Polycythemia vera

Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.



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Narrow down the case reports



Total: 502 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(61.3%)
17033265
Polycythemia as the first manifestation of Cushing's disease.
Gursoy A, Dogruk Unal A, Ayturk S, Karakus S, Nur Izol A, Bascil Tutuncu N, Guvener Demirag N.
J Endocrinol Invest. 2006;29(8):742-4.
Plethora Splenomegaly Increased red blood cell mass Elevated leukocyte alkaline phosphatase
POMC
Adult Differential Diagnosis Early Diagnosis Homo sapiens Male Polycythemia
2
(57.1%)
602927
Partial trisomy of the long arm of chromosome 1 in myelofibrosis and polycythemia vera.
Hsu LY, Pinchiaroli D, Gilbert HS, Wittman R, Hirschhorn K.
Am J Hematol. 1977;2(4):375-83.
Hepatosplenomegaly Splenomegaly Anemia Fever
Chromosomes, Human, 1-3 Females Homo sapiens Male Middle Aged Polycythemia Vera Primary Myelofibrosis Trisomy
3
(50.9%)
8827883
[A case of myelofibrosis that developed polycythemia vera following treatment with ranimustine and then acute myelogenous leukemia (M0)].
Harashima S, Okamura T, Umeno M, Takaki K.
Rinsho Ketsueki. 1996;37(8):713-8.
Hepatosplenomegaly Splenomegaly Anemia
ANPEP CD2 CD33 MPO
Antineoplastic Agents Chromosome Aberrations Disease Progression Fatal Outcome Females Homo sapiens Leukemia, Myelocytic, Acute Lymphocyte Activation Middle Aged Nitrosourea Compounds Polycythemia Primary Myelofibrosis
4
(50.0%)
9409109
Retinopathy secondary to anemia from myeloid metaplasia in polycythemia vera.
Blood AM, Lowenthal EA, Nowakowski RW.
J Am Optom Assoc. 1997;68(11):734-8.
Retinal hemorrhage Splenomegaly Anemia
Anemia Fatal Outcome Homo sapiens Male Middle Aged Polycythemia Vera Primary Myelofibrosis Retinal Hemorrhage Visual Acuity
5
(49.4%)
12683904
Hairy cell leukemia variant developing in a background of polycythemia vera.
Kelly NP, Alkan S, Nand S.
Arch Pathol Lab Med. 2003;127(4):e209-11.
Splenomegaly Erythroid hyperplasia
CD22 IL2RA ITGAE ITGAX
Biomarkers, Tumor Fatal Outcome Hairy Cell Leukemia Homo sapiens Male Polycythemia Vera
6
(48.9%)
22851873
Multiple esophageal variceal ruptures with massive ascites due to myelofibrosis-induced portal hypertension.
Tokai K, Miyatani H, Yoshida Y, Yamada S.
World J Gastroenterol. 2012;18(28):3770-4.
Portal hypertension Hepatosplenomegaly Anemia
Ascites Esophageal and Gastric Varices Fatal Outcome Gastrointestinal Hemorrhage Homo sapiens Liver Male Polycythemia Vera Portal Hypertension Primary Myelofibrosis Spleen
6
(48.9%)
17542341
Retroperitoneal hematoma compressing a single functioning kidney: an unusual cause of obstructive renal failure.
Monge M, Vaida I, Modeliar SS, Solanilla A, Airapetian N, Presne C, Makdassi R, Fournier A, Choukroun G.
Clin Nephrol. 2007;67(5):318-20.
Anemia Hepatomegaly
Anticoagulants Females Hematoma Homo sapiens Polycythemia Vera Renal Dialysis Retroperitoneal Space X-Ray Computed Tomography
8
(45.3%)
1820502
[T lymphoma of immature phenotype associated with polycythemia vera].
Kurchan A, Somoza N, Pascuccelli H, Mide S, Padros MR, Santiago J, Satz ML, Fainboim L.
Medicina (B Aires). 1991;51(2):151-4.
Splenomegaly Thrombocytosis Fever
CD1C CD7
Adult Antineoplastic Combined Chemotherapy Protocols Biopsy Blast Phase Gene Rearrangement Homo sapiens Male Polycythemia Vera T-Cell Lymphoma
9
(43.8%)
9590446
Essential thrombocythemia in a dog: case report and literature review.
Bass MC, Schultze AE.
J Am Anim Hosp Assoc. 1998;34(3):197-203.
Pallor Hemolytic anemia Spherocytosis
Anemia Animals Antisickling Agents Blood Cell Count Blood Platelets Canis familiaris Dog Diseases Glucocorticoids Hemoglobin Homo sapiens Male Thrombocytosis Time Factors
10
(42.4%)
8525344
[Pruritus--also a challenge in internal medicine].
Brunner W.
Schweiz Med Wochenschr. 1995;125(46):2244-50.
Diabetes mellitus Cholestasis Leukemia
Adult Cholangitis, Sclerosing Differential Diagnosis Females Hematological Disease Hodgkin Disease Homo sapiens Male Metabolic Diseases Middle Aged Polycythemia Vera Pruritus Uremia
        

