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THCYT1
MCID: THR090
MIFTS: 40

Thrombocythemia 1 (THCYT1)

Categories: Blood diseases, Bone diseases, Cancer diseases, Genetic diseases, Immune diseases, Rare 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 somatic mutation autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Cancer diseases Rare diseases
Anatomical: Blood diseases Bone 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 thrombocytosis and myeloproliferative neoplasm. 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 Aspirin and Hydroxyurea have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and bone marrow, and related phenotypes are hypertension and splenomegaly

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 top 50) (show all 144)
# Related Disease Score Top Affiliating Genes
1 thrombocytosis 32.4 THPO MPL
2 myeloproliferative neoplasm 31.8 SH2B3 MPL CALR
3 polycythemia vera 31.3 THPO MPL CALR
4 myelofibrosis 30.6 THPO SH2B3 MPL CALR
5 thrombocytopenia 30.5 THPO MPL
6 leukemia, chronic myeloid 30.1 THPO MPL
7 thrombocytopenic purpura, autoimmune 30.0 THPO MPL
8 purpura 30.0 THPO MPL
9 thrombocytopenia due to platelet alloimmunization 29.8 THPO MPL
10 polycythemia 29.5 THPO MPL CALR
11 aplastic anemia 29.5 THPO MPL
12 essential thrombocythemia 29.0 THPO SH2B3 MPL CALR
13 acquired von willebrand syndrome 11.5
14 thrombocythemia 3 11.1
15 thrombosis 10.8
16 leukemia 10.7
17 myeloid leukemia 10.5
18 myocardial infarction 10.5
19 leukemia, acute myeloid 10.4
20 lymphocytic leukemia 10.4
21 myeloma, multiple 10.4
22 acute myocardial infarction 10.3
23 ischemia 10.3
24 leukemia, chronic lymphocytic 2 10.3
25 leukemia, chronic lymphocytic 10.3
26 leukemia, b-cell, chronic 10.3
27 erythromelalgia 10.3
28 budd-chiari syndrome 10.2
29 heparin-induced thrombocytopenia 10.2
30 lymphoma 10.2
31 sarcoma 10.2
32 myeloid sarcoma 10.2
33 thrombophilia due to thrombin defect 10.2
34 myelodysplastic syndrome 10.2
35 von willebrand's disease 10.2
36 leukemia, acute lymphoblastic 10.1
37 acute biphenotypic leukemia 10.1
38 thrombophilia 10.1
39 splenomegaly 10.1
40 refractory anemia 10.1
41 thrombocytopenia 3 10.0 THPO MPL
42 dyskeratosis congenita, autosomal dominant 6 10.0 THPO MPL
43 amegakaryocytic thrombocytopenia, congenital 10.0 THPO MPL
44 primary thrombocytopenia 10.0 THPO MPL
45 autoimmune disease of blood 10.0 THPO MPL
46 stroke, ischemic 10.0
47 deficiency anemia 10.0
48 arthritis 10.0
49 hemolytic anemia 10.0
50 coronary thrombosis 10.0

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 splenomegaly 32 HP:0001744
3 acrocyanosis 32 HP:0001063
4 abnormality of the skeletal system 32 HP:0000924
5 thrombocytosis 32 HP:0001894
6 myeloproliferative disorder 32 HP:0005547
7 impaired platelet aggregation 32 HP:0003540
Sources

