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Primary familial polycythemia

1 OMIM reference -
1 associated gene
47 connected diseases
15 signs/symptoms

Disease	Type of connection
Distal 22q11.2 microdeletion syndrome
Juvenile myelomonocytic leukemia
Autosomal agammaglobulinemia
Budd-Chiari syndrome
Essential thrombocythemia
Familial thrombocytosis
Myelofibrosis with myeloid metaplasia
Polycythemia vera
SHORT syndrome
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
PLCG2-associated antibody deficiency and immune dysregulation
Acute promyelocytic leukemia
Laron syndrome with immunodeficiency
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
X-linked non-syndromic intellectual deficit
LEOPARD syndrome
Metachondromatosis
Noonan syndrome
Split hand-split foot malformation
Acute myeloblastic leukemia with maturation
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Aleukemic mast cell leukemia
Bullous diffuse cutaneous mastocytosis
Classic mast cell leukemia
Cutaneous mastocytoma
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Gastrointestinal stromal tumor
Isolated bone marrow mastocytosis
Lymphoadenopathic mastocytosis with eosinophilia
Nodular urticaria pigmentosa
Piebaldism
Plaque-form urticaria pigmentosa
Pseudoxanthomatous diffuse cutaneous mastocytosis
Smouldering systemic mastocytosis
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
T-B+ severe combined immunodeficiency due to CD45 deficiency
Telangiectasia macularis eruptiva perstans
Typical urticaria pigmentosa
Congenital pulmonary alveolar proteinosis
Familial progressive hyper- and hypopigmentation
Familial progressive hyperpigmentation
Testicular non seminomatous germ cell tumor
Testicular seminomatous germ cell tumor

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 genetic disease - Rare hematologic disease		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

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

Gene symbol	UniProt reference	OMIM reference
EPOR	P19235	133171

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