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THC3
MCID: THR111
MIFTS: 35

Thrombocytopenia 3 (THC3)

Categories: Blood diseases, Bone diseases, Cancer diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Thrombocytopenia 3

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MalaCards integrated aliases for Thrombocytopenia 3:

Name: Thrombocytopenia 3 57 72 29 6 70
Thc3 57 72
Thrombocytopenia, Autosomal Recessive, 3 57
Thrombocytopenia, Type 3 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in first months or years of life
two unrelated consanguineous families have been reported (last curated april 2017)


HPO:

31
thrombocytopenia 3:
Inheritance autosomal recessive inheritance


Classifications:

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


External Ids:

OMIM® 57 273900
OMIM Phenotypic Series 57 PS313900
MeSH 44 D013921
MedGen 41 C2678311
UMLS 70 C2678311
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Summaries for Thrombocytopenia 3

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OMIM® : 57 Thrombocytopenia-3 (THC3) is an autosomal recessive hematologic disorder characterized by onset of small-platelet thrombocytopenia in infancy. Patients may show variable bleeding tendency, manifest as petechiae, epistaxis, or heavy menstrual bleeding (summary by Levin et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see 313900. (273900) (Updated 20-May-2021)

MalaCards based summary : Thrombocytopenia 3, also known as thc3, is related to amegakaryocytic thrombocytopenia, congenital and thrombocytopenia, and has symptoms including petechiae of skin An important gene associated with Thrombocytopenia 3 is FYB1 (FYN Binding Protein 1), and among its related pathways/superpathways are NF-kappaB Signaling and JAK-STAT signaling pathway. Affiliated tissues include bone marrow, bone and t cells, and related phenotypes are thrombocytopenia and epistaxis

UniProtKB/Swiss-Prot : 72 Thrombocytopenia 3: Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC3 is an autosomal recessive form characterized by onset in infancy.

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Related Diseases for Thrombocytopenia 3

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Diseases in the Thrombocytopenia family:

Thrombocytopenia 2 Thrombocytopenia 3
Thrombocytopenia 1 Thrombocytopenia 4
Thrombocytopenia 5 Thrombocytopenia 6
Thrombocytopenia 7 Acquired Thrombocytopenia
Thrombocytopenia Due to Platelet Alloimmunization Primary Thrombocytopenia
Ankrd26-Related Thrombocytopenia

Diseases related to Thrombocytopenia 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 amegakaryocytic thrombocytopenia, congenital 29.3 THPO MPL
2 thrombocytopenia 28.9 THPO MPL FYB1
3 dyskeratosis congenita, autosomal dominant 6 9.9 THPO MPL
4 acquired thrombocytopenia 9.9 THPO MPL
5 splenic sequestration 9.8 THPO MPL
6 thrombocythemia 1 9.8 THPO MPL
7 evans' syndrome 9.8 THPO MPL
8 primary thrombocytopenia 9.8 THPO MPL
9 thrombocytopenia-absent radius syndrome 9.8 THPO MPL
10 thrombocytopenia due to platelet alloimmunization 9.8 THPO MPL
11 autoimmune disease of blood 9.8 THPO MPL
12 thrombocytopenic purpura, autoimmune 9.8 THPO MPL
13 purpura 9.8 THPO MPL
14 myeloproliferative syndrome, transient 9.8 THPO MPL
15 thrombocytosis 9.8 THPO MPL
16 bernard-soulier syndrome 9.8 THPO MPL
17 paroxysmal nocturnal hemoglobinuria 9.8 THPO MPL
18 acute megakaryocytic leukemia 9.8 THPO MPL
19 polycythemia 9.8 THPO MPL
20 blood platelet disease 9.8 THPO MPL
21 blood coagulation disease 9.8 THPO MPL
22 pancytopenia 9.8 THPO MPL
23 bone marrow cancer 9.8 THPO MPL
24 polycythemia vera 9.8 THPO MPL
25 essential thrombocythemia 9.8 THPO MPL
26 myeloproliferative neoplasm 9.7 THPO MPL
27 hemorrhagic disease 9.7 THPO MPL
28 aplastic anemia 9.7
29 leukemia, acute lymphoblastic 9.7
30 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.7
31 neutropenia 9.7 THPO MPL
32 acute leukemia 9.7 THPO MPL
33 myelofibrosis 9.7 THPO MPL
34 hematologic cancer 9.6 THPO MPL
35 diamond-blackfan anemia 9.6 THPO MPL
36 leukemia, chronic myeloid 9.5 THPO MPL

Graphical network of the top 20 diseases related to Thrombocytopenia 3:



Diseases related to Thrombocytopenia 3
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Symptoms & Phenotypes for Thrombocytopenia 3

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Human phenotypes related to Thrombocytopenia 3:

31
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 31 very rare (1%) HP:0001873
2 epistaxis 31 very rare (1%) HP:0000421
3 petechiae 31 very rare (1%) HP:0000967
4 decreased mean platelet volume 31 very rare (1%) HP:0005537

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Hematology:
thrombocytopenia
small platelets
mildly increased bleeding tendency
defect in megakaryocyte maturation

