ET
MCID: ESS003
MIFTS: 69

Essential Thrombocythemia (ET)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Essential Thrombocythemia

MalaCards integrated aliases for Essential Thrombocythemia:

Name: Essential Thrombocythemia 12 75 53 25 59 29 6 15 17
Essential Thrombocytosis 53 25 59 37
Hemorrhagic Thrombocythemia 12 53
Hereditary Thrombocythemia 12 59
Thrombocythemia, Essential 44 72
Familial Thrombocytosis 12 59
Primary Thrombocythemia 53 25
Primary Thrombocytosis 12 25
Essential Thrombocythaemia 12
Idiopathic Thrombocythemia 53
Thrombocythemia Essential 55
Familial Thrombocythemia 59
Et 59

Characteristics:

Orphanet epidemiological data:

59
essential thrombocythemia
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-5/10000 (United States),1-5/10000 (Sweden); Age of onset: All ages; Age of death: normal life expectancy;
familial thrombocytosis
Inheritance: Autosomal dominant,X-linked recessive; Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:2224
KEGG 37 H01612
ICD9CM 35 238.71
MeSH 44 D013920
NCIt 50 C3407
SNOMED-CT 68 65471002
ICD10 33 D47.3
MESH via Orphanet 45 D013920
ICD10 via Orphanet 34 D47.3 D75.2
UMLS via Orphanet 73 C0040028
UMLS 72 C0040028

Summaries for Essential Thrombocythemia

NIH Rare Diseases : 53 Essential thrombocythemia belongs to a group of diseases called myeloproliferative neoplasms, which cause the bone marrow to make too many platelets, white blood cells and/or red blood cells. In essential thrombocythemia, the body produces too many platelets. The signs and symptoms vary from person to person, but most people with essential thrombocythemia do not have any symptoms when the platelet cell count first increases. Signs and symptoms that develop as the disease progresses include: increased production of megakaryocytes (a type of cell in the bone marrow that is responsible for making platelets); enlargement of the spleen (splenomegaly); and bleeding in several parts of the body and/or clotting episodes such as strokes, pain in the legs and difficulty breathing. Other symptoms may include weakness, headaches, or a burning, tingling or prickling sensation in the skin. Some people have episodes of severe pain, redness, and swelling (especially in the hands and feet). Essential thrombocythemia may be caused by a person acquiring (not inheriting) a somatic mutation in any of several genes, such as the JAK2 gene (most frequently), CALR gene, and rarely, the MPL, THPO, or TET2 gene. The reason why some people acquire mutations that cause the disease is unknown. Treatment may include low-dose aspirin, hydroxyurea, anagrelide, and/or interferon-alpha. Most people with the disease can live long lives. In very rare cases, essential thrombocythemia can transform into either primary myelofibrosis or acute myeloid leukemia.

MalaCards based summary : Essential Thrombocythemia, also known as essential thrombocytosis, is related to thrombocythemia 1 and myeloproliferative neoplasm. An important gene associated with Essential Thrombocythemia is CALR (Calreticulin), and among its related pathways/superpathways are Innate Immune System and PEDF Induced Signaling. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include bone, myeloid and bone marrow, and related phenotypes are myocardial infarction and abnormal bleeding

Disease Ontology : 12 A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results in the overproduction of platelets.

Genetics Home Reference : 25 Essential thrombocythemia is a condition characterized by an increased number of platelets (thrombocythemia). Platelets (thrombocytes) are blood cell fragments involved in blood clotting. While some people with this condition have no symptoms, others develop problems associated with the excess platelets. Abnormal blood clotting (thrombosis) is common in people with essential thrombocythemia and causes many signs and symptoms of this condition. Clots that block blood flow to the brain can cause strokes or temporary stroke-like episodes known as transient ischemic attacks. Thrombosis in the legs can cause leg pain, swelling, or both. In addition, clots can travel to the lungs (pulmonary embolism), blocking blood flow in the lungs and causing chest pain and difficulty breathing (dyspnea). Another problem in essential thrombocythemia is abnormal bleeding, which occurs more often in people with a very high number of platelets. Affected people may have nosebleeds, bleeding gums, or bleeding in the gastrointestinal tract. It is thought that bleeding occurs because a specific protein in the blood that helps with clotting is reduced, although why the protein is reduced is unclear. Other signs and symptoms of essential thrombocythemia include an enlarged spleen (splenomegaly); weakness; headaches; or a sensation in the skin of burning, tingling, or prickling. Some people with essential thrombocythemia have episodes of severe pain, redness, and swelling (erythromelalgia), which commonly occur in the hands and feet.

