MCID: THR086
MIFTS: 21

Thrombocythemia 3

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

Aliases & Classifications for Thrombocythemia 3

MalaCards integrated aliases for Thrombocythemia 3:

Name: Thrombocythemia 3 57 75 29 13 6 73
Thrombocytosis 3 57 75
Thcyt3 57 75
Thrombocythemia, Type 3 40

Characteristics:

OMIM:

57
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:

32
thrombocythemia 3:
Inheritance autosomal dominant inheritance somatic mutation


Classifications:



External Ids:

OMIM 57 614521
MedGen 42 C3281125
MeSH 44 D013920
UMLS 73 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)

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 and bone marrow, and related phenotype is thrombocytosis.

UniProtKB/Swiss-Prot : 75 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 9.3 INSL6 JAK2
2 lymphoblastic leukemia, acute, with lymphomatous features 9.2 INSL6 JAK2
3 budd-chiari syndrome 9.0 INSL6 JAK2

Symptoms & Phenotypes for Thrombocythemia 3

Symptoms via clinical synopsis from OMIM:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 thrombocytosis 32 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 29 JAK2

Anatomical Context for Thrombocythemia 3

MalaCards organs/tissues related to Thrombocythemia 3:

41
Bone, Bone Marrow

Publications for Thrombocythemia 3

Variations for Thrombocythemia 3

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

75
# 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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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