Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
18 signs/symptoms
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Pyogenic arthritis - pyoderma gangrenosum - acne

DNM2 PSTPIP1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DNM2
(0.78)
PSTPIP1



Citations in the biomedical literature:


Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
DNM2
Pyogenic arthritis - pyoderma gangrenosum - acne
PSTPIP1



Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Pyogenic arthritis - pyoderma gangrenosum - acne

Synonym(s):
- CMTDIB

Synonym(s):
- FRA
- Familial recurrent arthritis
- PAPA syndrome

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)

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

Pyogenic arthritis - pyoderma gangrenosum - acne

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

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

Occasional
- 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


Autosomal dominant intermediate Charcot-Marie-Tooth disease type B

(no data available)