KEGG : 37
Essential thrombocythemia (ET) is one of the myeloproliferative neoplasms (MPNs), a group of clonal stem cell disorders with similarities at the phenotypic and molecular level. ET is characterized by an isolated thrombocytosis and overlaps clinically with polycythemia vera and primary myelofibrosis (PMF). The V617F mutation in the tyrosine pseudokinase region of the JAK2 gene is found in 50 - 60% of ET patients. This mutation produces an increased tyrosine kinase activity of JAK2, resulting in uncontrolled cellular growth in the hematopoietic compartment. Calreticulin (CALR) or myeloproliferative leukemia virus oncogene (MPL) mutations occur in approximately 25%, and 3% of ET patients, respectively.

Wikipedia : 75 Essential thrombocythemia (ET) is a rare chronic blood cancer (myeloproliferative neoplasm)... more...

Related Diseases for Essential Thrombocythemia

Diseases in the Essential Thrombocythemia family:

Thrombocythemia 1 Thrombocythemia 2
Thrombocythemia 3

Diseases related to Essential Thrombocythemia via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 402, show less)
# Related Disease Score Top Affiliating Genes
1 thrombocythemia 1 34.1 THPO SH2B3 MPL CALR
2 myeloproliferative neoplasm 33.2 TET2 STAT5B SH2B3 MPL JAK2 CALR
3 thrombocytosis 33.1 THPO TET2 SELP MPL JAK2 IL3
4 acquired von willebrand syndrome 32.9 VWF JAK2
5 thrombosis 32.1 VWF THBD SELP PF4 JAK2
6 erythromelalgia 32.1 THBD PPBP PF4
7 splenomegaly 32.1 MPL JAK2 IFNA2 EPO
8 polycythemia 32.0 THPO TET2 MPL JAK2 IL3 EPO
9 polycythemia vera 32.0 THPO THBD TET2 SELP PF4 MPL
10 platelet aggregation, spontaneous 31.6 VWF SELP PF4
11 portal hypertension 31.6 VWF THPO JAK2
12 myeloid leukemia 31.5 TP53 TET2 JAK2 IL3 ABL1
13 purpura 31.4 VWF THPO THBD MPL
14 stroke, ischemic 31.4 VWF THBD SELP PPBP PF4
15 myeloma, multiple 31.3 TP53 JAK2 IFNA1 EPO
16 thrombophilia due to activated protein c resistance 31.3 VWF THBD PF4
17 myocardial infarction 31.3 VWF THBD SELP PPBP PF4
18 peripheral vascular disease 31.2 VWF THBD SELP PPBP
19 neutropenia 31.2 IL3 IFNA2 IFNA1 CD177
20 vascular disease 31.2 VWF THBD SELP PPBP
21 refractory anemia 31.1 TET2 MPL JAK2 IL3 EPO
22 vasculitis 31.1 VWF THBD IFNA2
23 thrombocytopenic purpura, autoimmune 31.1 THPO SELP MPL IFNA2
24 chromosome 5q deletion syndrome 31.1 TET2 EPO
25 pancytopenia 31.1 THPO MPL IL3 EPO
26 thrombocytopenia due to platelet alloimmunization 31.0 THPO SELP MPL
27 mitral valve stenosis 31.0 SELP PPBP PF4
28 systemic mastocytosis 30.9 TET2 JAK2 IFNA2
29 thrombotic thrombocytopenic purpura 30.9 VWF THBD SELP
30 hypereosinophilic syndrome 30.9 IL3 IFNA1 ABL1
31 megakaryocytic leukemia 30.9 VWF TP53 THPO PF4 JAK2 IL3
32 acute erythroid leukemia 30.9 TP53 JAK2
33 hemorrhagic disease 30.9 VWF THPO THBD PPBP PF4 MPL
34 antiphospholipid syndrome 30.9 VWF THBD SELP
35 hairy cell leukemia 30.8 IL3 IFNA2 IFNA1
36 myelodysplastic syndrome 30.8 TP53 THPO TET2 MPL JAK2 IL3
37 blood platelet disease 30.8 VWF THPO SELP PF4 MPL JAK2
38 acquired polycythemia 30.7 JAK2 EPO
39 heart disease 30.5 VWF SELP PPBP PF4 ABL1
40 myelofibrosis 30.4 THPO TET2 STAT5B SH2B3 MPL MIR223
41 leukemia, acute myeloid 30.4 TP53 THPO TET2 STAT5B MPL MIR223
42 erythrocytosis, familial, 1 30.3 THPO STAT5B SH2B3 JAK2 IL3 EPO
43 aplastic anemia 30.2 TP53 THPO TET2 MPL IL3 EPO
44 acute promyelocytic leukemia 29.8 THBD STAT5B MIR223 IL3
45 leukemia, chronic myeloid 29.7 THPO STAT5B MPL MIR223 JAK2 IL3
46 obsolete: inherited predisposition to essential thrombocythemia 12.6
47 thrombocythemia with distal limb defects 11.3
48 subacute myeloid leukemia 10.9 TET2 JAK2
49 unilateral absence of a pulmonary artery 10.9 VWF THBD
50 thrombocytopenia 3 10.9 THPO MPL
51 thrombocytopenia-absent radius syndrome 10.8 THPO MPL JAK2 CALR
52 acute leukemia 10.8
53 lymphomatoid granulomatosis 10.8 IFNA2 IFNA1
