Pyogenic arthritis - pyoderma gangrenosum - acne

General Information (adopted from Orphanet):

Synonyms, Signs: PAPAS
FRA
papa syndrome
familial recurrent arthritis
Number of Symptoms 25
OrphanetNr: 69126
OMIM Id: 604416
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 34 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autoinflammatory syndrome with immune deficiency
 -Rare genetic disease
 -Rare immune disease
Autoinflammatory syndrome with skin involvement
 -Rare skin disease
Pyogenic autoinflammatory syndrome
 -Rare systemic or rheumatologic disease
Unclassified genetic skin disease
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000093) Proteinuria Occasional [Orphanet] 169 / 7739
2
 (HPO:0100651) Type I diabetes mellitus Occasional [Orphanet] 44 / 7739
3
 (HPO:0001369) Arthritis 44 / 7739
4
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
5
 (HPO:0005059) Arthralgia/arthritis Frequent [Orphanet] 141 / 7739
6
 (HPO:0100769) Synovitis Very frequent [Orphanet] 86 / 7739
7
 (HPO:0100838) Recurrent cutaneous abscess formation Occasional [Orphanet] 15 / 7739
8
 (HPO:0200039) Pustule Very frequent [Orphanet] 20 / 7739
9
 (HPO:0000999) Pyoderma 7 / 7739
10
 (HPO:0001061) Acne Very frequent [Orphanet] 33 / 7739
11
 (HPO:0200042) Skin ulcer Very frequent [Orphanet] 138 / 7739
12
 (HPO:0001876) Pancytopenia Occasional [Orphanet] 89 / 7739
13
 (HPO:0011227) Elevated C-reactive protein level Occasional [Orphanet] 55 / 7739
14
 (HPO:0001945) Fever Very frequent [Orphanet] 218 / 7739
15
 (HPO:0002716) Lymphadenopathy Frequent [Orphanet] 129 / 7739
16
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
17
 (HPO:0100614) Myositis Occasional [Orphanet] 21 / 7739
18
 (MedDRA:10037635) Pyoderma gangrenosum 1 / 7739
19
 (OMIM) Synovial tissue biopsy shows polymorphonuclear infiltrate without presence of immunoglobulin or complement deposits 1 / 7739
20
 (OMIM) Normocytic pancytopenia following sulfa use 1 / 7739
21
 (OMIM) Intermittent sterile, pauciarticular, peripheral erosive arthritis (elbow, knee, ankle) 1 / 7739
22
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
23
 (MedDRA:10023003) Irritable bowel syndrome 2 / 7739
24
 (OMIM) Severe cystic acne 1 / 7739
25
 (OMIM) Sterile abscesses at site of parenteral injection 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lindor et al. (1997) described a multigeneration family with transmission of an autosomal dominant disorder characterized by pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne. Ten affected family members manifested variable expression of pauciarticular, nonaxial, destructive, corticosteroid-responsive arthritis ...
Molecular genetics OMIM Wise et al. (2002) identified missense mutations in the PSTPIP1 gene (606347) gene in 2 reported families with this disorder. PSTPIP1 and its murine ortholog are adaptor proteins known to interact with PEST-type PTPs such as PTPN12 (600079). ...