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
Aspirin Approved, Vet_approved Not Applicable 50-78-2 2244
2
Hydroxyurea Approved Not Applicable 127-07-1 3657
3 Fibrinolytic Agents Not Applicable
4 Platelet Aggregation Inhibitors Not Applicable
5 Antirheumatic Agents Not Applicable
6 Cyclooxygenase Inhibitors Not Applicable
7 Analgesics, Non-Narcotic Not Applicable
8 Anti-Inflammatory Agents Not Applicable
9 Peripheral Nervous System Agents Not Applicable
10 Anti-Inflammatory Agents, Non-Steroidal Not Applicable
11 Nucleic Acid Synthesis Inhibitors Not Applicable
12 Antipyretics Not Applicable
13 Analgesics 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, Testes, Bone Marrow, Lung, Heart, Myeloid, Placenta
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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 175)
# 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 MPL NM_005373.2(MPL): c.340G> A (p.Val114Met) single nucleotide variant Benign/Likely benign rs12731981 GRCh38 Chromosome 1, 43338669: 43338669
13 MPL NM_005373.2(MPL): c.340G> A (p.Val114Met) single nucleotide variant Benign/Likely benign rs12731981 GRCh37 Chromosome 1, 43804340: 43804340
14 MPL NM_005373.2(MPL): c.690A> G (p.Glu230=) single nucleotide variant Benign rs16830693 GRCh38 Chromosome 1, 43339569: 43339569
15 MPL NM_005373.2(MPL): c.690A> G (p.Glu230=) single nucleotide variant Benign rs16830693 GRCh37 Chromosome 1, 43805240: 43805240
16 MPL NM_005373.2(MPL): c.962G> A (p.Arg321Gln) single nucleotide variant Benign/Likely benign rs149265851 GRCh37 Chromosome 1, 43806166: 43806166
17 MPL NM_005373.2(MPL): c.962G> A (p.Arg321Gln) single nucleotide variant Benign/Likely benign rs149265851 GRCh38 Chromosome 1, 43340495: 43340495
18 MPL NM_005373.2(MPL): c.1120A> G (p.Thr374Ala) single nucleotide variant Benign/Likely benign rs190983971 GRCh37 Chromosome 1, 43812255: 43812255
19 MPL NM_005373.2(MPL): c.1120A> G (p.Thr374Ala) single nucleotide variant Benign/Likely benign rs190983971 GRCh38 Chromosome 1, 43346584: 43346584
20 MPL NM_005373.2(MPL): c.1102G> T (p.Val368Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149810307 GRCh37 Chromosome 1, 43812237: 43812237
21 MPL NM_005373.2(MPL): c.1102G> T (p.Val368Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149810307 GRCh38 Chromosome 1, 43346566: 43346566
22 MPL NM_005373.2(MPL): c.1565+5C> T single nucleotide variant Conflicting interpretations of pathogenicity rs41269541 GRCh38 Chromosome 1, 43349364: 43349364
23 MPL NM_005373.2(MPL): c.1565+5C> T single nucleotide variant Conflicting interpretations of pathogenicity rs41269541 GRCh37 Chromosome 1, 43815035: 43815035
24 ATG2B; BDKRB1; BDKRB2; C14orf132; GSKIP; LOC107984703; TCL1A; TUNAR NC_000014.9: g.95696766_96390792dup duplication Likely pathogenic GRCh37 Chromosome 14, 96163103: 96857129
25 ATG2B; BDKRB1; BDKRB2; C14orf132; GSKIP; LOC107984703; TCL1A; TUNAR NC_000014.9: g.95696766_96390792dup duplication Likely pathogenic GRCh38 Chromosome 14, 95696766: 96390792
26 MPL NM_005373.2(MPL): c.210G> A (p.Pro70=) single nucleotide variant Likely benign rs6086 GRCh37 Chromosome 1, 43803900: 43803900
27 MPL NM_005373.2(MPL): c.210G> A (p.Pro70=) single nucleotide variant Likely benign rs6086 GRCh38 Chromosome 1, 43338229: 43338229
28 MPL NM_005373.2(MPL): c.92T> C (p.Leu31Pro) single nucleotide variant Uncertain significance rs878854771 GRCh38 Chromosome 1, 43338111: 43338111
