THCYT2
MCID: THR087
MIFTS: 22

Thrombocythemia 2 (THCYT2)

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

Aliases & Classifications for Thrombocythemia 2

MalaCards integrated aliases for Thrombocythemia 2:

Name: Thrombocythemia 2 57 72 13 70
Thcyt2 57 72
Thrombocythemia 2, Susceptibility to 6
Thrombocythemia, Type 2 39
Thrombocytosis 2 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
somatic mutation
autosomal dominant

Miscellaneous:
germline or somatic mutations may cause the disorder


HPO:

31
thrombocythemia 2:
Inheritance autosomal dominant inheritance somatic mutation


Classifications:



External Ids:

OMIM® 57 601977
OMIM Phenotypic Series 57 PS187950
MeSH 44 D013920
MedGen 41 C3275998
UMLS 70 C3275998

Summaries for Thrombocythemia 2

UniProtKB/Swiss-Prot : 72 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, also known as thcyt2, is related to essential thrombocythemia. An important gene associated with Thrombocythemia 2 is MPL (MPL Proto-Oncogene, Thrombopoietin Receptor). Affiliated tissues include bone marrow, bone and myeloid, and related phenotypes are increased megakaryocyte count and thrombocytosis

More information from OMIM: 601977 PS187950

Related Diseases for Thrombocythemia 2

Diseases in the Essential Thrombocythemia family:

Thrombocythemia 1 Thrombocythemia 2
Thrombocythemia 3

Diseases related to Thrombocythemia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 essential thrombocythemia 9.8

Symptoms & Phenotypes for Thrombocythemia 2

Human phenotypes related to Thrombocythemia 2:

31
# Description HPO Frequency HPO Source Accession
1 increased megakaryocyte count 31 HP:0005513
2 thrombocytosis 31 HP:0001894

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Hematology:
thrombocythemia
increased megakaryocytes in bone marrow

Clinical features from OMIM®:

601977 (Updated 20-May-2021)

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:

40
Bone Marrow, Bone, Myeloid

Publications for Thrombocythemia 2

Articles related to Thrombocythemia 2:

(show all 12)
# Title Authors PMID Year
1
Mpl Baltimore: a thrombopoietin receptor polymorphism associated with thrombocytosis. 6 57
15269348 2004
2
Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin. 6 57
14764528 2004
3
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. 6
19483125 2009
4
MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. 57
16868251 2006
5
Pulmonary hypertension associated with myeloproliferative disorders: a retrospective study of ten cases. 61
18160817 2008
6
Association of plasma adiponectin concentrations with chronic lymphocytic leukemia and myeloproliferative diseases. 61
16720558 2006
7
Dlk1 in normal and abnormal hematopoiesis. 61
15959531 2005
8
Effect of anagrelide on platelet count and function in patients with thrombocytosis and myeloproliferative disorders. 61
1398280 1992
9
Circulating activated platelets in myeloproliferative disorders. 61
1709309 1991
10
[Internal carotid occlusion and essential thrombocythemia. 2 cases]. 61
2196654 1990
11
Regional cerebral blood flow in childhood headache. 61
2503464 1989
12
Anagrelide: a new drug for treating thrombocytosis. 61
3362187 1988

Variations for Thrombocythemia 2

ClinVar genetic disease variations for Thrombocythemia 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MPL NM_005373.2(MPL):c.1621C>T (p.Gln541Ter) SNV Pathogenic 134819 rs369156948 GRCh37: 1:43817942-43817942
GRCh38: 1:43352271-43352271
2 MPL NM_005373.2(MPL):c.1514G>A (p.Ser505Asn) SNV Pathogenic 14163 rs121913614 GRCh37: 1:43814979-43814979
GRCh38: 1:43349308-43349308
3 MPL NM_005373.3(MPL):c.79+2T>A SNV Pathogenic 135563 rs146249964 GRCh37: 1:43803600-43803600
GRCh38: 1:43337929-43337929
4 MPL NM_005373.2(MPL):c.305G>C (p.Arg102Pro) SNV Pathogenic 14158 rs28928907 GRCh37: 1:43804305-43804305
GRCh38: 1:43338634-43338634
5 MPL NM_005373.2(MPL):c.378del (p.Phe126fs) Deletion Pathogenic 265249 rs587778515 GRCh37: 1:43804376-43804376
GRCh38: 1:43338705-43338705
6 MPL NM_005373.2(MPL):c.117G>T (p.Lys39Asn) SNV risk factor 14162 rs17292650 GRCh37: 1:43803807-43803807
GRCh38: 1:43338136-43338136
7 MPL NM_005373.3(MPL):c.1610G>A (p.Arg537Gln) SNV Uncertain significance 973650 GRCh37: 1:43817931-43817931
GRCh38: 1:43352260-43352260
8 MPL NM_005373.3(MPL):c.1169G>A (p.Arg390His) SNV Uncertain significance 1032992 GRCh37: 1:43812466-43812466
GRCh38: 1:43346795-43346795

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

72
# 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

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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