale recidiverende artritis · Pyogene artritis - pyoderma gangrenosum - acne-syndroom |
| pt | Síndrome PAPA | Artrite recorrente familiar · FRA · Síndrome de artrite piogénica-pioderma gangrenoso-acne |
| pl | Ropne zapalenie stawów - piodermia zgorzelinowa - trądzik | FRA · Rodzinne nawracające zapalenie stawów · Zespół PAPA |
| cs | Syndrom zahrnující pyogenní artritidu, pyoderma gangrenosum a akné | FRA · Familiární rekurentní artritida · PAPA syndrom |
| uk | PAPA-синдром | Сімейний рецидивуючий артрит · FRA · Синдром піогенного артриту - гангренозної піодермії - акне |
| zh | 化脓性关节炎-坏疽性脓皮病-痤疮综合征 | 家族性复发性关节炎 |
| tr | Piyojenik artrit-piyoderma gangrenozum-akne sendromu | FRA · PAPA sendromu · Ailesel tekrarlayan artrit |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604416 | E | validated | |
| ICD-10 | D89.8 | NTBT | attributed | validated |
| ICD-11 | 4A60.Y | NTBT | index | validated |
| MONDO | 0011462 | E | validated | |
| MeSH | C536253 | E | validated | |
| UMLS | C1858361 | E | validated | |
| GARD | 9176 | E | validated | |
| MedDRA | 10072222 | 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 (3):
- 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 - ORPHA:324942Pyogenic autoinflammatory syndrome of childhood
rare systemic or rheumatologic diseases of childhood
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PSTPIP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9580 | ENSG00000140368 | 606347 | 15q24.3 | proline-serine-threonine phosphatase interacting protein 1 |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 53 cases | Worldwide | Case(s) | Validated | 10.1007/978-3-319-96929-9_4[DOI] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10.1007/978-3-319-96929-9_4[DOI] |
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
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001061 | Acne | |
| HP:0001369 | Arthritis | |
| HP:0012378 | Fatigue | |
| HP:0001945 | Fever | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0200039 | Pustule | |
| HP:0200042 | Skin ulcer | |
| Frequent (79-30%) | ||
| HP:0002829 | Arthralgia | |
| HP:0010702 | Increased circulating immunoglobulin concentration | |
| HP:0002716 | Lymphadenopathy | |
| Occasional (29-5%) | ||
| HP:0100280 | Crohn's disease | |
| HP:0012649 | Increased inflammatory response | |
| HP:0100614 | Myositis | |
| HP:0000093 | Proteinuria | |
| HP:0100651 | Type I diabetes mellitus | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 21532836[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/69126
- This record as JSON: /data/d/69126.json