THCYT3
MCID: THR086
MIFTS: 21

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 and bone marrow, 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, Bone Marrow

Publications for Thrombocythemia 3

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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