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MCID: THR090
MIFTS: 36

Thrombocythemia 1

Categories: Genetic diseases, Blood diseases, Rare diseases, Cancer diseases, Immune diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Thrombocythemia 1

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MalaCards integrated aliases for Thrombocythemia 1:

Name: Thrombocythemia 1 57 75 13 73
Thrombocytosis 1 57 75
Thcyt1 57 75
Thrombocythemia, Essential 73
Essential Thrombocythemia 75
Thrombocythemia, Somatic 57
Thrombocythemia, Type 1 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
thrombocythemia 1:
Inheritance autosomal dominant inheritance somatic mutation


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Blood diseases Immune diseases
See all MalaCards categories (disease lists)


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Summaries for Thrombocythemia 1

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OMIM : 57 Thrombocythemia, or thrombocytosis, is a myeloproliferative disorder characterized by excessive platelet production resulting in increased numbers of circulating platelets. Thrombocythemia can be associated with thrombotic or hemorrhagic episodes and occasional leukemic transformation (summary by Wiestner et al., 1998). (187950)

MalaCards based summary : Thrombocythemia 1, also known as thrombocytosis 1, is related to polycythemia and essential thrombocythemia. An important gene associated with Thrombocythemia 1 is THPO (Thrombopoietin), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Visual Cycle in Retinal Rods. The drugs Hydroxyurea and Aspirin have been mentioned in the context of this disorder. Affiliated tissues include bone and bone marrow, and related phenotypes are hypertension and abnormality of the skeletal system

UniProtKB/Swiss-Prot : 75 Thrombocythemia 1: 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.

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Related Diseases for Thrombocythemia 1

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Diseases in the Essential Thrombocythemia family:

Thrombocythemia 1 Thrombocythemia 2
Thrombocythemia 3

Diseases related to Thrombocythemia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 polycythemia 28.3 CALR MPL THPO
2 essential thrombocythemia 27.2 CALR MPL SH2B3 THPO
3 thrombocythemia 3 11.0
4 thrombocytopenia 3 10.1 MPL THPO
5 amegakaryocytic thrombocytopenia, congenital 10.1 MPL THPO
6 dyskeratosis congenita, autosomal dominant 6 10.1 MPL THPO
7 thrombocytopenia due to platelet alloimmunization 10.1 MPL THPO
8 primary thrombocytopenia 10.1 MPL THPO
9 autoimmune disease of blood 10.1 MPL THPO
10 thrombocytopenic purpura, autoimmune 10.0 MPL THPO
11 blood coagulation disease 10.0 MPL THPO
12 thrombocytosis 10.0 MPL THPO
13 hemorrhagic disease 10.0 MPL THPO
14 pancytopenia 10.0 MPL THPO
15 blood platelet disease 9.9 MPL THPO
16 erythrocytosis, familial, 1 9.9 SH2B3 THPO
17 purpura 9.9 MPL THPO
18 thrombocytopenia 9.8 MPL THPO
19 leukemia, chronic myeloid 9.8 MPL THPO
20 diamond-blackfan anemia 9.7 MPL THPO
21 hematologic cancer 9.6 MPL THPO
22 celiac disease 1 9.4 CALR SH2B3
23 aplastic anemia 9.3 MPL THPO
24 thrombocytopenia-absent radius syndrome 9.2 CALR MPL THPO
25 polycythemia vera 9.1 CALR MPL THPO
26 bone marrow cancer 9.1 CALR MPL THPO
27 myeloproliferative neoplasm 9.0 CALR MPL SH2B3
28 myelofibrosis 8.4 CALR MPL SH2B3 THPO

Graphical network of the top 20 diseases related to Thrombocythemia 1:



Diseases related to Thrombocythemia 1
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Symptoms & Phenotypes for Thrombocythemia 1

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Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
thrombotic episodes
hemorrhagic episodes

Laboratory Abnormalities:
increased serum thrombopoietin may occur

Hematology:
thrombocythemia
increased bone marrow megakaryocytes


Clinical features from OMIM:

