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 57 75 13 73
Thcyt2 57 75
Thrombocythemia, Type 2 40
Thrombocytosis 2 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
somatic mutation

Miscellaneous:
germline or somatic mutations may cause the disorder


HPO:

32
thrombocythemia 2:
Inheritance somatic mutation autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 601977
MedGen 42 C3275998
MeSH 44 D013920
UMLS 73 C3275998

Summaries for Thrombocythemia 2

UniProtKB/Swiss-Prot : 75 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 and 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

Symptoms via clinical synopsis from OMIM:

57
Hematology:
thrombocythemia
increased megakaryocytes in bone marrow


Clinical features from OMIM:

601977

Human phenotypes related to Thrombocythemia 2:

32
# Description HPO Frequency HPO Source Accession
1 thrombocytosis 32 HP:0001894

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:

41
Bone, Bone Marrow

Publications for Thrombocythemia 2

Variations for Thrombocythemia 2

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

75
# 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

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 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
Content
Loading form....