Thrombocytopenia 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Infectious diseases
Anatomical: Blood diseases Immune diseases Neuronal diseases Bone diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 273900

OMIM Phenotypic Series ⁵⁷ PS313900

MeSH ⁴³ D013921

MedGen ⁴⁰ C2678311

SNOMED-CT via HPO ⁶⁹ 12441001 249366005 271813007 more

UMLS ⁷¹ C2678311

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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.

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Related Diseases for Thrombocytopenia 3

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:

#	Related Disease	Score
1	amegakaryocytic thrombocytopenia, congenital	9.7
2	aplastic anemia	9.7
3	leukemia, acute lymphoblastic	9.7
4	pulmonary fibrosis and/or bone marrow failure, telomere-related, 2	9.7
5	thrombocytopenia	9.7
6	essential thrombocythemia	9.7

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

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Symptoms & Phenotypes for Thrombocytopenia 3

Human phenotypes related to Thrombocytopenia 3:

³⁰

#	Description	HPO 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

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Drugs & Therapeutics for Thrombocytopenia 3

Search Clinical Trials, NIH Clinical Center for Thrombocytopenia 3

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Genetic Tests for Thrombocytopenia 3

Genetic tests related to Thrombocytopenia 3:

#	Genetic test	Affiliating Genes
1	Thrombocytopenia 3 ²⁸	FYB1

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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

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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	Levin C...Shalev S	25876182	2015
2	Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report. ⁵⁷ ⁵	Hamamy H...Antonarakis SE	25516138	2014
3	Small-platelet thrombocytopenia in a family with autosomal recessive inheritance pattern. ⁵⁷	Levin C...Koren A	23650215	2013
4	Thrombocytopenia in 4 newborn siblings. ⁵⁷	Paganelli VH	5818913	1969
5	Chromosome abnormalities in constitutional aplastic anemia. ⁵⁷	Bloom GE...Diamond LK	5901871	1966
6	Familial idiopathic thrombocytopenic purpura. ⁵⁷	SCHAAR FE	13976557	1963
7	Thrombopenic purpura; report of 4 cases in one family. ⁵⁷	ROBERTS MH...SMITH MH	15410684	1950
8	Talaromyces marneffei Infections in 8 Chinese Children with Inborn Errors of Immunity. ⁶²	Wang L...Yang J	36180657	2022
9	Phase II study of Disulfiram and Cisplatin in Refractory Germ Cell Tumors. The GCT-SK-006 phase II trial. ⁶²	Mego M...Chovanec M	35763178	2022
10	Mast cell neoplasm: a challenging pathological diagnosis. ⁶²	Natal RA...Vassallo J	35550832	2022
11	Primary splenic histiocytic sarcoma successfully treated with splenectomy: a case report and literature review. ⁶²	Kobayashi M...Kosugi N	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	Madirazza K...Dogas Z	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	Odia Y...Sahebjam S	35402914	2022
14	Clinical Profile and Outcome Following Exchange Transfusion for Neonatal Jaundice in a Tertiary Care Centre. ⁶²	Ramachandran RM...Srinivasan R	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	Connolly RM...Sparano JA	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	Su JM...Blaney SM	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	Duzlu O...Inci A	31896019	2020
18	Safety and Efficacy of Chemotherapy Combined with Anlotinib Plus Anlotinib Maintenance in Chinese Patients with Advanced/Metastatic Soft Tissue Sarcoma. ⁶²	Wang HY...Liu YY	32110053	2020
19	A Phase II, Single-Arm Study of Apatinib and Oral Etoposide in Heavily Pre-Treated Metastatic Breast Cancer. ⁶²	Hu N...Yuan P	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	Yan ZX...Zhao WL	31444250	2019
21	Comparative measurement of FeLV load in hemolymphatic tissues of cats with hematologic cytopenias. ⁶²	Abdollahi-Pirbazari M...Zamani-Ahmadmahmudi M	31856815	2019
22	Efficacy and safety of bevacizumab combined with chemotherapy in symptomatic brain metastases from lung adenocarcinoma: a retrospective analysis. ⁶²	Zhan Q...Liang X	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	Becnel MR...Fowler NH	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	Ansell SM...Grigg A	30620669	2019
25	Five-year follow-up of lenalidomide plus rituximab as initial treatment of mantle cell lymphoma. ⁶²	Ruan J...Leonard JP	30181173	2018
26	Asymptomatic Lupus Cystitis with Bilateral Hydronephrosis. ⁶²	Aziza Bawazier L	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	Bruera G...Oncology Network ASL1 Abruzzo, Italy	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	Ma JT...Han CB	30170427	2018
29	Extra-criteria manifestations of antiphospholipid syndrome: Risk assessment and management. ⁶²	Radin M...Andrade D	29395258	2018
30	Tolerability of obinutuzumab therapy in patients with rituximab-relapsed/refractory B-cell malignancies - a retrospective single center cohort study. ⁶²	Pirich T...Singer J	30042825	2018
31	Phase I trial of dasatinib, lenalidomide, and temozolomide in children with relapsed or refractory central nervous system tumors. ⁶²	Robison NJ...Dhall G	29427149	2018
32	Pre-operative hyperfractionated concurrent radiochemotherapy for locally advanced rectal cancers: a phase II clinical study. ⁶²	Idasiak A...Suwinski R	28466686	2017
33	Phase 1 study of ixazomib alone or combined with lenalidomide-dexamethasone in Japanese patients with relapsed/refractory multiple myeloma. ⁶²	Suzuki K...Kase Y	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	Jimeno A...Clement PM	27525588	2016
35	Incidence of Zika Virus Disease by Age and Sex - Puerto Rico, November 1, 2015-October 20, 2016. ⁶²	Lozier M...Rivera-Garcia B	27832051	2016
36	Significance of Bioindicators for Early Predictions on Diagnosis and Therapy of Irradiated Minipigs. ⁶²	Moroni M...Abend M	27356060	2016
37	Anesthetic considerations in HELLP syndrome. ⁶²	del-Rio-Vellosillo M...Garcia-Medina JJ	26446688	2016
38	Envenomation by the invasive Pterois volitans species (lionfish) in the French West Indies--a two-year prospective study in Martinique. ⁶²	Resiere D...Mehdaoui H	26857556	2016
39	Bortezomib use in a pediatric cardiac transplant center. ⁶²	Zinn MD...Aggarwal S	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	Hong DS...Kurzrock R	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	Hong YS...Kim TW	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	Zhang Y...Hu DY	24331798	2013
43	One-day DCF regimen in patients with metastatic gastric cancer. ⁶²	Dirican A...Alacacioglu A	23748805	2013
44	Expected benefits of topotecan combined with lapatinib in recurrent ovarian cancer according to biological profile: a phase 2 trial. ⁶²	Lheureux S...Joly F	23027040	2012
45	Phase II study of Gleevec plus hydroxyurea in adults with progressive or recurrent low-grade glioma. ⁶²	Reardon DA...Friedman HS	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	Monk BJ...Hensley ML	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	Rajan A...Giaccone G	21908572	2011
48	Frequency of maternal mortality and morbidity in pregnancy-induced hypertension. ⁶²	Riaz S...Jabeen A	23472415	2011
49	[Multicenter phase II study of pre-administered uracil/tegafur (UFT) plus gemcitabine for unresectable/recurrent pancreatic cancer]. ⁶²	Nakamori S...Monden M	21566438	2011
50	Tolerability of metronomic administration of lomustine in dogs with cancer. ⁶²	Tripp CD...Bryan JN	21314727	2011

