Essential thrombocythemia

General Information (adopted from Orphanet):

Synonyms, Signs: ET
Essential thrombocytosis
Number of Symptoms 24
OrphanetNr: 3318
OMIM Id: 187950
601977
614521
ICD-10: D47.3
UMLs: C0040028
MeSH: D013920
MedDRA: 10015493
Snomed: 109994006
128844009

Prevalence, inheritance and age of onset:

Prevalence: 24 of 100 000 [Orphanet]
Inheritance: Multifactorial
Not applicable
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Myeloproliferative neoplasm
 -Rare hematologic disease
 -Rare oncologic disease
Rare thrombotic disorder due to an acquired platelet anomaly
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0100576) Amaurosis fugax Very frequent [Orphanet] 13 / 7739
2
 (HPO:0000763) Sensory neuropathy Very frequent [Orphanet] 78 / 7739
3
 (HPO:0100749) Chest pain Very frequent [Orphanet] 92 / 7739
4
 (HPO:0000924) Abnormality of the skeletal system 114 / 7739
5
 (HPO:0001744) Splenomegaly Frequent [Orphanet] 337 / 7739
6
 (HPO:0001063) Acrocyanosis 56 / 7739
7
 (HPO:0002140) Ischemic stroke Very frequent [Orphanet] 70 / 7739
8
 (HPO:0100659) Abnormality of the cerebral vasculature Very frequent [Orphanet] 25 / 7739
9
 (HPO:0001677) Coronary artery disease Very frequent [Orphanet] 58 / 7739
10
 (HPO:0000822) Hypertension 224 / 7739
11
 (HPO:0004420) Arterial thrombosis Very frequent [Orphanet] 20 / 7739
12
 (HPO:0001872) Abnormality of thrombocytes Very frequent [Orphanet] 20 / 7739
13
 (HPO:0005547) Myeloproliferative disorder 7 / 7739
14
 (HPO:0001909) Leukemia Occasional [Orphanet] 46 / 7739
15
 (HPO:0005561) Abnormality of bone marrow cell morphology Very frequent [Orphanet] 11 / 7739
16
 (HPO:0003010) Prolonged bleeding time Very frequent [Orphanet] 88 / 7739
17
 (HPO:0001894) Thrombocytosis 16 / 7739
18
 (HPO:0011875) Abnormal platelet morphology Very frequent [Orphanet] 8 / 7739
19
 (HPO:0003540) Impaired platelet aggregation 17 / 7739
20
 (HPO:0002488) Acute leukemia Occasional [Orphanet] 29 / 7739
21
 (HPO:0002863) Myelodysplasia Occasional [Orphanet] 30 / 7739
22
 (HPO:0004936) Venous thrombosis Very frequent [Orphanet] 41 / 7739
23
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
24
 (HPO:0001428) Somatic mutation 100 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: