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THC3
MCID: THR111
MIFTS: 36

Thrombocytopenia 3 (THC3)

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

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MalaCards integrated aliases for Thrombocytopenia 3:

Name: Thrombocytopenia 3 58 76 30 6 74
Thc3 58 76
Thrombocytopenia, Autosomal Recessive, 3 58
Thrombocytopenia, Type 3 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
thrombocytopenia 3:
Inheritance autosomal recessive inheritance


Classifications:

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


External Ids:

OMIM 58 273900
MeSH 45 D013921
MedGen 43 C2678311
UMLS 74 C2678311
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Summaries for Thrombocytopenia 3

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OMIM : 58 Thrombocytopenia-3 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)

MalaCards based summary : Thrombocytopenia 3, also known as thc3, is related to thrombocytopenia and thrombocythemia 1, 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 (KEGG). The drug Ethanol has been mentioned in the context of this disorder. Affiliated tissues include skin, myeloid and bone marrow, and related phenotypes are abnormal bleeding and abnormality of the skeletal system

UniProtKB/Swiss-Prot : 76 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
Acquired Thrombocytopenia Thrombocytopenia Due to Platelet Alloimmunization
Primary Thrombocytopenia Ankrd26-Related Thrombocytopenia
Myh9 Related Thrombocytopenia

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

(show all 26)
# Related Disease Score Top Affiliating Genes
1 thrombocytopenia 9.9 MPL THPO
2 thrombocythemia 1 9.9 MPL THPO
3 dyskeratosis congenita, autosomal dominant 6 9.9 MPL THPO
4 amegakaryocytic thrombocytopenia, congenital 9.9 MPL THPO
5 thrombocytopenia due to platelet alloimmunization 9.9 MPL THPO
6 primary thrombocytopenia 9.9 MPL THPO
7 autoimmune disease of blood 9.9 MPL THPO
8 thrombocytopenia-absent radius syndrome 9.9 MPL THPO
9 thrombocytopenic purpura, autoimmune 9.9 MPL THPO
10 purpura 9.9 MPL THPO
11 blood coagulation disease 9.9 MPL THPO
12 thrombocytosis 9.8 MPL THPO
13 pancytopenia 9.8 MPL THPO
14 blood platelet disease 9.8 MPL THPO
15 hemorrhagic disease 9.8 MPL THPO
16 polycythemia 9.8 MPL THPO
17 polycythemia vera 9.8 MPL THPO
18 bone marrow cancer 9.8 MPL THPO
19 essential thrombocythemia 9.8 MPL THPO
20 myelofibrosis 9.8 MPL THPO
21 leukemia, chronic myeloid 9.8 MPL THPO
22 diamond-blackfan anemia 9.7 MPL THPO
23 hematologic cancer 9.7 MPL THPO
24 aplastic anemia 9.7 MPL THPO
25 leukemia, acute myeloid 9.6 MPL THPO
26 myelodysplastic syndrome 9.5 MPL THPO

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:

33
# Description HPO Frequency HPO Source Accession
1 abnormal bleeding 33 HP:0001892
2 abnormality of the skeletal system 33 HP:0000924
3 thrombocytopenia 33 HP:0001873
4 epistaxis 33 HP:0000421
5 decreased mean platelet volume 33 HP:0005537

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Thrombocytopenia 3:


petechiae of skin
Sources

Drugs & Therapeutics for Thrombocytopenia 3

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Drugs for Thrombocytopenia 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 2 64-17-5 702

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Marijuana's Impact on Alcohol Motivation and Consumption Recruiting NCT02983773 Phase 2 THC 7.2%;THC 3.0%;Placebo

Search 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 30 FYB1
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Anatomical Context for Thrombocytopenia 3

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MalaCards organs/tissues related to Thrombocytopenia 3:

42
Skin, Myeloid, Bone Marrow
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Publications for Thrombocytopenia 3

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Articles related to Thrombocytopenia 3:

# Title Authors Year
1
Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small-platelet thrombocytopenia. ( 25876182 )
2015
2
Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report. ( 25516138 )
2014
3
Congenital amegakaryocytic thrombocytopenia-3 novel c-MPL mutations and their phenotypic correlations. ( 18090929 )
2007
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Variations for Thrombocytopenia 3

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ClinVar genetic disease variations for Thrombocytopenia 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FYB1 NM_001243093.1(FYB1): c.1415_1416del (p.Tyr472Terfs) deletion Pathogenic rs1060505056 GRCh37 Chromosome 5, 39138767: 39138768
2 FYB1 NM_001243093.1(FYB1): c.1415_1416del (p.Tyr472Terfs) deletion Pathogenic rs1060505056 GRCh38 Chromosome 5, 39138665: 39138666
3 FYB1 NM_001243093.1(FYB1): c.423G> A (p.Trp141Ter) single nucleotide variant Pathogenic rs745672593 GRCh38 Chromosome 5, 39202568: 39202568
4 FYB1 NM_001243093.1(FYB1): c.423G> A (p.Trp141Ter) single nucleotide variant Pathogenic rs745672593 GRCh37 Chromosome 5, 39202670: 39202670
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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
11.92 FYB1 MPL
2
JAK-STAT signaling pathway (KEGG) 66
Show member pathways
 11.69 MPL THPO
3
Visual Cycle in Retinal Rods 65
11.13 MPL THPO
4
G-protein signaling_RhoA regulation pathway 23
11.06 FYB1 THPO
5
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 66
11.02 MPL THPO
6
Development_Thrombopoetin signaling via JAK-STAT pathway 23
10.62 MPL THPO
7
Integrin alphaIIb beta3 signaling 67
Show member pathways
 10.61 MPL THPO
Sources

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 cell proliferation GO:0008283 8.96 MPL THPO
2 thrombopoietin-mediated signaling pathway GO:0038163 8.62 MPL THPO

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 FYB1 THPO
Sources

Sources for Thrombocytopenia 3

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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