54 squamous papillomatosis 10.8 IFNA2 IFNA1
55 grange syndrome 10.8 VWF THBD SELP
56 primary thrombocytopenia 10.8 VWF THPO SELP MPL
57 chronic leukemia 10.8 TET2 STAT5B JAK2
58 autoimmune disease of blood 10.8 VWF THPO SELP MPL
59 colloid adenoma 10.7 TP53 PPBP
60 folic acid deficiency anemia 10.7 THPO TET2 EPO
61 amegakaryocytic thrombocytopenia, congenital 10.7 THPO MPL IL3
62 thrombophilia due to thrombin defect 10.7
63 maxillary sinus squamous cell carcinoma 10.7 TP53 CALR
64 dyskeratosis congenita, autosomal dominant 6 10.7 THPO MPL
65 cellular neurofibroma 10.7 TP53 ABL1
66 behcet syndrome 10.6 THBD JAK2 IFNA2 IFNA1
67 atrial fibrillation 10.6 VWF SELP PPBP PF4
68 leukemia 10.6
69 retinitis pigmentosa and erythrocytic microcytosis 10.6 JAK2 IL3 EPO
70 conjunctival squamous cell carcinoma 10.6 TP53 IFNA2
71 hypertension, essential 10.6 VWF THBD SELP PPBP PF4
72 cryoglobulinemia, familial mixed 10.5 IFNA2 IFNA1
73 thrombocytopenia 10.5
74 acquired immunodeficiency syndrome 10.5 TP53 IFNA2 IFNA1 EPO
75 blood coagulation disease 10.5 VWF THPO THBD SELP PF4 MPL
76 lymphocytic leukemia 10.5
77 anemia of prematurity 10.5 STAT5B IL3 EPO
78 ischemia 10.4
79 cerebrovascular disease 10.4
80 thrombophilia 10.4
81 acute myocardial infarction 10.4
82 qualitative platelet defect 10.4 VWF SELP
83 deficiency anemia 10.4
84 budd-chiari syndrome 10.4
85 pulmonary embolism 10.4
86 leukemia, chronic lymphocytic 10.3
87 von willebrand's disease 10.3
88 iron metabolism disease 10.3
89 chromosomal triplication 10.3
90 leukemia, b-cell, chronic 10.3
91 diamond-blackfan anemia 10.3 TP53 THPO MPL IL3 EPO
92 hypercholesterolemia, familial, 1 10.3
93 coronary thrombosis 10.3
94 transient cerebral ischemia 10.3
95 heparin-induced thrombocytopenia 10.3
96 splenic infarction 10.3
97 myeloid sarcoma 10.3
98 atrial standstill 1 10.3
99 angina pectoris 10.3
100 intermediate coronary syndrome 10.3
101 endosteal hyperostosis, autosomal dominant 10.2
102 leukemia, acute lymphoblastic 10.2
103 sarcoma 10.2
104 portal vein thrombosis 10.2
105 iron deficiency anemia 10.2
106 spindle cell sarcoma 10.2
107 yemenite deaf-blind hypopigmentation syndrome 10.2
108 coronary heart disease 1 10.2
109 pulmonary hypertension 10.2
110 chronic myelomonocytic leukemia 10.2
111 allergic hypersensitivity disease 10.2
112 retinal vein occlusion 10.2
113 retinal vascular disease 10.2
114 thrombophlebitis 10.2
115 placental abruption 10.2
116 raynaud phenomenon 10.2
117 headache 10.2
118 lymphoma, hodgkin, classic 10.1
119 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
120 thrombocythemia 2 10.1
121 lymphoma, non-hodgkin, familial 10.1
122 exanthem 10.1
123 aphasia 10.1
124 lymphoma 10.1
125 cardiac arrest 10.1
126 ectopic pregnancy 10.1
127 pre-eclampsia 10.1
128 respiratory failure 10.1
129 hemopericardium 10.1
130 eclampsia 10.1
131 renovascular hypertension 10.1
132 central retinal vein occlusion 10.1
133 lipid metabolism disorder 10.1
134 intermittent claudication 10.1
135 coronary stenosis 10.1
136 peripheral nervous system disease 10.1
137 hemolytic anemia 10.1
138 hypersplenism 10.1
139 placenta disease 10.1
140 neuropathy 10.1
141 alopecia 10.1
142 47,xyy 10.1
143 cytokine deficiency 10.1
144 syncope 10.1
145 limb ischemia 10.1
146 malaria 10.0 VWF THBD SELP PF4 EPO
147 fibrosis of extraocular muscles, congenital, 1 10.0
148 renal cell carcinoma, nonpapillary 10.0
149 hypertriglyceridemia, familial 10.0
150 migraine with or without aura 1 10.0
151 neutrophilia, hereditary 10.0
152 sarcoidosis 1 10.0
153 varicose veins 10.0
154 gallbladder disease 1 10.0
155 homocysteinemia 10.0
156 thrombocythemia 3 10.0
157 chorea, childhood-onset, with psychomotor retardation 10.0
158 autosomal recessive disease 10.0
159 pain agnosia 10.0
160 hemiplegia 10.0
161 esophageal varix 10.0
162 cardiac tamponade 10.0
163 pericardial effusion 10.0
