MCID: THR111
MIFTS: 32

Thrombocytopenia 3

Categories: Genetic diseases, Blood diseases, Rare diseases, Immune diseases

Aliases & Classifications for Thrombocytopenia 3

MalaCards integrated aliases for Thrombocytopenia 3:

Name: Thrombocytopenia 3 57 75 29 6 73
Thc3 57 75
Thrombocytopenia, Autosomal Recessive, 3 57
Thrombocytopenia, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
thrombocytopenia 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 273900
MedGen 42 C2678311
MeSH 44 D013921
UMLS 73 C2678311

Summaries for Thrombocytopenia 3

OMIM : 57 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 thrombocythemia 1 and amegakaryocytic thrombocytopenia, congenital, 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 Regulation of IFNA signaling and NF-kappaB Signaling. The drug Ethanol has been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are abnormal bleeding and abnormality of the skeletal system

UniProtKB/Swiss-Prot : 75 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.

Related Diseases for Thrombocytopenia 3

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



Diseases related to Thrombocytopenia 3

Symptoms & Phenotypes for Thrombocytopenia 3

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Nose:
epistaxis

Skin Nails Hair Skin:
petechial rash

Genitourinary Internal Genitalia Female:
heavy menstrual flow

Hematology:
thrombocytopenia
small platelets
mildly increased bleeding tendency
defect in megakaryocyte maturation


Clinical features from OMIM:

273900

Human phenotypes related to Thrombocytopenia 3:

32
# Description HPO Frequency HPO Source Accession
1 abnormal bleeding 32 HP:0001892
2 abnormality of the skeletal system 32 HP:0000924
3 thrombocytopenia 32 HP:0001873
4 epistaxis 32 HP:0000421
5 decreased mean platelet volume 32 HP:0005537

UMLS symptoms related to Thrombocytopenia 3:


petechiae of skin

Drugs & Therapeutics for Thrombocytopenia 3

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

Genetic Tests for Thrombocytopenia 3

Genetic tests related to Thrombocytopenia 3:

# Genetic test Affiliating Genes
1 Thrombocytopenia 3 29 FYB1

Anatomical Context for Thrombocytopenia 3

MalaCards organs/tissues related to Thrombocytopenia 3:

41
Skin

Publications for Thrombocytopenia 3

Variations for Thrombocytopenia 3

ClinVar genetic disease variations for Thrombocytopenia 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FYB1 NM_001243093.1(FYB1): c.1415_1416delAT (p.Tyr472Terfs) deletion Pathogenic rs1060505056 GRCh37 Chromosome 5, 39138767: 39138768
2 FYB1 NM_001243093.1(FYB1): c.1415_1416delAT (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

Expression for Thrombocytopenia 3

Search GEO for disease gene expression data for Thrombocytopenia 3.

Pathways for Thrombocytopenia 3

GO Terms for Thrombocytopenia 3

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

Sources for Thrombocytopenia 3

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
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