THCYT3
MCID: THR086
MIFTS: 28

Thrombocythemia 3 (THCYT3)

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

Aliases & Classifications for Thrombocythemia 3

MalaCards integrated aliases for Thrombocythemia 3:

Name: Thrombocythemia 3 57 72 29 13 6 70
Thrombocytosis 3 57 72
Thcyt3 57 72
Thrombocythemia, Type 3 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
somatic mutation
autosomal dominant

Miscellaneous:
germline or somatic mutations may cause the disorder
increased risk of myeloproliferative disorders in those with somatic mutations


HPO:

31
thrombocythemia 3:
Inheritance autosomal dominant inheritance somatic mutation


Classifications:



External Ids:

OMIM® 57 614521
OMIM Phenotypic Series 57 PS187950
MeSH 44 D013920
MedGen 41 C3281125
UMLS 70 C3281125

Summaries for Thrombocythemia 3

OMIM® : 57 Thrombocythemia-3 is an autosomal dominant hematologic disorder characterized by increased platelet production resulting in increased numbers of circulating platelets. Thrombocythemia can be associated with thrombotic episodes, such as cerebrovascular events or myocardial infarction (summary by Mead et al., 2012). For a discussion of genetic heterogeneity of thrombocythemia, see THCYT1 (187950). (614521) (Updated 20-May-2021)

MalaCards based summary : Thrombocythemia 3, also known as thrombocytosis 3, is related to lymphoblastic leukemia, acute, with lymphomatous features and erythrocytosis, familial, 1. An important gene associated with Thrombocythemia 3 is JAK2 (Janus Kinase 2). Affiliated tissues include bone marrow, bone and endothelial, and related phenotype is thrombocytosis.

UniProtKB/Swiss-Prot : 72 Thrombocythemia 3: A myeloproliferative disorder characterized by excessive platelet production, resulting in increased numbers of circulating platelets. It can be associated with spontaneous hemorrhages and thrombotic episodes.

Related Diseases for Thrombocythemia 3

Graphical network of the top 20 diseases related to Thrombocythemia 3:



Diseases related to Thrombocythemia 3

Symptoms & Phenotypes for Thrombocythemia 3

Human phenotypes related to Thrombocythemia 3:

31
# Description HPO Frequency HPO Source Accession
1 thrombocytosis 31 HP:0001894

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Hematology:
thrombocythemia
increased megakaryocytes in bone marrow

Cardiovascular Heart:
myocardial infarction, increased risk of

Clinical features from OMIM®:

614521 (Updated 20-May-2021)

Drugs & Therapeutics for Thrombocythemia 3

Search Clinical Trials , NIH Clinical Center for Thrombocythemia 3

Genetic Tests for Thrombocythemia 3

Genetic tests related to Thrombocythemia 3:

# Genetic test Affiliating Genes
1 Thrombocythemia 3 29 JAK2

Anatomical Context for Thrombocythemia 3

MalaCards organs/tissues related to Thrombocythemia 3:

40
Bone Marrow, Bone, Endothelial, Myeloid

Publications for Thrombocythemia 3

Articles related to Thrombocythemia 3:

(show all 24)
# Title Authors PMID Year
1
Germline JAK2 mutation in a family with hereditary thrombocytosis. 57 6
22397670 2012
2
A gain-of-function mutation of JAK2 in myeloproliferative disorders. 6 57
15858187 2005
3
Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. 6 57
15781101 2005
4
Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. 61 6
16762626 2006
5
Effect of mutation order on myeloproliferative neoplasms. 6
25671252 2015
6
Neuropathy of haematopoietic stem cell niche is essential for myeloproliferative neoplasms. 6
25043017 2014
7
Mesenchymal and haematopoietic stem cells form a unique bone marrow niche. 6
20703299 2010
8
JAK2 mutations and coronary ischemia. 57
20660412 2010
9
The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome. 6
19293426 2009
10
No evidence for increased prevalence of JAK2 V617F in women with a history of recurrent miscarriage. 6
19036091 2009
11
Haematopoietic stem cell release is regulated by circadian oscillations. 6
18256599 2008
12
JAK2 V617F mutation in unexplained loss of first pregnancy. 6
17989398 2007
13
Case records of the Massachusetts General Hospital. Case 15-2006. A 46-year-old woman with sudden onset of abdominal distention. 6
16707754 2006
14
The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation. 6
16603627 2006
15
The JAK2 V617F mutation in de novo acute myelogenous leukemias. 6
16247455 2006
16
Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. 6
16325696 2005
17
A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. 6
15793561 2005
18
Essential thrombocythemia: a clonal disorder of hematopoietic stem cell. 57
6837574 1983
19
Primary thrombocythemia: clonal origin of platelets, erythrocytes, and granulocytes in a GdB/GdMediterranean subject. 57
7053766 1982
20
Evidence that essential thrombocythemia is a clonal disorder with origin in a multipotent stem cell. 57
7296002 1981
21
Splenectomy following JAK1/JAK2 inhibitor therapy in patients with myelofibrosis undergoing allogeneic stem cell transplantation. 61
30978308 2019
22
Bone Health in Patients With Hematopoietic Disorders of Bone Marrow Origin: Systematic Review and Meta- Analysis. 61
27787922 2017
23
[Therapy of thrombocytosis in myeloproliferative syndromes using recombinant interferon-alpha-2a]. 61
2799342 1989
24
[Primary hemorrhagic thrombocythemia. 3 cases]. 61
5287077 1971

Variations for Thrombocythemia 3

ClinVar genetic disease variations for Thrombocythemia 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 JAK2 , INSL6 NM_004972.3(JAK2):c.1849G>A (p.Val617Ile) SNV Pathogenic 29763 rs77375493 GRCh37: 9:5073770-5073770
GRCh38: 9:5073770-5073770
2 JAK2 , INSL6 NM_004972.4(JAK2):c.909_910del (p.His303fs) Deletion Pathogenic 1031488 GRCh37: 9:5054856-5054857
GRCh38: 9:5054856-5054857
3 JAK2 , INSL6 NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) SNV Pathogenic 14662 rs77375493 GRCh37: 9:5073770-5073770
GRCh38: 9:5073770-5073770
4 JAK2 , INSL6 NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) SNV Pathogenic 14662 rs77375493 GRCh37: 9:5073770-5073770
GRCh38: 9:5073770-5073770
5 JAK2 , INSL6 NM_004972.4(JAK2):c.3323A>G SNV Uncertain significance 134557 rs142269166 GRCh37: 9:5126715-5126715
GRCh38: 9:5126715-5126715
6 JAK2 , INSL6 NM_004972.4(JAK2):c.2175A>G (p.Glu725=) SNV Uncertain significance 1031487 GRCh37: 9:5080272-5080272
GRCh38: 9:5080272-5080272
7 JAK2 , INSL6 NM_004972.4(JAK2):c.2571+5A>C SNV not provided 585092 rs775085241 GRCh37: 9:5081866-5081866
GRCh38: 9:5081866-5081866

UniProtKB/Swiss-Prot genetic disease variations for Thrombocythemia 3:

72
# Symbol AA change Variation ID SNP ID
1 JAK2 p.Val617Phe VAR_032697 rs77375493
2 JAK2 p.Val617Ile VAR_067534 rs77375493

Expression for Thrombocythemia 3

Search GEO for disease gene expression data for Thrombocythemia 3.

Pathways for Thrombocythemia 3

GO Terms for Thrombocythemia 3

Sources for Thrombocythemia 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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