164 choreatic disease 10.0
165 branch retinal artery occlusion 10.0
166 central retinal artery occlusion 10.0
167 blue toe syndrome 10.0
168 skin carcinoma 10.0
169 mastocytosis 10.0
170 intracranial thrombosis 10.0
171 myelodysplastic/myeloproliferative neoplasm 10.0
172 retinal artery occlusion 10.0
173 sideroblastic anemia 10.0
174 priapism 10.0
175 carotid artery dissection 10.0
176 diabetes mellitus 10.0
177 48,xyyy 10.0
178 amaurosis fugax 10.0
179 aquagenic pruritus 10.0
180 broken heart syndrome 10.0
181 myelodysplastic syndrome with excess blasts 10.0
182 aneurysm 10.0
183 refractory anemia with excess blasts in transformation 10.0
184 hematologic cancer 10.0 TP53 THPO TET2 STAT5B MPL JAK2
185 primary polycythemia 10.0 TET2 MPL JAK2 IL3 EPO CD177
186 mastocytosis, cutaneous 10.0
187 arterial calcification, generalized, of infancy, 1 10.0
188 angiosarcoma 10.0
189 polyneuropathy 10.0
190 poems syndrome 10.0
191 endometriosis 10.0
192 lateral sinus thrombosis 10.0
193 plasmacytoma 10.0
194 primary cutaneous follicle center lymphoma 10.0
195 pseudopolycythaemia 10.0
196 pik3ca-related overgrowth syndrome 10.0
197 spondyloarthropathy 1 9.9
198 annular erythema 9.9
199 arteries, anomalies of 9.9
200 autoimmune disease 9.9
201 erythroleukemia, familial 9.9
202 factor viii deficiency 9.9
203 dowling-degos disease 1 9.9
204 rheumatoid arthritis 9.9
205 spondylolisthesis 9.9
206 storage pool platelet disease 9.9
207 temporal arteritis 9.9
208 triiodothyronine receptor auxiliary protein 9.9
209 down syndrome 9.9
210 alopecia universalis congenita 9.9
211 anemia, autoimmune hemolytic 9.9
212 iron-refractory iron deficiency anemia 9.9
213 lung cancer 9.9
214 netherton syndrome 9.9
215 hemophilia a 9.9
216 retinitis pigmentosa 11 9.9
217 acromelic frontonasal dysostosis 9.9
218 sickle cell anemia 9.9
219 meningioma, radiation-induced 9.9
220 meningioma, familial 9.9
221 mycobacterium tuberculosis 1 9.9
222 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
223 intraocular pressure quantitative trait locus 9.9
224 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 9.9
225 gastric cancer 9.9
226 graft-versus-host disease 9.9
227 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.9
228 aortic valve disease 2 9.9
229 striatal degeneration, autosomal dominant 2 9.9
230 hyperlipoproteinemia, type iii 9.9
231 gastrointestinal ulceration, recurrent, with dysfunctional platelets 9.9
232 inflammatory bowel disease 9.9
233 oculocutaneous albinism 9.9
234 anaplastic large cell lymphoma 9.9
235 diffuse large b-cell lymphoma 9.9
236 secondary progressive multiple sclerosis 9.9
237 peripheral artery disease 9.9
238 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 9.9
239 apraxia 9.9
240 lymphoblastic lymphoma 9.9
241 cerebral artery occlusion 9.9
242 optic papillitis 9.9
243 osteomyelitis 9.9
244 cholelithiasis 9.9
245 acute inferolateral myocardial infarction 9.9
246 gastric ulcer 9.9
247 disseminated intravascular coagulation 9.9
248 microcytic anemia 9.9
249 spinal meningioma 9.9
250 mitral valve insufficiency 9.9
251 patau syndrome 9.9
252 cortical blindness 9.9
253 nephrotic syndrome 9.9
254 coronary artery vasospasm 9.9
255 coronary artery anomaly 9.9
256 inflammatory spondylopathy 9.9
257 pulmonary alveolar proteinosis 9.9
258 pica disease 9.9
259 primary biliary cirrhosis 9.9
260 bronchopneumonia 9.9
261 dilated cardiomyopathy 9.9
262 focal segmental glomerulosclerosis 9.9
263 diarrhea 9.9
264 pure red-cell aplasia 9.9
265 pulmonary sarcoidosis 9.9
266 amenorrhea 9.9
267 urticaria 9.9
268 rheumatic disease 9.9
269 neovascular glaucoma 9.9
270 duodenal ulcer 9.9
271 pericarditis 9.9
272 status epilepticus 9.9
273 hyperuricemia 9.9
274 cholecystitis 9.9
275 hepatitis b 9.9
276 arteriosclerosis 9.9
277 macrocytic anemia 9.9
278 hemangioma 9.9
279 granulomatous angiitis 9.9
