ORPHA:3318
Essential thrombocythemia
Synonyms: ET · Essential thrombocytosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- All ages
- Status
- active
Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN) characterized by a sustained elevation of platelet number (> 450 x 109/L) with a tendency for thrombosis and hemorrhage.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Essential thrombocythemia | ET · Essential thrombocytosis |
| fr | Thrombocytémie essentielle | Thrombocytose essentielle |
| de | Essentielle Thrombozythämie | ET · Thrombozytose, essentielle |
| es | Trombocitemia esencial | ET · Trombocitosis esencial |
| it | Trombocitemia essenziale | ET · Trombocitosi essenziale |
| nl | Essentiële trombocytemie | ET · Essentiële trombocytose |
| pt | Trombocitemia essencial | |
| pl | Nadpłytkowość samoistna | ET · Trombocytoza samoistna |
| cs | Esenciální trombocytemie | ET |
| uk | Есенціальна тромбоцитемія | Есенціальний тромбоцитоз · ET |
| zh | 原发性血小板增多症 | 原发性血小板增多症 |
| tr | Esansiyel trombositemi | ET · Esansiyel trombositoz |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 187950 | NTBT | validated | |
| OMIM | 601977 | NTBT | validated | |
| OMIM | 614521 | NTBT | validated | |
| ICD-10 | D47.3 | E | specific | validated |
| ICD-11 | 3B63.1Z | NTBT | index | validated |
| MONDO | 0005029 | E | validated | |
| MeSH | D013920 | E | validated | |
| UMLS | C0040028 | E | validated | |
| GARD | 6594 | E | validated | |
| MedDRA | 10015493 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98274Myeloproliferative neoplasm
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders - ORPHA:248404Rare thrombotic disorder due to an acquired platelet anomaly
rare hematological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:225968OBSOLETE: Inherited predisposition to essential thrombocythemia referred to · inactive
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Genes
6 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TET2 | Biomarker tested in | Assessed | HGNC:25941 | ENSG00000168769 | 612839 | 4q24 | tet methylcytosine dioxygenase 2 | 19262601[PMID]_23781511[PMID] |
| TP53 | Biomarker tested in | Assessed | HGNC:11998 | ENSG00000141510 | 191170 | 17p13.1 | tumor protein p53 | 9258660[PMID]_21653328[PMID]_20068225[PMID] |
| CALR | Disease-causing somatic mutation(s) in | Assessed | HGNC:1455 | ENSG00000179218 | 109091 | 19p13.13 | calreticulin | 24325256[PMID]_24325359[PMID] |
| JAK2 | Disease-causing somatic mutation(s) in | Assessed | HGNC:6192 | ENSG00000096968 | 147796 | 9p24.1 | Janus kinase 2 | 21653328[PMID]_21825979[PMID] |
| MPL | Disease-causing somatic mutation(s) in | Assessed | HGNC:7217 | ENSG00000117400 | 159530 | 1p34.2 | MPL proto-oncogene, thrombopoietin receptor | |
| SH2B3 | Disease-causing somatic mutation(s) in | Assessed | HGNC:29605 | ENSG00000111252 | 605093 | 12q24.12 | SH2B adaptor protein 3 | 21653328[PMID]_21825979[PMID] |
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Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 24 / 100 000 | United States | Value and class | Validated | 18181200[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.55 / 100 000 | Sweden | Value and class | Validated | 16673273[PMID] |
| Point prevalence | 1-5 / 10 000 | 30 / 100 000 | Sweden | Value and class | Validated | 16673273[PMID] |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Annual incidence | 1-9 / 1 000 000 | 0.48 / 100 000 | Europe | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
30 annotations · validated 2023-08-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011875 | Abnormal platelet morphology | |
| HP:0005561 | Abnormality of bone marrow cell morphology | |
| HP:0100659 | Abnormality of the cerebral vasculature | |
| HP:0001872 | Abnormality of thrombocytes | |
| HP:0100576 | Amaurosis fugax | |
| HP:0004420 | Arterial thrombosis | |
| HP:0100749 | Chest pain | |
| HP:0012378 | Fatigue | |
| HP:0005513 | Increased megakaryocyte count | |
| HP:0031388 | Megakaryocyte nucleus hyperlobulation | |
| HP:0001658 | Myocardial infarction | |
| HP:0003401 | Paresthesia | |
| HP:0003010 | Prolonged bleeding time | |
| HP:0001894 | Thrombocytosis | |
| HP:0004936 | Venous thrombosis | |
| Frequent (79-30%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0002315 | Headache | |
| HP:0100785 | Insomnia | |
| HP:0002076 | Migraine | |
| HP:0001744 | Splenomegaly | |
| HP:0002321 | Vertigo | |
| Occasional (29-5%) | ||
| HP:0002488 | Acute leukemia | |
| HP:0000978 | Bruising susceptibility | |
| HP:0032147 | Erythromelalgia | |
| HP:0030243 | Hepatic vein thrombosis | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0002863 | Myelodysplasia | |
| HP:0011974 | Myelofibrosis | |
| HP:0002326 | Transient ischemic attack | |
| HP:0000505 | Visual impairment | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 30969531[PMID]_31774958[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3318
- This record as JSON: /data/d/3318.json