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Genes for Thrombocytopenia 3

Genes related to Thrombocytopenia 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FYB1	FYN Binding Protein 1	Protein Coding	1007.17	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ GeneCards inferred via : Disorders (show sections)	25516138 25876182

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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

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Expression for Thrombocytopenia 3

Search GEO for disease gene expression data for Thrombocytopenia 3.

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Pathways for Thrombocytopenia 3

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GO Terms for Thrombocytopenia 3

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Sources for Thrombocytopenia 3

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

THC3 MCID: THR111 MIFTS: 29	Thrombocytopenia 3 (THC3) Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Infectious diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Thrombocytopenia 3 (THC3)

Aliases & Classifications for Thrombocytopenia 3

MalaCards integrated aliases for Thrombocytopenia 3:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Thrombocytopenia 3

Related Diseases for Thrombocytopenia 3

Diseases in the Thrombocytopenia family:

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

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

Symptoms & Phenotypes for Thrombocytopenia 3

Human phenotypes related to Thrombocytopenia 3:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Thrombocytopenia 3:

Drugs & Therapeutics for Thrombocytopenia 3

Genetic Tests for Thrombocytopenia 3

Genetic tests related to Thrombocytopenia 3:

Anatomical Context for Thrombocytopenia 3

Organs/tissues related to Thrombocytopenia 3:

Publications for Thrombocytopenia 3

Articles related to Thrombocytopenia 3:

Genes for Thrombocytopenia 3

Genes related to Thrombocytopenia 3 (1 elite genes):

Variations for Thrombocytopenia 3

ClinVar genetic disease variations for Thrombocytopenia 3:

Expression for Thrombocytopenia 3

Pathways for Thrombocytopenia 3

GO Terms for Thrombocytopenia 3

Sources for Thrombocytopenia 3