280 synovitis 9.9
281 idiopathic interstitial pneumonia 9.9
282 hemoglobin c disease 9.9
283 hemoglobinopathy 9.9
284 glomerulonephritis 9.9
285 acute kidney failure 9.9
286 gallbladder cancer 9.9
287 central nervous system lymphoma 9.9
288 sagittal sinus thrombosis 9.9
289 hermansky-pudlak syndrome 9.9
290 pulmonary fibrosis 9.9
291 gastritis 9.9
292 pyoderma 9.9
293 polyradiculoneuropathy 9.9
294 seminoma 9.9
295 rhinitis 9.9
296 secretory meningioma 9.9
297 lymphoplasmacyte-rich meningioma 9.9
298 sm-ahnmd 9.9
299 gerstmann syndrome 9.9
300 liver cirrhosis 9.9
301 aortitis 9.9
302 chronic inflammatory demyelinating polyradiculoneuropathy 9.9
303 infertility 9.9
304 pneumonia 9.9
305 kidney disease 9.9
306 anterolateral myocardial infarction 9.9
307 congestive heart failure 9.9
308 paraplegia 9.9
309 conjunctivitis 9.9
310 spondylitis 9.9
311 spinal stenosis 9.9
312 b-cell lymphoma 9.9
313 monoclonal gammopathy of uncertain significance 9.9
314 chronic kidney disease 9.9
315 hemarthrosis 9.9
316 carotid artery occlusion 9.9
317 appendicitis 9.9
318 ileus 9.9
319 arthritis 9.9
320 collagen disease 9.9
321 chronic fatigue syndrome 9.9
322 pyoderma gangrenosum 9.9
323 chronic intestinal vascular insufficiency 9.9
324 subacute delirium 9.9
325 intracranial hypertension 9.9
326 refractive error 9.9
327 miliary tuberculosis 9.9
328 albinism 9.9
329 factor v leiden thrombophilia 9.9
330 hemophilia 9.9
331 scn9a-related inherited erythromelalgia 9.9
332 acquired hemophilia 9.9
333 acquired hemophilia a 9.9
334 acute graft versus host disease 9.9
335 acute myeloblastic leukemia with maturation 9.9
336 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 9.9
337 acute panmyelosis with myelofibrosis 9.9
338 cardiac rupture 9.9
339 chronic thromboembolic pulmonary hypertension 9.9
340 cold agglutinin disease 9.9
341 granulocytopenia 9.9
342 plasmablastic lymphoma 9.9
343 primary biliary cholangitis 9.9
344 tetraploidy 9.9
345 trisomy 22 9.9
346 back pain 9.9
347 head injury 9.9
348 paraneoplastic syndromes 9.9
349 spinal cord infarction 9.9
350 posttransplant acute limbic encephalitis 9.9
351 rapidly involuting congenital hemangioma 9.9
352 partial deletion of the long arm of chromosome 11 9.9
353 trisomy 1q 9.9
354 alk-negative anaplastic large cell lymphoma 9.9
355 scorpion envenomation 9.9
356 hematopoietic stem cell transplantation 9.9
357 refractory cytopenia with multilineage dysplasia 9.9
358 rare tumor 9.9
359 glomerular disease 9.9
360 red cell aplasia 9.9
361 primary glomerular disease 9.9
362 fainting 9.9
363 multiple sclerosis 9.8
364 osteoporosis 9.8
365 anemia, hypochromic microcytic, with iron overload 1 9.8
366 factor xii deficiency 9.8
367 endometrial cancer 9.8
368 bone mineral density quantitative trait locus 8 9.8
369 bone mineral density quantitative trait locus 15 9.8
370 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
371 hypochromic microcytic anemia 9.8
372 ptosis 9.8
373 mucositis 9.8
374 sensorineural hearing loss 9.8
375 protein-losing enteropathy 9.8
376 acute cystitis 9.8
377 patent foramen ovale 9.8
378 iritis 9.8
379 cholesterol embolism 9.8
380 mononeuritis multiplex 9.8
381 optic nerve disease 9.8
382 gastroenteritis 9.8
383 mucinoses 9.8
384 plague 9.8
385 protein c deficiency 9.8
386 eosinophilic gastroenteritis 9.8
387 compartment syndrome 9.8
388 eosinophilic enteropathy 9.8
389 fibrillary glomerulonephritis 9.8
390 fibromuscular dysplasia 9.8
391 neurofibromatosis, type iv, of riccardi 9.8
392 immunoglobulin alpha deficiency 9.8
393 acromegaly 9.8
394 myelitis 9.8
395 pituitary adenoma 9.8
396 silent myocardial infarction 9.8
397 adenoma 9.8
398 celiac disease 1 9.8
399 central nervous system disease 9.8
400 nervous system disease 9.8
401 thrombocythemia, x-linked 9.7
402 bone marrow cancer 8.9 VWF THPO THBD TET2 STAT5B SELP

