Polycythemia vera

General Information (adopted from Orphanet):

Synonyms, Signs: PRV
PV
Vaquez disease
polycythemia rubra vera
Erythremia
Osler-Vaquez disease
Acquired primary erythocytosis
Number of Symptoms 47
OrphanetNr: 729
OMIM Id: 263300
ICD-10: D45
UMLs: C0032463
MeSH: D011087
MedDRA: 10036057
Snomed: 109992005
128841001

Prevalence, inheritance and age of onset:

Prevalence: 30 of 100 000 [Orphanet]
Inheritance: Not applicable
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Myeloproliferative neoplasm
 -Rare hematologic disease
 -Rare oncologic disease
Polycythemia
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000421) Epistaxis Very frequent [Orphanet] 85 / 7739
2
 (HPO:0000225) Gingival bleeding Very frequent [Orphanet] 28 / 7739
3
 (HPO:0000360) Tinnitus Very frequent [Orphanet] 29 / 7739
4
 (HPO:0002141) Gait imbalance Very frequent [Orphanet] 55 / 7739
5
 (HPO:0002315) Headache Very frequent [Orphanet] 175 / 7739
6
 (HPO:0005059) Arthralgia/arthritis Frequent [Orphanet] 141 / 7739
7
 (HPO:0002027) Abdominal pain Very frequent [Orphanet] 184 / 7739
8
 (HPO:0002239) Gastrointestinal hemorrhage Very frequent [Orphanet] 97 / 7739
9
 (HPO:0001409) Portal hypertension Occasional [Orphanet] 39 / 7739
10
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
11
 (HPO:0001744) Splenomegaly Very frequent [Orphanet] 337 / 7739
12
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
13
 (HPO:0000978) Bruising susceptibility Very frequent [Orphanet] 123 / 7739
14
 (HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
15
 (HPO:0000989) Pruritus Occasional [Orphanet] 111 / 7739
16
 (HPO:0000822) Hypertension Very frequent [Orphanet] 224 / 7739
17
 (HPO:0001342) Cerebral hemorrhage 24 / 7739
18
 (HPO:0002140) Ischemic stroke Occasional [Orphanet] 70 / 7739
19
 (HPO:0001677) Coronary artery disease Very frequent [Orphanet] 58 / 7739
20
 (HPO:0002637) Cerebral ischemia 17 / 7739
21
 (HPO:0002639) Budd-Chiari syndrome 3 / 7739
22
 (HPO:0001907) Thromboembolism 15 / 7739
23
 (HPO:0001899) Increased hematocrit 6 / 7739
24
 (HPO:0001873) Thrombocytopenia 224 / 7739
25
 (HPO:0002863) Myelodysplasia Very frequent [Orphanet] 30 / 7739
26
 (HPO:0001898) Increased red blood cell mass 5 / 7739
27
 (HPO:0004420) Arterial thrombosis Occasional [Orphanet] 20 / 7739
28
 (HPO:0004936) Venous thrombosis Occasional [Orphanet] 41 / 7739
29
 (HPO:0001974) Leukocytosis 33 / 7739
30
 (HPO:0005513) Increased megakaryocyte count 1 / 7739
31
 (HPO:0002488) Acute leukemia Very frequent [Orphanet] 29 / 7739
32
 (HPO:0001900) Increased hemoglobin 7 / 7739
33
 (HPO:0001977) Abnormal thrombosis 11 / 7739
34
 (HPO:0001894) Thrombocytosis 16 / 7739
35
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
36
 (HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
37
 (OMIM) Increased PRV-1 (162860) mRNA 1 / 7739
38
 (OMIM) Normal arterial oxygen saturation 1 / 7739
39
 (HPO:0001428) Somatic mutation 100 / 7739
40
 (HPO:0030164) Jaw claudication Occasional [Orphanet] 2 / 7739
41
 (HPO:0003745) Sporadic 131 / 7739
42
 (OMIM) Myocardial ischemia 2 / 7739
43
 (OMIM) Erythroid colony-forming units show spontaneous growth in the absence of EPO 1 / 7739
44
 (OMIM) Normal or decreased serum erythropoietin (EPO, 133170) 1 / 7739
45
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
46
 (OMIM) Increased megakaryocyte precursor cells 1 / 7739
47
 (OMIM) Increased myeloid precursor cells 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Polycythemia vera, the most common form of primary polycythemia, is caused by somatic mutation in a single hematopoietic stem cell leading to clonal hematopoiesis. PV is a myeloproliferative disorder characterized predominantly by erythroid hyperplasia, but also by myeloid ...
Clinical Description OMIM Owen (1924) emphasized the familial nature of polycythemia vera and presented a possible example.

Modan (1965) suggested that in only 2 reports of familial PV was the diagnosis completely documented (Lawrence and Goetsch, 1950; Erf, 1956). ...
Molecular genetics OMIM Kralovics et al. (2003) studied 6 families with PV. The familial predisposition was consistent with autosomal dominant inheritance with incomplete penetrance. However, all affected individuals showed clonal hematopoiesis, suggesting an acquired somatic nature of the disorder. Kralovics et ...