29 MPL NM_005373.2(MPL): c.92T> C (p.Leu31Pro) single nucleotide variant Uncertain significance rs878854771 GRCh37 Chromosome 1, 43803782: 43803782
30 MPL NM_005373.2(MPL): c.844G> A (p.Gly282Arg) single nucleotide variant Uncertain significance rs878854770 GRCh37 Chromosome 1, 43805788: 43805788
31 MPL NM_005373.2(MPL): c.844G> A (p.Gly282Arg) single nucleotide variant Uncertain significance rs878854770 GRCh38 Chromosome 1, 43340117: 43340117
32 MPL NM_005373.2(MPL): c.1309-10C> T single nucleotide variant Benign/Likely benign rs139486615 GRCh37 Chromosome 1, 43814504: 43814504
33 MPL NM_005373.2(MPL): c.1309-10C> T single nucleotide variant Benign/Likely benign rs139486615 GRCh38 Chromosome 1, 43348833: 43348833
34 MPL NM_005373.2(MPL): c.1653+3G> A single nucleotide variant Benign/Likely benign rs149625825 GRCh37 Chromosome 1, 43817977: 43817977
35 MPL NM_005373.2(MPL): c.1653+3G> A single nucleotide variant Benign/Likely benign rs149625825 GRCh38 Chromosome 1, 43352306: 43352306
36 MPL NM_005373.2(MPL): c.1794C> T (p.Cys598=) single nucleotide variant Benign/Likely benign rs143457144 GRCh38 Chromosome 1, 43352658: 43352658
37 MPL NM_005373.2(MPL): c.1794C> T (p.Cys598=) single nucleotide variant Benign/Likely benign rs143457144 GRCh37 Chromosome 1, 43818329: 43818329
38 THPO NM_000460.3(THPO): c.1030A> G (p.Thr344Ala) single nucleotide variant Benign/Likely benign rs35794435 GRCh38 Chromosome 3, 184372545: 184372545
39 THPO NM_000460.3(THPO): c.1030A> G (p.Thr344Ala) single nucleotide variant Benign/Likely benign rs35794435 GRCh37 Chromosome 3, 184090333: 184090333
40 THPO NM_000460.3(THPO): c.229-17_229-14dupTTCC duplication Benign/Likely benign rs55827759 GRCh38 Chromosome 3, 184373596: 184373599
41 THPO NM_000460.3(THPO): c.229-17_229-14dupTTCC duplication Benign/Likely benign rs55827759 GRCh37 Chromosome 3, 184091384: 184091387
42 THPO NM_000460.3(THPO): c.*18G> A single nucleotide variant Uncertain significance rs180680111 GRCh37 Chromosome 3, 184090283: 184090283
43 THPO NM_000460.3(THPO): c.*18G> A single nucleotide variant Uncertain significance rs180680111 GRCh38 Chromosome 3, 184372495: 184372495
44 MPL NM_005373.2(MPL): c.196C> T (p.Leu66=) single nucleotide variant Uncertain significance rs886046349 GRCh38 Chromosome 1, 43338215: 43338215
45 MPL NM_005373.2(MPL): c.196C> T (p.Leu66=) single nucleotide variant Uncertain significance rs886046349 GRCh37 Chromosome 1, 43803886: 43803886
46 MPL NM_005373.2(MPL): c.543T> C (p.Gly181=) single nucleotide variant Benign/Likely benign rs17572791 GRCh38 Chromosome 1, 43339422: 43339422
47 MPL NM_005373.2(MPL): c.543T> C (p.Gly181=) single nucleotide variant Benign/Likely benign rs17572791 GRCh37 Chromosome 1, 43805093: 43805093
48 MPL NM_005373.2(MPL): c.1051C> T (p.Arg351Cys) single nucleotide variant Uncertain significance rs201998783 GRCh38 Chromosome 1, 43346515: 43346515
49 MPL NM_005373.2(MPL): c.1051C> T (p.Arg351Cys) single nucleotide variant Uncertain significance rs201998783 GRCh37 Chromosome 1, 43812186: 43812186
50 MPL NM_005373.2(MPL): c.1337G> A (p.Gly446Glu) single nucleotide variant Uncertain significance rs561724539 GRCh38 Chromosome 1, 43348871: 43348871
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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
 12.58 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
5
Development_Thrombopoetin signaling via JAK-STAT pathway 22
10.62 MPL 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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