THC3
MCID: THR111
MIFTS: 29

Thrombocytopenia 3 (THC3)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Infectious diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Thrombocytopenia 3

MalaCards integrated aliases for Thrombocytopenia 3:

Name: Thrombocytopenia 3 57 73 28 5 71
Thc3 57 73
Thrombocytopenia, Autosomal Recessive, 3 57

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in first months or years of life
two unrelated consanguineous families have been reported (last curated april 2017)


Classifications:



External Ids:

OMIM® 57 273900
OMIM Phenotypic Series 57 PS313900
MeSH 43 D013921
MedGen 40 C2678311
UMLS 71 C2678311

Summaries for Thrombocytopenia 3

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 08-Dec-2022)

MalaCards based summary: Thrombocytopenia 3, also known as thc3, is related to amegakaryocytic thrombocytopenia, congenital and aplastic anemia, and has symptoms including petechiae of skin An important gene associated with Thrombocytopenia 3 is FYB1 (FYN Binding Protein 1). Affiliated tissues include bone marrow, skin and bone, and related phenotypes are thrombocytopenia and epistaxis

UniProtKB/Swiss-Prot: 73 A form of thrombocytopenia, a hematologic disorder 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

Human phenotypes related to Thrombocytopenia 3:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thrombocytopenia 30 Very rare (1%) HP:0001873
2 epistaxis 30 Very rare (1%) HP:0000421
3 petechiae 30 Very rare (1%) HP:0000967
4 decreased mean platelet volume 30 Very rare (1%) HP:0005537

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

UMLS symptoms related to Thrombocytopenia 3:


petechiae of skin

Drugs & Therapeutics for Thrombocytopenia 3

Search Clinical Trials, NIH Clinical Center for Thrombocytopenia 3

Genetic Tests for Thrombocytopenia 3

Genetic tests related to Thrombocytopenia 3:

# Genetic test Affiliating Genes
1 Thrombocytopenia 3 28 FYB1

Anatomical Context for Thrombocytopenia 3

Organs/tissues related to Thrombocytopenia 3:

MalaCards : Bone Marrow, Skin, Bone, Breast, Lung, Brain, T Cells
ODiseA: Blood And Bone Marrow

Publications for Thrombocytopenia 3

Articles related to Thrombocytopenia 3:

(show top 50) (show all 123)
# Title Authors PMID Year
1
Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small-platelet thrombocytopenia. 57 5
25876182 2015
2
Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report. 57 5
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
Talaromyces marneffei Infections in 8 Chinese Children with Inborn Errors of Immunity. 62
36180657 2022
9
Phase II study of Disulfiram and Cisplatin in Refractory Germ Cell Tumors. The GCT-SK-006 phase II trial. 62
35763178 2022
10
Mast cell neoplasm: a challenging pathological diagnosis. 62
35550832 2022
11
Primary splenic histiocytic sarcoma successfully treated with splenectomy: a case report and literature review. 62
35669904 2022
12
Blockade of alpha2-adrenergic receptors in the caudal raphe region enhances the renal sympathetic nerve activity response to acute intermittent hypercapnia in rats. 62
35043650 2022
13
Malignant glioma subset from actuate 1801: Phase I/II study of 9-ING-41, GSK-3β inhibitor, monotherapy or combined with chemotherapy for refractory malignancies. 62
35402914 2022
14
Clinical Profile and Outcome Following Exchange Transfusion for Neonatal Jaundice in a Tertiary Care Centre. 62
35084035 2022
15
E2112: Randomized Phase III Trial of Endocrine Therapy Plus Entinostat or Placebo in Hormone Receptor-Positive Advanced Breast Cancer. A Trial of the ECOG-ACRIN Cancer Research Group. 62
34357781 2021
16
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. 62
32285998 2020
17
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. 62
31896019 2020
18
Safety and Efficacy of Chemotherapy Combined with Anlotinib Plus Anlotinib Maintenance in Chinese Patients with Advanced/Metastatic Soft Tissue Sarcoma. 62
32110053 2020
19
A Phase II, Single-Arm Study of Apatinib and Oral Etoposide in Heavily Pre-Treated Metastatic Breast Cancer. 62
33659204 2020
20
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. 62
31444250 2019
21
Comparative measurement of FeLV load in hemolymphatic tissues of cats with hematologic cytopenias. 62
31856815 2019
22
Efficacy and safety of bevacizumab combined with chemotherapy in symptomatic brain metastases from lung adenocarcinoma: a retrospective analysis. 62
31903262 2019
23
Lenalidomide plus rituximab (R2 ) in previously untreated marginal zone lymphoma: subgroup analysis and long-term follow-up of an open-label phase 2 trial. 62
30919940 2019
24
Nivolumab for Relapsed/Refractory Diffuse Large B-Cell Lymphoma in Patients Ineligible for or Having Failed Autologous Transplantation: A Single-Arm, Phase II Study. 62
30620669 2019
25
Five-year follow-up of lenalidomide plus rituximab as initial treatment of mantle cell lymphoma. 62
30181173 2018
26
Asymptomatic Lupus Cystitis with Bilateral Hydronephrosis. 62
30345278 2018
27
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. 62
30159128 2018
28
Efficacy and safety of apatinib in patients with advanced nonsmall cell lung cancer that failed prior chemotherapy or EGFR-TKIs: A pooled analysis. 62
30170427 2018
29
Extra-criteria manifestations of antiphospholipid syndrome: Risk assessment and management. 62
29395258 2018
30
Tolerability of obinutuzumab therapy in patients with rituximab-relapsed/refractory B-cell malignancies - a retrospective single center cohort study. 62
30042825 2018
31
Phase I trial of dasatinib, lenalidomide, and temozolomide in children with relapsed or refractory central nervous system tumors. 62
29427149 2018
32
Pre-operative hyperfractionated concurrent radiochemotherapy for locally advanced rectal cancers: a phase II clinical study. 62
28466686 2017
33
Phase 1 study of ixazomib alone or combined with lenalidomide-dexamethasone in Japanese patients with relapsed/refractory multiple myeloma. 62
28000099 2017
34
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. 62
27525588 2016
35
Incidence of Zika Virus Disease by Age and Sex - Puerto Rico, November 1, 2015-October 20, 2016. 62
27832051 2016
36
Significance of Bioindicators for Early Predictions on Diagnosis and Therapy of Irradiated Minipigs. 62
27356060 2016
37
Anesthetic considerations in HELLP syndrome. 62
26446688 2016
38
Envenomation by the invasive Pterois volitans species (lionfish) in the French West Indies--a two-year prospective study in Martinique. 62
26857556 2016
39
Bortezomib use in a pediatric cardiac transplant center. 62
24931171 2014
40
Dual inhibition of the vascular endothelial growth factor pathway: a phase 1 trial evaluating bevacizumab and AZD2171 (cediranib) in patients with advanced solid tumors. 62
24752867 2014
41
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. 62
23111359 2014
42
[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]. 62
24331798 2013
43
One-day DCF regimen in patients with metastatic gastric cancer. 62
23748805 2013
44
Expected benefits of topotecan combined with lapatinib in recurrent ovarian cancer according to biological profile: a phase 2 trial. 62
23027040 2012
45
Phase II study of Gleevec plus hydroxyurea in adults with progressive or recurrent low-grade glioma. 62
22371319 2012
46
A phase II evaluation of trabectedin in the treatment of advanced, persistent, or recurrent uterine leiomyosarcoma: a gynecologic oncology group study. 62
21996263 2012
47
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. 62
21908572 2011
48
Frequency of maternal mortality and morbidity in pregnancy-induced hypertension. 62
23472415 2011
49
[Multicenter phase II study of pre-administered uracil/tegafur (UFT) plus gemcitabine for unresectable/recurrent pancreatic cancer]. 62
21566438 2011
50
Tolerability of metronomic administration of lomustine in dogs with cancer. 62
21314727 2011

Variations for Thrombocytopenia 3

ClinVar genetic disease variations for Thrombocytopenia 3:

5
# 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.1385_1386del (p.Thr461_Tyr462insTer) MICROSAT 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 rs1047993806 GRCh37: 5:39110459-39110459
GRCh38: 5:39110357-39110357

Expression for Thrombocytopenia 3

Search GEO for disease gene expression data for Thrombocytopenia 3.

Pathways for Thrombocytopenia 3

GO Terms for Thrombocytopenia 3

Sources for Thrombocytopenia 3

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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