Phenotype(s) retrieved from Orphanet

    Total: 28

HPO ID Term Frequency
HP:0000225 Gingival bleeding Very frequent (99-80%)
HP:0000360 Tinnitus Very frequent (99-80%)
HP:0000421 Epistaxis Very frequent (99-80%)
HP:0000822 Hypertension Very frequent (99-80%)
HP:0000978 Bruising susceptibility Very frequent (99-80%)
HP:0001681 Angina pectoris Very frequent (99-80%)
HP:0001744 Splenomegaly Very frequent (99-80%)
HP:0001824 Weight loss Very frequent (99-80%)
HP:0002027 Abdominal pain Very frequent (99-80%)
HP:0002240 Hepatomegaly Very frequent (99-80%)
HP:0002315 Headache Very frequent (99-80%)
HP:0002321 Vertigo Very frequent (99-80%)
HP:0002488 Acute leukemia Very frequent (99-80%)
HP:0002863 Myelodysplasia Very frequent (99-80%)
HP:0011974 Myelofibrosis Very frequent (99-80%)
HP:0002093 Respiratory insufficiency Frequent (79-30%)
HP:0002829 Arthralgia Frequent (79-30%)
HP:0012378 Fatigue Frequent (79-30%)
HP:0000989 Pruritus Occasional (29-5%)
HP:0001297 Stroke Occasional (29-5%)
HP:0001409 Portal hypertension Occasional (29-5%)
HP:0002204 Pulmonary embolism Occasional (29-5%)
HP:0002239 Gastrointestinal hemorrhage Occasional (29-5%)
HP:0002639 Budd-Chiari syndrome Occasional (29-5%)
HP:0004417 Intermittent claudication Occasional (29-5%)
HP:0004420 Arterial thrombosis Occasional (29-5%)
HP:0004936 Venous thrombosis Occasional (29-5%)
HP:0030242 Portal vein thrombosis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 167