Graphical network of the top 20 diseases related to Essential Thrombocythemia:



Diseases related to Essential Thrombocythemia

Symptoms & Phenotypes for Essential Thrombocythemia

Human phenotypes related to Essential Thrombocythemia:

59 32 (showing 35, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myocardial infarction 59 32 hallmark (90%) Very frequent (99-80%) HP:0001658
2 abnormal bleeding 59 32 hallmark (90%) Very frequent (99-80%) HP:0001892
3 transient ischemic attack 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0002326
4 chest pain 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0100749
5 venous thrombosis 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004936
6 paresthesia 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0003401
7 amaurosis fugax 59 32 hallmark (90%) Very frequent (99-80%) HP:0100576
8 thrombocytosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001894
9 prolonged bleeding time 59 32 hallmark (90%) Very frequent (99-80%) HP:0003010
10 abnormal platelet morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0011875
11 arterial thrombosis 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004420
12 increased megakaryocyte count 59 32 hallmark (90%) Very frequent (99-80%) HP:0005513
13 hyperhidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000975
14 splenomegaly 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001744
15 pruritus 59 32 frequent (33%) Frequent (79-30%) HP:0000989
16 headache 59 32 frequent (33%) Frequent (79-30%) HP:0002315
17 peripheral arterial stenosis 32 frequent (33%) HP:0004950
18 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
19 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
20 pulmonary arterial hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0002092
21 myelodysplasia 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002863
22 acute myeloid leukemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0004808
23 weight loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0001824
24 visual field defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001123
25 vertigo 59 32 occasional (7.5%) Occasional (29-5%) HP:0002321
26 acute leukemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002488
27 chronic myelogenous leukemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0005506
28 syncope 59 32 occasional (7.5%) Occasional (29-5%) HP:0001279
29 spontaneous abortion 59 32 occasional (7.5%) Occasional (29-5%) HP:0005268
30 myelofibrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0011974
31 cerebral ischemia 59 Frequent (79-30%)
32 abnormality of the cerebral vasculature 59 Very frequent (99-80%)
33 abnormality of thrombocytes 59 Very frequent (99-80%)
34 abnormality of bone marrow cell morphology 59 Very frequent (99-80%)
35 occlusive vascular disease 59 Frequent (79-30%)

MGI Mouse Phenotypes related to Essential Thrombocythemia:

46 (showing 5, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.1 ABL1 CALR EPO JAK2 MPL SELP
2 hematopoietic system MP:0005397 10.1 ABL1 CD177 EPO JAK2 MPL PF4
3 homeostasis/metabolism MP:0005376 9.93 ABL1 CALR EPO JAK2 MPL PF4
4 immune system MP:0005387 9.77 ABL1 CD177 EPO JAK2 MPL SELP
5 liver/biliary system MP:0005370 9.23 ABL1 EPO JAK2 SELP STAT5B TET2