187950

Human phenotypes related to Thrombocythemia 1:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hypertension 32 HP:0000822
2 abnormality of the skeletal system 32 HP:0000924
3 acrocyanosis 32 HP:0001063
4 splenomegaly 32 HP:0001744
5 thrombocytosis 32 HP:0001894
6 impaired platelet aggregation 32 HP:0003540
7 myeloproliferative disorder 32 HP:0005547
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Drugs & Therapeutics for Thrombocythemia 1

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Drugs for Thrombocythemia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxyurea Approved Not Applicable 127-07-1 3657
2
Aspirin Approved, Vet_approved Not Applicable 50-78-2 2244
3 Analgesics Not Applicable
4 Fibrinolytic Agents Not Applicable
5 Cyclooxygenase Inhibitors Not Applicable
6 Analgesics, Non-Narcotic Not Applicable
7 Nucleic Acid Synthesis Inhibitors Not Applicable
8 Peripheral Nervous System Agents Not Applicable
9 Platelet Aggregation Inhibitors Not Applicable
10 Anti-Inflammatory Agents Not Applicable
11 Antipyretics Not Applicable
12 Anti-Inflammatory Agents, Non-Steroidal Not Applicable
13 Antirheumatic Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Primary Thrombocythaemia 1 Trial Completed NCT00175838 Not Applicable Hydroxyurea;Aspirin

Search NIH Clinical Center for Thrombocythemia 1

Inferred drug relations via UMLS 73 / NDF-RT 51 :
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Genetic Tests for Thrombocythemia 1

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Anatomical Context for Thrombocythemia 1

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MalaCards organs/tissues related to Thrombocythemia 1:

41
Bone, Bone Marrow
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Publications for Thrombocythemia 1

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Articles related to Thrombocythemia 1:

# Title Authors Year
1
Management of essential thrombocythemia: implications of the medical research council primary thrombocythemia 1 trial. ( 16673283 )
2006
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Variations for Thrombocythemia 1

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ClinVar genetic disease variations for Thrombocythemia 1:

6
(show top 50) (show all 155)
# Gene Variation Type Significance SNP ID Assembly Location
1 THPO THPO, IVS3, G-C, +1 single nucleotide variant Pathogenic
2 THPO THPO, 1-BP DEL, 3252G deletion Pathogenic
3 THPO THPO, 516G-T single nucleotide variant Pathogenic
4 MPL NM_005373.2(MPL): c.117G> T (p.Lys39Asn) single nucleotide variant risk factor rs17292650 GRCh37 Chromosome 1, 43803807: 43803807
5 MPL NM_005373.2(MPL): c.117G> T (p.Lys39Asn) single nucleotide variant risk factor rs17292650 GRCh38 Chromosome 1, 43338136: 43338136
6 MPL NM_005373.2(MPL): c.1514G> A (p.Ser505Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121913614 GRCh37 Chromosome 1, 43814979: 43814979
7 MPL NM_005373.2(MPL): c.1514G> A (p.Ser505Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121913614 GRCh38 Chromosome 1, 43349308: 43349308
8 SH2B3 NM_005475.2(SH2B3): c.622G> C (p.Glu208Gln) single nucleotide variant Pathogenic rs202080221 GRCh37 Chromosome 12, 111856571: 111856571
9 SH2B3 NM_005475.2(SH2B3): c.622G> C (p.Glu208Gln) single nucleotide variant Pathogenic rs202080221 GRCh38 Chromosome 12, 111418767: 111418767
10 CALR NM_004343.3(CALR): c.1092_1143del52 (p.Leu367Thrfs) deletion Pathogenic GRCh37 Chromosome 19, 13054565: 13054616
11 CALR NM_004343.3(CALR): c.1092_1143del52 (p.Leu367Thrfs) deletion Pathogenic GRCh38 Chromosome 19, 12943751: 12943802
12 ATG2B; BDKRB1; BDKRB2; C14orf132; GSKIP; LOC107984703; TCL1A; TUNAR NC_000014.9: g.95696766_96390792dup duplication Likely pathogenic GRCh37 Chromosome 14, 96163103: 96857129
13 ATG2B; BDKRB1; BDKRB2; C14orf132; GSKIP; LOC107984703; TCL1A; TUNAR NC_000014.9: g.95696766_96390792dup duplication Likely pathogenic GRCh38 Chromosome 14, 95696766: 96390792
14 MPL NM_005373.2(MPL): c.210G> A (p.Pro70=) single nucleotide variant Likely benign rs6086 GRCh37 Chromosome 1, 43803900: 43803900
15 MPL NM_005373.2(MPL): c.210G> A (p.Pro70=) single nucleotide variant Likely benign rs6086 GRCh38 Chromosome 1, 43338229: 43338229
16 MPL NM_005373.2(MPL): c.92T> C (p.Leu31Pro) single nucleotide variant Uncertain significance rs878854771 GRCh38 Chromosome 1, 43338111: 43338111
17 MPL NM_005373.2(MPL): c.92T> C (p.Leu31Pro) single nucleotide variant Uncertain significance rs878854771 GRCh37 Chromosome 1, 43803782: 43803782
18 MPL NM_005373.2(MPL): c.844G> A (p.Gly282Arg) single nucleotide variant Uncertain significance rs878854770 GRCh37 Chromosome 1, 43805788: 43805788
19 MPL NM_005373.2(MPL): c.844G> A (p.Gly282Arg) single nucleotide variant Uncertain significance rs878854770 GRCh38 Chromosome 1, 43340117: 43340117
20 MPL NM_005373.2(MPL): c.1309-10C> T single nucleotide variant Benign/Likely benign rs139486615 GRCh37 Chromosome 1, 43814504: 43814504
21 MPL NM_005373.2(MPL): c.1309-10C> T single nucleotide variant Benign/Likely benign rs139486615 GRCh38 Chromosome 1, 43348833: 43348833
22 MPL NM_005373.2(MPL): c.1653+3G> A single nucleotide variant Benign/Likely benign rs149625825 GRCh37 Chromosome 1, 43817977: 43817977
23 MPL NM_005373.2(MPL): c.1653+3G> A single nucleotide variant Benign/Likely benign rs149625825 GRCh38 Chromosome 1, 43352306: 43352306
24 MPL NM_005373.2(MPL): c.1794C> T (p.Cys598=) single nucleotide variant Benign/Likely benign rs143457144 GRCh38 Chromosome 1, 43352658: 43352658
25 MPL NM_005373.2(MPL): c.1794C> T (p.Cys598=) single nucleotide variant Benign/Likely benign rs143457144 GRCh37 Chromosome 1, 43818329: 43818329
26 THPO NM_000460.3(THPO): c.1030A> G (p.Thr344Ala) single nucleotide variant Benign/Likely benign rs35794435 GRCh38 Chromosome 3, 184372545: 184372545
27 THPO NM_000460.3(THPO): c.1030A> G (p.Thr344Ala) single nucleotide variant Benign/Likely benign rs35794435 GRCh37 Chromosome 3, 184090333: 184090333
28 THPO NM_000460.3(THPO): c.229-17_229-14dupTTCC duplication Likely benign rs55827759 GRCh38 Chromosome 3, 184373596: 184373599
29 THPO NM_000460.3(THPO): c.229-17_229-14dupTTCC duplication Likely benign rs55827759 GRCh37 Chromosome 3, 184091384: 184091387
30 THPO NM_000460.3(THPO): c.*18G> A single nucleotide variant Uncertain significance rs180680111 GRCh37 Chromosome 3, 184090283: 184090283