HPO ID Term # of case reports
HP:0011974 Myelofibrosis 52
HP:0001909 Leukemia 37
HP:0001894 Thrombocytosis 15
HP:0002488 Acute leukemia 14
HP:0001658 Myocardial infarction 11
HP:0001744 Splenomegaly 11
HP:0001978 Extramedullary hematopoiesis 11
HP:0032147 Erythromelalgia 8
HP:0000989 Pruritus 6
HP:0003072 Hypercalcemia 6
HP:0004936 Venous thrombosis 6
HP:0030731 Carcinoma 6
HP:0000822 Hypertension 5
HP:0001873 Thrombocytopenia 5
HP:0001903 Anemia 5
HP:0002072 Chorea 5
HP:0002326 Transient ischemic attack 5
HP:0002664 Neoplasm 5
HP:0002140 Ischemic stroke 4
HP:0002176 Spinal cord compression 4
HP:0002863 Myelodysplasia 4
HP:0000093 Proteinuria 3
HP:0000097 Focal segmental glomerulosclerosis 3
HP:0000618 Blindness 3
HP:0000979 Purpura 3
HP:0001297 Stroke 3
HP:0001907 Thromboembolism 3
HP:0001945 Fever 3
HP:0001974 Leukocytosis 3
HP:0002204 Pulmonary embolism 3
HP:0004420 Arterial thrombosis 3
HP:0005523 Lymphoproliferative disorder 3
HP:0010550 Paraplegia 3
HP:0030242 Portal vein thrombosis 3
HP:0030247 Splanchnic vein thrombosis 3
HP:0100724 Hypercoagulability 3
HP:0000100 Nephrotic syndrome 2
HP:0000112 Nephropathy 2
HP:0000572 Visual loss 2
HP:0000602 Ophthalmoplegia 2
HP:0000969 Edema 2
HP:0001025 Urticaria 2
HP:0001138 Optic neuropathy 2
HP:0001394 Cirrhosis 2
HP:0001409 Portal hypertension 2
HP:0001541 Ascites 2
HP:0001635 Congestive heart failure 2
HP:0001943 Hypoglycemia 2
HP:0002027 Abdominal pain 2
HP:0002076 Migraine 2
HP:0002315 Headache 2
HP:0002615 Hypotension 2
HP:0005558 Chronic leukemia 2
HP:0008200 Primary hyperparathyroidism 2
HP:0009830 Peripheral neuropathy 2
HP:0012115 Hepatitis 2
HP:0100279 Ulcerative colitis 2
HP:0100758 Gangrene 2
HP:0100827 Lymphocytosis 2
HP:0000016 Urinary retention 1
HP:0000099 Glomerulonephritis 1
HP:0000138 Ovarian cyst 1
HP:0000520 Proptosis 1
HP:0000573 Retinal hemorrhage 1
HP:0000622 Blurred vision 1
HP:0000651 Diplopia 1
HP:0000790 Hematuria 1
HP:0000793 Membranoproliferative glomerulonephritis 1
HP:0000819 Diabetes mellitus 1
HP:0001050 Plethora 1
HP:0001085 Papilledema 1
HP:0001217 Clubbing 1
HP:0001271 Polyneuropathy 1
HP:0001337 Tremor 1
HP:0001370 Rheumatoid arthritis 1
HP:0001433 Hepatosplenomegaly 1
HP:0001507 Growth abnormality 1
HP:0001638 Cardiomyopathy 1
HP:0001647 Bicuspid aortic valve 1
HP:0001649 Tachycardia 1
HP:0001663 Ventricular fibrillation 1
HP:0001681 Angina pectoris 1
HP:0001695 Cardiac arrest 1
HP:0001733 Pancreatitis 1
HP:0001875 Neutropenia 1
HP:0001876 Pancytopenia 1
HP:0001878 Hemolytic anemia 1
HP:0001880 Eosinophilia 1
HP:0001898 Increased red blood cell mass 1
HP:0001920 Renal artery stenosis 1
HP:0001935 Microcytic anemia 1
HP:0001962 Palpitations 1
HP:0002015 Dysphagia 1
HP:0002070 Limb ataxia 1
HP:0002094 Dyspnea 1
HP:0002196 Myelopathy 1
HP:0002202 Pleural effusion 1
HP:0002240 Hepatomegaly 1
HP:0002249 Melena 1
HP:0002301 Hemiplegia 1
HP:0002385 Paraparesis 1
HP:0002527 Falls 1
HP:0002563 Constrictive pericarditis 1
HP:0002586 Peritonitis 1
HP:0002588 Duodenal ulcer 1
HP:0002625 Deep venous thrombosis 1
HP:0002637 Cerebral ischemia 1
HP:0002647 Aortic dissection 1
HP:0002666 Pheochromocytoma 1
HP:0002721 Immunodeficiency 1
HP:0002754 Osteomyelitis 1
HP:0002758 Osteoarthritis 1
HP:0002835 Aspiration 1
HP:0002860 Squamous cell carcinoma 1
HP:0002897 Parathyroid adenoma 1
HP:0003073 Hypoalbuminemia 1
HP:0003701 Proximal muscle weakness 1
HP:0003764 Nevus 1
HP:0004445 Elliptocytosis 1
HP:0004941 Extrahepatic portal hypertension 1
HP:0005110 Atrial fibrillation 1
HP:0005145 Coronary artery stenosis 1
HP:0005268 Spontaneous abortion 1
HP:0005305 Cerebral venous thrombosis 1
HP:0005526 Lymphoid leukemia 1
HP:0006772 Renal angiomyolipoma 1
HP:0008318 Elevated leukocyte alkaline phosphatase 1
HP:0011897 Neutrophilia 1
HP:0012125 Prostate cancer 1
HP:0012132 Erythroid hyperplasia 1
HP:0012151 Hemothorax 1
HP:0012224 Circulating immune complexes 1
HP:0012246 Oculomotor nerve palsy 1
HP:0012251 ST segment elevation 1
HP:0012324 Myeloid leukemia 1
HP:0012418 Hypoxemia 1
HP:0012490 Panniculitis 1
HP:0012593 Nephrotic range proteinuria 1
HP:0012636 Retinal vein occlusion 1
HP:0012819 Myocarditis 1
HP:0020041 Double elevator palsy 1
HP:0020059 Increased red blood cell count 1
HP:0025059 Splenic abscess 1
HP:0025095 Sneeze 1
HP:0025318 Ovarian carcinoma 1
HP:0025324 Arterial occlusion 1
HP:0025342 Central retinal artery occlusion 1
HP:0030243 Hepatic vein thrombosis 1
HP:0030828 Wheezing 1
HP:0030994 Pancreas divisum 1
HP:0031047 Paraproteinemia 1
HP:0031225 Intrapulmonary shunt 1
HP:0031226 Perinephric fluid collection 1
HP:0031501 Pelvic mass 1
HP:0031625 Pseudoaneurysm 1
HP:0031805 Intraretinal hemorrhage 1
HP:0031864 Bacteremia 1
HP:0032061 Hypereosinophilia 1
HP:0032160 Cryptococcal meningitis 1
HP:0040165 Periostitis 1
HP:0040197 Encephalomalacia 1
HP:0100570 Carcinoid tumor 1
HP:0100576 Amaurosis fugax 1
HP:0100644 Melanonychia 1
HP:0100727 Histiocytosis 1
HP:0100749 Chest pain 1
HP:0200123 Chronic hepatitis 1


Causative gene(s) retrieved from Orphanet

    Total: 3

Gene Symbol Gene Name Entrez Gene ID
JAK2 Janus kinase 2 3717
MPL MPL proto-oncogene, thrombopoietin receptor 4352
TET2 tet methylcytosine dioxygenase 2 54790