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1 OMIM reference -
1 associated gene
18 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6
2 OMIM references -
1 associated gene
39 signs/symptoms
Pyogenic arthritis - pyoderma gangrenosum - acne
Familial Mediterranean fever

PSTPIP1 MEFV


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PSTPIP1
(0.65)
MEFV



Citations in the biomedical literature:


Pyogenic arthritis - pyoderma gangrenosum - acne
PSTPIP1
Familial Mediterranean fever
MEFV



Pyogenic arthritis - pyoderma gangrenosum - acne
Familial Mediterranean fever

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

Synonym(s):
- Benign paroxysmal peritonitis
- Benign recurrent polyserositis
- FMF
- Familial paroxysmal polyserositis
- Periodic disease

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D010505


COMMON
SIGNS
- Arthritis / synovitis / synovial proliferation
- Articular / joint pain / arthralgia
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Fever / chilling
- Lymphadenopathy / polyadenopathies
- Proteinuria


Pyogenic arthritis - pyoderma gangrenosum - acne
Familial Mediterranean fever

Very frequent
- Acne / acnea
- Asthenia / fatigue / weakness
- Autosomal dominant inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Pustula / pustulosis
- Restricted joint mobility / joint stiffness / ankylosis

Frequent
- Monoclonal immunoglobulins / gammapathy / dysglobulinemia

Occasional
- Bone marrow failure / pancytopenia
- Functional colopathy / irritable bowel syndrome
- Furuncle / cutaneous abscess / hidrosadenitis suppurativa
- Insulin-dependent / type 1 diabetes
- Myositis


Very frequent
- Acute abdominal pain / colic
- Autosomal recessive inheritance
- Constipation
- Myalgia / muscular pain
- Nausea / vomiting / regurgitation / merycism / hyperemesis

Frequent
- Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax
- Acute diarrhea
- Enanthema / aphtosa / aphta / leukoplakia
- Erysipela
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Seizures / epilepsy / absences / spasms / status epilepticus
- Thoracic / chest pain

Occasional
- Acute hepatic failure
- Acute ischemic syndrome
- Angor pectoris / myocardial infarction
- Ascitis
- Cardiac rhythm disorder / arrhythmia
- Cutaneous rash
- Edema of the legs / lower limbs
- Intestinal obstruction / ileus
- Malabsorption / chronic diarrhea / steatorrhea
- Meningitis / meningeal syndrome
- Mesenteric / intestinal infarction
- Motor deficit / trouble
- Nephrotic syndrome
- Osteoarthritis
- Pancreatitis
- Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion
- Renal disease / nephropathy
- Renal / kidney calcifications / nephrocalcinosis
- Splenomegaly
- Testes inflammation / orchitis
- Vascularitis / vasculitides / arteritis