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Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Primary familial polycythemia
1 OMIM reference -
1 associated gene
15 signs/symptoms
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Primary familial polycythemia

PLCG2
(UniProt - OMIM)
 EPOR
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PLCG2
(0.9)
EPOR


Citations in the biomedical literature:


Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
PLCG2
Primary familial polycythemia
EPOR



Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Primary familial polycythemia

Synonym(s):
- aPLAID
Synonym(s):
- Congenital erythrocytosis due to erythropoietin receptor mutation
- Congenital polycythemia due to erythropoietin receptor mutation
- Familial erythrocytosis
- PFCP
- Primary congenital erythrocytosis
- Primary familial and congenital polycythemia
Classification (Orphanet):
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Primary familial polycythemia

Very frequent
- Asthenia / fatigue / weakness
- Dizziness
- Epistaxis / nose bleeding
- Facial pain / cephalalgia / migraine
- Hemoglobinosis / hemoglobinopathy
- Red cell disorders
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Venous thrombosis / phlebitis / thrombophlebitis

Frequent
- Acute abdominal pain / colic
- Articular / joint pain / arthralgia
- Pruritus / itching

Occasional
- Apnea / sleep apnea
- Cough
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Transient cerebral ischemia / stroke


Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation

(no data available)