THCYT2
MCID: THR087
MIFTS: 17

Thrombocythemia 2 (THCYT2)

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

Aliases & Classifications for Thrombocythemia 2

MalaCards integrated aliases for Thrombocythemia 2:

Name: Thrombocythemia 2 58 76 13 74
Thcyt2 58 76
Thrombocythemia, Type 2 41
Thrombocytosis 2 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant
somatic mutation

Miscellaneous:
germline or somatic mutations may cause the disorder


HPO:

33
thrombocythemia 2:
Inheritance somatic mutation autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 601977
MeSH 45 D013920
MedGen 43 C3275998
UMLS 74 C3275998

Summaries for Thrombocythemia 2

UniProtKB/Swiss-Prot : 76 Thrombocythemia 2: 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.

MalaCards based summary : Thrombocythemia 2, is also known as thcyt2. An important gene associated with Thrombocythemia 2 is MPL (MPL Proto-Oncogene, Thrombopoietin Receptor). Affiliated tissues include bone marrow, and related phenotype is thrombocytosis.

Description from OMIM: 601977

Related Diseases for Thrombocythemia 2

Diseases in the Essential Thrombocythemia family:

Thrombocythemia 1 Thrombocythemia 2
Thrombocythemia 3

Symptoms & Phenotypes for Thrombocythemia 2

Human phenotypes related to Thrombocythemia 2:

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

Clinical features from OMIM:

601977

Drugs & Therapeutics for Thrombocythemia 2

Search Clinical Trials , NIH Clinical Center for Thrombocythemia 2

Genetic Tests for Thrombocythemia 2

Anatomical Context for Thrombocythemia 2

MalaCards organs/tissues related to Thrombocythemia 2:

42
Bone Marrow

Publications for Thrombocythemia 2

Articles related to Thrombocythemia 2:

# Title Authors Year
1
The Asn505 mutation of the c-MPL gene, which causes familial essential thrombocythemia, induces autonomous homodimerization of the c-Mpl protein due to strong amino acid polarity. ( 19483125 )
2009
2
Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin. ( 14764528 )
2004
3
Mpl Baltimore: a thrombopoietin receptor polymorphism associated with thrombocytosis. ( 15269348 )
2004

Variations for Thrombocythemia 2

UniProtKB/Swiss-Prot genetic disease variations for Thrombocythemia 2:

76
# Symbol AA change Variation ID SNP ID
1 MPL p.Ser505Asn VAR_067559 rs121913614
2 MPL p.Trp515Leu VAR_067561 rs121913615
3 MPL p.Pro106Leu VAR_073033 rs750046020

ClinVar genetic disease variations for Thrombocythemia 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MPL NM_005373.2(MPL): c.117G> T (p.Lys39Asn) single nucleotide variant risk factor rs17292650 GRCh37 Chromosome 1, 43803807: 43803807
2 MPL NM_005373.2(MPL): c.117G> T (p.Lys39Asn) single nucleotide variant risk factor rs17292650 GRCh38 Chromosome 1, 43338136: 43338136
3 MPL NM_005373.2(MPL): c.1514G> A (p.Ser505Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121913614 GRCh37 Chromosome 1, 43814979: 43814979
4 MPL NM_005373.2(MPL): c.1514G> A (p.Ser505Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121913614 GRCh38 Chromosome 1, 43349308: 43349308
5 MPL NM_005373.2(MPL): c.79+2T> A single nucleotide variant Pathogenic/Likely pathogenic rs146249964 GRCh38 Chromosome 1, 43337929: 43337929
6 MPL NM_005373.2(MPL): c.79+2T> A single nucleotide variant Pathogenic/Likely pathogenic rs146249964 GRCh37 Chromosome 1, 43803600: 43803600

Expression for Thrombocythemia 2

Search GEO for disease gene expression data for Thrombocythemia 2.

Pathways for Thrombocythemia 2

GO Terms for Thrombocythemia 2

Sources for Thrombocythemia 2

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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