Genitourinary Internal Genitalia Female:
heavy menstrual flow

Head And Neck Nose:
epistaxis

Skin Nails Hair Skin:
petechial rash

Clinical features from OMIM®:

273900 (Updated 20-May-2021)

UMLS symptoms related to Thrombocytopenia 3:


petechiae of skin
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Drugs & Therapeutics for Thrombocytopenia 3

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Search Clinical Trials , NIH Clinical Center for Thrombocytopenia 3

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Genetic Tests for Thrombocytopenia 3

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Genetic tests related to Thrombocytopenia 3:

# Genetic test Affiliating Genes
1 Thrombocytopenia 3 29 FYB1
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Anatomical Context for Thrombocytopenia 3

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MalaCards organs/tissues related to Thrombocytopenia 3:

40
Bone Marrow, Bone, T Cells, Endothelial, Myeloid, Brain
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Publications for Thrombocytopenia 3

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Articles related to Thrombocytopenia 3:

(show top 50) (show all 115)
# Title Authors PMID Year
1
Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small-platelet thrombocytopenia. 6 57
25876182 2015
2
Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report. 57 6
25516138 2014
3
Small-platelet thrombocytopenia in a family with autosomal recessive inheritance pattern. 57
23650215 2013
4
Thrombocytopenia in 4 newborn siblings. 57
5818913 1969
5
Chromosome abnormalities in constitutional aplastic anemia. 57
5901871 1966
6
Familial idiopathic thrombocytopenic purpura. 57
13976557 1963
7
Thrombopenic purpura; report of 4 cases in one family. 57
15410684 1950
8
A phase 2 study of valproic acid and radiation, followed by maintenance valproic acid and bevacizumab in children with newly diagnosed diffuse intrinsic pontine glioma or high-grade glioma. 61
32285998 2020
9
Safety and Efficacy of Chemotherapy Combined with Anlotinib Plus Anlotinib Maintenance in Chinese Patients with Advanced/Metastatic Soft Tissue Sarcoma. 61
32110053 2020
10
A Phase II, Single-Arm Study of Apatinib and Oral Etoposide in Heavily Pre-Treated Metastatic Breast Cancer. 61
33659204 2020
11
Development and field evaluation of a species-specific mt-COI targeted SYBR-Green Real Time PCR for detection and quantification of Haemonchus contortus in cattle in Turkey. 61
31896019 2020
12
Clinical Efficacy and Tumor Microenvironment Influence in a Dose-Escalation Study of Anti-CD19 Chimeric Antigen Receptor T Cells in Refractory B-Cell Non-Hodgkin's Lymphoma. 61
31444250 2019
13
Comparative measurement of FeLV load in hemolymphatic tissues of cats with hematologic cytopenias. 61
31856815 2019
14
Efficacy and safety of bevacizumab combined with chemotherapy in symptomatic brain metastases from lung adenocarcinoma: a retrospective analysis. 61
31903262 2019
15
Lenalidomide plus rituximab (R2 ) in previously untreated marginal zone lymphoma: subgroup analysis and long-term follow-up of an open-label phase 2 trial. 61
30919940 2019
16
Nivolumab for Relapsed/Refractory Diffuse Large B-Cell Lymphoma in Patients Ineligible for or Having Failed Autologous Transplantation: A Single-Arm, Phase II Study. 61
30620669 2019
17
Five-year follow-up of lenalidomide plus rituximab as initial treatment of mantle cell lymphoma. 61
30181173 2018
18
Asymptomatic Lupus Cystitis with Bilateral Hydronephrosis. 61
30345278 2018
19
Efficacy and safety of apatinib in patients with advanced nonsmall cell lung cancer that failed prior chemotherapy or EGFR-TKIs: A pooled analysis. 61
30170427 2018
20
Real life triplet FIr/FOx chemotherapy in first-line metastatic pancreatic ductal adenocarcinoma patients: recommended schedule for expected activity and safety and phase II study. 61
30159128 2018
21
Extra-criteria manifestations of antiphospholipid syndrome: Risk assessment and management. 61
29395258 2018
22
Tolerability of obinutuzumab therapy in patients with rituximab-relapsed/refractory B-cell malignancies - a retrospective single center cohort study. 61
30042825 2018
23
Phase I trial of dasatinib, lenalidomide, and temozolomide in children with relapsed or refractory central nervous system tumors. 61
29427149 2018
24
Pre-operative hyperfractionated concurrent radiochemotherapy for locally advanced rectal cancers: a phase II clinical study. 61
28466686 2017
25
Phase 1 study of ixazomib alone or combined with lenalidomide-dexamethasone in Japanese patients with relapsed/refractory multiple myeloma. 61
28000099 2017
26
Phase Ib study of duligotuzumab (MEHD7945A) plus cisplatin/5-fluorouracil or carboplatin/paclitaxel for first-line treatment of recurrent/metastatic squamous cell carcinoma of the head and neck. 61
27525588 2016
27
Incidence of Zika Virus Disease by Age and Sex - Puerto Rico, November 1, 2015-October 20, 2016. 61
27832051 2016
28
Significance of Bioindicators for Early Predictions on Diagnosis and Therapy of Irradiated Minipigs. 61
27356060 2016
29
Anesthetic considerations in HELLP syndrome. 61
26446688 2016
30
Envenomation by the invasive Pterois volitans species (lionfish) in the French West Indies--a two-year prospective study in Martinique. 61
26857556 2016
31
Bortezomib use in a pediatric cardiac transplant center. 61
24931171 2014
32
Dual inhibition of the vascular endothelial growth factor pathway: a phase 1 trial evaluating bevacizumab and AZD2171 (cediranib) in patients with advanced solid tumors. 61
24752867 2014
33
A phase II study of bevacizumab, oxaliplatin, and capecitabine in patients with previously untreated metastatic colorectal cancer: a prospective, multicenter trial of the Korean Cancer Study Group. 61
23111359 2014
34
[Efficacy and safety of tirofiban use after successful percutaneous coronary intervention for patients with moderate to high risk non-ST segment elevation acute coronary syndromes]. 61
24331798 2013
35
One-day DCF regimen in patients with metastatic gastric cancer. 61
23748805 2013
36
Expected benefits of topotecan combined with lapatinib in recurrent ovarian cancer according to biological profile: a phase 2 trial. 61
23027040 2012
37
Phase II study of Gleevec plus hydroxyurea in adults with progressive or recurrent low-grade glioma. 61
22371319 2012
38
A phase II evaluation of trabectedin in the treatment of advanced, persistent, or recurrent uterine leiomyosarcoma: a gynecologic oncology group study. 61
21996263 2012
39
A phase I study of PF-04929113 (SNX-5422), an orally bioavailable heat shock protein 90 inhibitor, in patients with refractory solid tumor malignancies and lymphomas. 61
21908572 2011
40
Frequency of maternal mortality and morbidity in pregnancy-induced hypertension. 61
23472415 2011
41
[Multicenter phase II study of pre-administered uracil/tegafur (UFT) plus gemcitabine for unresectable/recurrent pancreatic cancer]. 61
21566438 2011
42
Tolerability of metronomic administration of lomustine in dogs with cancer. 61
21314727 2011
43
In vitro inhibitory effect of tetrahydrocurcuminoids on Fusarium proliferatum growth and fumonisin B₁ biosynthesis. 61
21240822 2011
44
Efficacy and safety of capecitabine in combination with docetaxel and mitomycin C in patients with pre-treated pancreatic, gallbladder, and bile duct carcinoma. 61
20224968 2010
45
A phase I study of the safety and pharmacokinetics of the histone deacetylase inhibitor belinostat administered in combination with carboplatin and/or paclitaxel in patients with solid tumours. 61
20588278 2010
46
Intra-arterial chemotherapy with osmotic blood-brain barrier disruption for aggressive oligodendroglial tumors: results of a phase I study. 61
20023537 2010
47
Pomalidomide (CC4047) plus low-dose dexamethasone as therapy for relapsed multiple myeloma. 61
19720894 2009
48
A phase 2 study of yttrium-90 ibritumomab tiuxetan (Zevalin) in patients with chronic lymphocytic leukemia. 61
19637351 2009
49
Three-day topotecan schedule in heavily pretreated recurrent ovarian cancer patients. 61
19407574 2009
50
Bortezomib in combination with epirubicin, dexamethasone and thalidomide is a highly effective regimen in the treatment of multiple myeloma: a single-center experience. 61
19082817 2009
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Variations for Thrombocytopenia 3

