MCID: THR086
MIFTS: 18

Thrombocythemia 3

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

Aliases & Classifications for Thrombocythemia 3

MalaCards integrated aliases for Thrombocythemia 3:

Name: Thrombocythemia 3 53 71 28 13 69
Thrombocytosis 3 53 71
Thcyt3 53 71

Characteristics:

OMIM:

53
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:

31
thrombocythemia 3:
Inheritance autosomal dominant inheritance somatic mutation


Classifications:



External Ids:

OMIM 53 614521
MedGen 39 C3281125
MeSH 41 D013920
UMLS 69 C3281125

Summaries for Thrombocythemia 3

OMIM : 53 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, is also known as thrombocytosis 3, and has symptoms including thrombocytosis An important gene associated with Thrombocythemia 3 is JAK2 (Janus Kinase 2). Affiliated tissues include bone and bone marrow.

UniProtKB/Swiss-Prot : 71 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

Symptoms & Phenotypes for Thrombocythemia 3

Symptoms via clinical synopsis from OMIM:

53
Cardiovascular Heart:
myocardial infarction, increased risk of

Hematology:
thrombocythemia
increased megakaryocytes in bone marrow


Clinical features from OMIM:

614521

Human phenotypes related to Thrombocythemia 3:

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

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 28 JAK2

Anatomical Context for Thrombocythemia 3

MalaCards organs/tissues related to Thrombocythemia 3:

38
Bone, Bone Marrow

Publications for Thrombocythemia 3

Variations for Thrombocythemia 3

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

71
# 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/Likely pathogenic,risk factor rs77375493 GRCh37 Chromosome 9, 5073770: 5073770
2 JAK2 NM_004972.3(JAK2): c.1849G> A (p.Val617Ile) single nucleotide variant Pathogenic rs77375493 GRCh37 Chromosome 9, 5073770: 5073770

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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