Drugs & Therapeutics for Essential Thrombocythemia

Drugs for Essential Thrombocythemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 235, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 4 1401-55-4
2
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
3
Lactitol Investigational Phase 4 585-86-4, 585-88-6 493591
4
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
5
Pomalidomide Approved Phase 3 19171-19-8
6
Guaifenesin Approved, Investigational, Vet_approved Phase 3 93-14-1 3516
7
Morphine Approved, Investigational Phase 3 57-27-2 5288826
8
Heparin Approved, Investigational Phase 3 9005-49-6 46507594 772
9
Dalteparin Approved Phase 3 9005-49-6
10
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
11
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
12
Caspofungin Approved Phase 3 179463-17-3, 162808-62-0 468682 2826718
13
Amphotericin B Approved, Investigational Phase 3 1397-89-3 14956 5280965
14
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
15
Anagrelide Approved Phase 2, Phase 3 68475-42-3 2182
16
Hydroxyurea Approved Phase 2, Phase 3 127-07-1 3657
17
Peginterferon alfa-2a Approved, Investigational Phase 3 198153-51-4 5360545
18
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
19
Peginterferon alfa-2b Approved Phase 3 99210-65-8, 215647-85-1
20
Carboplatin Approved Phase 2, Phase 3 41575-94-4 10339178 498142 38904
21
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
22
Thiotepa Approved, Investigational Phase 2, Phase 3 52-24-4 5453
23
Etoposide Approved Phase 2, Phase 3 33419-42-0 36462
24
Mercaptopurine Approved Phase 3 50-44-2 667490
25
Danazol Approved Phase 3 17230-88-5 28417
26
Melphalan Approved Phase 3 148-82-3 460612 4053
27
Cytarabine Approved, Experimental, Investigational Phase 3 147-94-4, 65-46-3 6253
28
St. John's Wort Approved, Investigational, Nutraceutical Phase 3 84082-80-4
29
Ginseng Approved, Investigational, Nutraceutical Phase 3 50647-08-0
30 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
31 Anesthetics, Dissociative Phase 3
32 Angiogenesis Inhibitors Phase 3
33 Angiogenesis Modulating Agents Phase 3
34 Analgesics Phase 3
35 Peripheral Nervous System Agents Phase 3
36 Hormones Phase 3
37 Neurotransmitter Agents Phase 3
38 Respiratory System Agents Phase 3
39 Cola Phase 3
40 Liver Extracts Phase 3
41 Psychotropic Drugs Phase 3
42 Tranquilizing Agents Phase 3
43 Central Nervous System Depressants Phase 3
44 Anti-Anxiety Agents Phase 3
45 Serotonin Antagonists Phase 3
46 Analgesics, Opioid Phase 3
47 Serotonin Agents Phase 3
48 Antipruritics Phase 3
49 Antipsychotic Agents Phase 3
50 Narcotics Phase 3
51 Chlorpheniramine, phenylpropanolamine drug combination Phase 3
52 Antitussive Agents Phase 3
53 Antiparasitic Agents Phase 3
54 Antiprotozoal Agents Phase 3
55 Heparin, Low-Molecular-Weight Phase 3
56 calcium heparin Phase 3
57 Excitatory Amino Acid Antagonists Phase 3
58 Excitatory Amino Acids Phase 3
59 Anesthetics, Intravenous Phase 3
60 Adjuvants, Anesthesia Phase 3
61 Anesthetics Phase 3
62 Anesthetics, General Phase 3
63 Liposomal amphotericin B Phase 3
64 Cyclooxygenase Inhibitors Phase 3
65 Analgesics, Non-Narcotic Phase 3
66 Anti-Inflammatory Agents, Non-Steroidal Phase 3
67 Antipyretics Phase 3
68 Fibrinolytic Agents Phase 2, Phase 3
69 Platelet Aggregation Inhibitors Phase 2, Phase 3
70 N-(cyanomethyl)-4-(2-((4-(4-morpholinyl)phenyl)amino)-4-pyrimidinyl)benzamide Phase 3
71 Interferon-alpha Phase 2, Phase 3
72 Androgens Phase 3
73 Interferon alpha-2 Phase 3
74 Alkylating Agents Phase 2, Phase 3
75 Antineoplastic Agents, Alkylating Phase 2, Phase 3
76 Antineoplastic Agents, Phytogenic Phase 2, Phase 3
77 Etoposide phosphate Phase 2, Phase 3
78 Antilymphocyte Serum Phase 2, Phase 3
79 Janus Kinase Inhibitors Phase 3
80 glucocorticoids Phase 3
81 interferons Phase 3
82
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
83
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