31 THPO NM_000460.3(THPO): c.*18G> A single nucleotide variant Uncertain significance rs180680111 GRCh38 Chromosome 3, 184372495: 184372495
32 MPL NM_005373.2(MPL): c.196C> T (p.Leu66=) single nucleotide variant Uncertain significance rs886046349 GRCh38 Chromosome 1, 43338215: 43338215
33 MPL NM_005373.2(MPL): c.196C> T (p.Leu66=) single nucleotide variant Uncertain significance rs886046349 GRCh37 Chromosome 1, 43803886: 43803886
34 MPL NM_005373.2(MPL): c.543T> C (p.Gly181=) single nucleotide variant Benign/Likely benign rs17572791 GRCh38 Chromosome 1, 43339422: 43339422
35 MPL NM_005373.2(MPL): c.543T> C (p.Gly181=) single nucleotide variant Benign/Likely benign rs17572791 GRCh37 Chromosome 1, 43805093: 43805093
36 MPL NM_005373.2(MPL): c.1051C> T (p.Arg351Cys) single nucleotide variant Uncertain significance rs201998783 GRCh38 Chromosome 1, 43346515: 43346515
37 MPL NM_005373.2(MPL): c.1051C> T (p.Arg351Cys) single nucleotide variant Uncertain significance rs201998783 GRCh37 Chromosome 1, 43812186: 43812186
38 MPL NM_005373.2(MPL): c.1337G> A (p.Gly446Glu) single nucleotide variant Uncertain significance rs561724539 GRCh38 Chromosome 1, 43348871: 43348871
39 MPL NM_005373.2(MPL): c.1337G> A (p.Gly446Glu) single nucleotide variant Uncertain significance rs561724539 GRCh37 Chromosome 1, 43814542: 43814542
40 MPL NM_005373.2(MPL): c.1570C> T (p.Leu524=) single nucleotide variant Likely benign rs146372205 GRCh38 Chromosome 1, 43352220: 43352220
41 MPL NM_005373.2(MPL): c.1570C> T (p.Leu524=) single nucleotide variant Likely benign rs146372205 GRCh37 Chromosome 1, 43817891: 43817891
42 MPL NM_005373.2(MPL): c.*573G> A single nucleotide variant Likely benign rs192016153 GRCh38 Chromosome 1, 43353345: 43353345
43 MPL NM_005373.2(MPL): c.*573G> A single nucleotide variant Likely benign rs192016153 GRCh37 Chromosome 1, 43819016: 43819016
44 MPL NM_005373.2(MPL): c.*924C> G single nucleotide variant Uncertain significance rs886046354 GRCh37 Chromosome 1, 43819367: 43819367
45 MPL NM_005373.2(MPL): c.*924C> G single nucleotide variant Uncertain significance rs886046354 GRCh38 Chromosome 1, 43353696: 43353696
46 MPL NM_005373.2(MPL): c.*1603A> C single nucleotide variant Likely benign rs142139493 GRCh38 Chromosome 1, 43354375: 43354375
47 MPL NM_005373.2(MPL): c.*1603A> C single nucleotide variant Likely benign rs142139493 GRCh37 Chromosome 1, 43820046: 43820046
48 MPL NM_005373.2(MPL): c.95C> T (p.Ala32Val) single nucleotide variant Uncertain significance rs886046348 GRCh38 Chromosome 1, 43338114: 43338114
49 MPL NM_005373.2(MPL): c.95C> T (p.Ala32Val) single nucleotide variant Uncertain significance rs886046348 GRCh37 Chromosome 1, 43803785: 43803785
50 MPL NM_005373.2(MPL): c.854-3T> C single nucleotide variant Likely benign rs201514537 GRCh38 Chromosome 1, 43340384: 43340384
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Expression for Thrombocythemia 1

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Search GEO for disease gene expression data for Thrombocythemia 1.
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Pathways for Thrombocythemia 1

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Pathways related to Thrombocythemia 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Response to elevated platelet cytosolic Ca2+ 66
Show member pathways
 12.51 MPL SH2B3 THPO
2
Visual Cycle in Retinal Rods 64
11.13 MPL THPO
3
Integrin alphaIIb beta3 signaling 66
Show member pathways
 10.95 MPL THPO
4
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 65
10.86 MPL SH2B3 THPO
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GO Terms for Thrombocythemia 1

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Biological processes related to Thrombocythemia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 thrombopoietin-mediated signaling pathway GO:0038163 8.62 MPL THPO
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Sources for Thrombocythemia 1

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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