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Pyogenic arthritis - pyoderma gangrenosum - acne
1 OMIM reference -
1 associated gene
30 connected diseases
18 signs/symptoms
Disease Type of connection
Wiskott-Aldrich syndrome
Blackfan-Diamond anemia
X-linked severe congenital neutropenia
X-linked thrombocytopenia with normal platelets
Autoimmune lymphoproliferative syndrome
Chronic myeloid leukemia
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Autosomal dominant centronuclear myopathy
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Hypotrichosis simplex
Behçet disease
Familial Mediterranean fever
Intermittent hydrarthrosis
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Idiopathic pulmonary fibrosis
Inflammatory myofibroblastic tumor
Keratosis palmoplantaris striata
Lethal acantholytic epidermolysis bullosa
Romano-Ward syndrome
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
- Familial recurrent arthritis
- PAPA syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare skin disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
PSTPIP1 O43586606347
Very frequent
- Acne / acnea
- Arthritis / synovitis / synovial proliferation
- Asthenia / fatigue / weakness
- Autosomal dominant inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Fever / chilling
- Pustula / pustulosis
- Restricted joint mobility / joint stiffness / ankylosis

- Articular / joint pain / arthralgia
- Lymphadenopathy / polyadenopathies
- Monoclonal immunoglobulins / gammapathy / dysglobulinemia

- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Bone marrow failure / pancytopenia
- Functional colopathy / irritable bowel syndrome
- Furuncle / cutaneous abscess / hidrosadenitis suppurativa
- Insulin-dependent / type 1 diabetes
- Myositis
- Proteinuria