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ClinVar genetic disease variations for Thrombocytopenia 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FYB1 NM_001465.6(FYB1):c.393G>A (p.Trp131Ter) SNV Pathogenic 417971 rs745672593 GRCh37: 5:39202670-39202670
GRCh38: 5:39202568-39202568
2 FYB1 NM_001465.6(FYB1):c.1383_1384AT[1] (p.Thr461_Tyr462insTer) Microsatellite Pathogenic 417970 rs1060505056 GRCh37: 5:39138767-39138768
GRCh38: 5:39138665-39138666
3 FYB1 NM_001465.6(FYB1):c.2434A>C (p.Asn812His) SNV Uncertain significance 1031985 GRCh37: 5:39110459-39110459
GRCh38: 5:39110357-39110357
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Expression for Thrombocytopenia 3

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Search GEO for disease gene expression data for Thrombocytopenia 3.
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Pathways for Thrombocytopenia 3

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Pathways related to Thrombocytopenia 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
NF-kappaB Signaling 4
11.88 MPL FYB1
2
JAK-STAT signaling pathway 36
Show member pathways
 11.65 THPO MPL
3
Visual Cycle in Retinal Rods 63
11.13 THPO MPL
4
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.02 THPO MPL
5
G-protein signaling_RhoA regulation pathway 23
11.01 THPO FYB1
6
Integrin alphaIIb beta3 signaling 65
Show member pathways
 10.61 THPO MPL
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GO Terms for Thrombocytopenia 3

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Biological processes related to Thrombocytopenia 3 according to GeneCards Suite gene sharing:

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

Molecular functions related to Thrombocytopenia 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 8.62 THPO FYB1
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Sources for Thrombocytopenia 3

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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
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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