84
Panobinostat Approved, Investigational Phase 2 404950-80-7 6918837
85
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
86
Lenalidomide Approved Phase 2 191732-72-6 216326
87
Mirabegron Approved Phase 2 223673-61-8 9865528
88
Aldesleukin Approved Phase 1, Phase 2 85898-30-2, 110942-02-4
89
Idarubicin Approved Phase 2 58957-92-9 42890
90
Daunorubicin Approved Phase 2 20830-81-3 30323
91
Verapamil Approved Phase 2 52-53-9 2520
92
Sargramostim Approved, Investigational Phase 1, Phase 2 83869-56-1, 123774-72-1
93
Ifosfamide Approved Phase 1, Phase 2 3778-73-2 3690
94
Docetaxel Approved, Investigational Phase 1, Phase 2 114977-28-5 148124
95
Mechlorethamine Approved, Investigational Phase 1, Phase 2 51-75-2 4033
96
Phenytoin Approved, Vet_approved Phase 1, Phase 2 57-41-0 1775
97
Venetoclax Approved, Investigational Phase 1, Phase 2 1257044-40-8 49846579
98
Topotecan Approved, Investigational Phase 2 123948-87-8, 119413-54-6 60700
99
Pembrolizumab Approved Phase 2 1374853-91-4
100
Sirolimus Approved, Investigational Phase 2 53123-88-9 6436030 5284616 46835353
101
nivolumab Approved Phase 2 946414-94-4
102
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
103
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
104
Decitabine Approved, Investigational Phase 2 2353-33-5 451668
105
alemtuzumab Approved, Investigational Phase 2 216503-57-0
106
Levoleucovorin Approved, Investigational Phase 2 68538-85-2
107
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
108
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
109
Imetelstat Investigational Phase 2 868169-64-6
110
tipifarnib Investigational Phase 2 192185-72-1 159324
111 Pevonedistat Investigational Phase 1, Phase 2 905579-51-3
112
Veliparib Investigational Phase 2 912444-00-9 11960529
113
Navitoclax Investigational Phase 2 923564-51-6
114
Motesanib diphosphate Phase 2 850649-62-6 11450633
115 Vitamin B3 Phase 2
116 Nicotinic Acids Phase 2
117 Adrenergic Agonists Phase 2
118 Adrenergic beta-3 Receptor Agonists Phase 2
119 Adrenergic beta-Agonists Phase 2
120 Adrenergic Agents Phase 2
121 Anti-Asthmatic Agents Phase 2
122
Beclomethasone Phase 2 4419-39-0 20469
123 Anti-HIV Agents Phase 1, Phase 2
124 Interleukin-2 Phase 1, Phase 2
125 Antihypertensive Agents Phase 2
126 Veratrum Alkaloids Phase 2
127 Estrogens Phase 2
128 Estrogen Receptor Antagonists Phase 2
129 Estrogen Antagonists Phase 2
130 Thymoglobulin Phase 1, Phase 2
131 Anti-Arrhythmia Agents Phase 2
132 Vasodilator Agents Phase 2
133 calcium channel blockers Phase 2
134
Isophosphamide mustard Phase 1, Phase 2 0
135 Sodium Channel Blockers Phase 1, Phase 2
136 Diuretics, Potassium Sparing Phase 1, Phase 2
137 Cytochrome P-450 Enzyme Inducers Phase 1, Phase 2
138 Anticonvulsants Phase 1, Phase 2
139 Interleukin-4 Phase 1, Phase 2
140 polysaccharide-K Phase 1, Phase 2
141 Adjuvants, Immunologic Phase 2
142 topoisomerase I inhibitors Phase 2
143 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
144 Epoetin alfa Phase 2 113427-24-0
145 Immunoglobulin Fc Fragments Phase 2
146 ON 01910 Phase 2
147 Histone Deacetylase Inhibitors Phase 2
148 Givinostat hydrochloride Phase 2
149 Protein Kinase Inhibitors Phase 2
150 Antibodies Phase 2
151 Antibodies, Monoclonal Phase 2
152 Antineoplastic Agents, Immunological Phase 2
153 Immunoglobulins Phase 2
154 Anti-Inflammatory Agents Phase 2
155 Hormone Antagonists Phase 2
156 Antineoplastic Agents, Hormonal Phase 2
157 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
158 Antimetabolites Phase 2
159 Antimetabolites, Antineoplastic Phase 2
160 Imatinib Mesylate Phase 2 220127-57-1 123596
161 Vidarabine Phosphate Phase 2
162 Neuroprotective Agents Phase 2
163 Gastrointestinal Agents Phase 2
164 Autonomic Agents Phase 2
165
Amifostine Approved, Investigational Phase 1 20537-88-6 2141
166
Vorinostat Approved, Investigational Phase 1 149647-78-9 5311