THCYT3
MCID: THR086
MIFTS: 25

Thrombocythemia 3 (THCYT3)

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

Aliases & Classifications for Thrombocythemia 3

MalaCards integrated aliases for Thrombocythemia 3:

Name: Thrombocythemia 3 58 76 30 13 6 74
Thrombocytosis 3 58 76
Thcyt3 58 76
Thrombocythemia, Type 3 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant
somatic mutation

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


HPO:

33
thrombocythemia 3:
Inheritance somatic mutation autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 614521
MeSH 45 D013920
MedGen 43 C3281125
UMLS 74 C3281125

Summaries for Thrombocythemia 3

OMIM : 58 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)

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

UniProtKB/Swiss-Prot : 76 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

Diseases in the Essential Thrombocythemia family:

Thrombocythemia 1 Thrombocythemia 2
Thrombocythemia 3

Diseases related to Thrombocythemia 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lymphoid leukemia 9.7 INSL6 JAK2
2 lymphoblastic leukemia, acute, with lymphomatous features 9.6 INSL6 JAK2
3 budd-chiari syndrome 9.5 INSL6 JAK2

Symptoms & Phenotypes for Thrombocythemia 3

Human phenotypes related to Thrombocythemia 3:

33
# Description HPO Frequency HPO Source Accession
1 thrombocytosis 33 HP:0001894

Symptoms via clinical synopsis from OMIM:

58
Hematology:
thrombocythemia
increased megakaryocytes in bone marrow

Cardiovascular Heart:
myocardial infarction, increased risk of

Clinical features from OMIM:

614521

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 30 JAK2

Anatomical Context for Thrombocythemia 3

MalaCards organs/tissues related to Thrombocythemia 3:

42
Bone Marrow, Endothelial

Publications for Thrombocythemia 3

Articles related to Thrombocythemia 3:

(show all 16)
# Title Authors Year
1
Effect of mutation order on myeloproliferative neoplasms. ( 25671252 )
2015
2
Neuropathy of haematopoietic stem cell niche is essential for myeloproliferative neoplasms. ( 25043017 )
2014
3
Germline JAK2 mutation in a family with hereditary thrombocytosis. ( 22397670 )
2012
4
Mesenchymal and haematopoietic stem cells form a unique bone marrow niche. ( 20703299 )
2010
5
The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome. ( 19293426 )
2009
6
No evidence for increased prevalence of JAK2 V617F in women with a history of recurrent miscarriage. ( 19036091 )
2009
7
Haematopoietic stem cell release is regulated by circadian oscillations. ( 18256599 )
2008
8
JAK2 V617F mutation in unexplained loss of first pregnancy. ( 17989398 )
2007
9
Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. ( 16762626 )
2006
10
The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation. ( 16603627 )
2006
11
Case records of the Massachusetts General Hospital. Case 15-2006. A 46-year-old woman with sudden onset of abdominal distention. ( 16707754 )
2006
12
The JAK2 V617F mutation in de novo acute myelogenous leukemias. ( 16247455 )
2006
13
Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. ( 16325696 )
2005
14
A gain-of-function mutation of JAK2 in myeloproliferative disorders. ( 15858187 )
2005
15
A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. ( 15793561 )
2005
16
Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. ( 15781101 )
2005

Variations for Thrombocythemia 3

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

76
# Symbol AA change Variation ID SNP ID
1 JAK2 p.Val617Phe VAR_032697 rs77375493
2 JAK2 p.Val617Ile VAR_067534 rs77375493

ClinVar genetic disease variations for Thrombocythemia 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 JAK2 NM_004972.3(JAK2): c.1849G> T (p.Val617Phe) single nucleotide variant Pathogenic rs77375493 GRCh37 Chromosome 9, 5073770: 5073770
2 JAK2 NM_004972.3(JAK2): c.1849G> T (p.Val617Phe) single nucleotide variant Pathogenic rs77375493 GRCh38 Chromosome 9, 5073770: 5073770
3 JAK2 NM_004972.3(JAK2): c.1849G> A (p.Val617Ile) single nucleotide variant Pathogenic rs77375493 GRCh37 Chromosome 9, 5073770: 5073770
4 JAK2 NM_004972.3(JAK2): c.1849G> A (p.Val617Ile) single nucleotide variant Pathogenic rs77375493 GRCh38 Chromosome 9, 5073770: 5073770
5 JAK2 NM_004972.3(JAK2): c.2571+5A> C single nucleotide variant not provided GRCh38 Chromosome 9, 5081866: 5081866
6 JAK2 NM_004972.3(JAK2): c.2571+5A> C single nucleotide variant not provided GRCh37 Chromosome 9, 5081866: 5081866

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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