Thrombocytopenia 5 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Thrombocytopenia 5

MalaCards integrated aliases for Thrombocytopenia 5:

Name: Thrombocytopenia 5 ⁵⁷ ⁷⁵ ²⁹ ⁶ ⁷³

Thrombocytopenia 5 with Increased Susceptibility to Malignancy ⁵⁷ ⁷⁵

Thrombocytopenia, Autosomal Dominant, 5 ⁵⁷ ⁷⁵

Thc5 ⁵⁷ ⁷⁵

Thrombocytopenia 5 with Increased Malignancy ⁵⁷

Thrombocytopenia, Type 5 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
onset of thrombocytopenia in early childhood
onset of malignancy can occur throughout life

HPO:

³²

thrombocytopenia 5:
Inheritance autosomal dominant 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 ⁵⁷ 616216

MedGen ⁴² C4015537 CN225711

MeSH ⁴⁴ D013921

SNOMED-CT via HPO ⁶⁹ 263681008 12441001 249366005 more

UMLS ⁷³ C4015537

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Summaries for Thrombocytopenia 5

OMIM : ⁵⁷ Thrombocytopenia-5 is an autosomal dominant disorder characterized by a decreased number of platelets and a bleeding tendency. Affected individuals have an increased susceptibility to the development of hematologic malignancies, and possibly to solid neoplasms. Thrombocytopenia is usually apparent in early childhood, whereas the development of malignancy can occur throughout life (summary by Zhang et al., 2015). For a discussion of genetic heterogeneity of thrombocytopenia, see 313900. (616216)

MalaCards based summary : Thrombocytopenia 5, is also known as thrombocytopenia 5 with increased susceptibility to malignancy, and has symptoms including petechiae of skin An important gene associated with Thrombocytopenia 5 is ETV6 (ETS Variant 6). The drugs Dacarbazine and Temozolomide have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related phenotypes are anemia and thrombocytopenia

UniProtKB/Swiss-Prot : ⁷⁵ Thrombocytopenia 5: 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. THC5 is an autosomal dominant disorder, associated with an increased susceptibility to the development of hematologic and solid malignancies.

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Related Diseases for Thrombocytopenia 5

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

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Symptoms & Phenotypes for Thrombocytopenia 5

Symptoms via clinical synopsis from OMIM:

⁵⁷

Hematology:
thrombocytopenia
anemia (in some patients)
neutropenia (in some patients)

Skin Nails Hair Skin:
petechiae
easy bruising

Head And Neck Nose:
epistaxis

Neoplasia:
increased susceptibility to hematologic malignancies

Clinical features from OMIM:

616216

Human phenotypes related to Thrombocytopenia 5:

³² (show all 6)

#	Description	HPO Frequency	HPO Source Accession
1	anemia ³²	occasional (7.5%)	HP:0001903
2	thrombocytopenia ³²		HP:0001873
3	epistaxis ³²		HP:0000421
4	neutropenia ³²	occasional (7.5%)	HP:0001875
5	bruising susceptibility ³²		HP:0000978
6	petechiae ³²		HP:0000967

UMLS symptoms related to Thrombocytopenia 5:

petechiae of skin

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Drugs & Therapeutics for Thrombocytopenia 5

Drugs for Thrombocytopenia 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Dacarbazine

Approved, Investigational

Phase 1, Phase 2

4342-03-4

5351166

Synonyms:

(5E)-5-(dimethylaminohydrazinylidene)imidazole-4-carboxamide

(5Z)-5-(dimethylaminohydrazinylidene)imidazole-4-carboxamide

(Dimethyltriazeno)imidazolecarboxamide

37626-23-6

4-(3,3-dimethyl-1-triazeno)imidazole-5-carboxamide

4-(3,3-Dimethyl-1-triazeno)imidazole-5-carboxamide

4-(3,3-Dimethyltriazeno)imidazole-5-carboxamide

4(5)-(3,3-Dimethyl-1-triazeno)imidazole-4-carboxamide

4-(5)-(3,3-dimethyl-1-triazeno)imidazole-5(4)-carboxamide

4(5)-(3,3-Dimethyl-1-triazeno)imidazole-5(4)-carboxamide

4-(5)-(3,3-Dimethyl-1-triazeno)imidazole-5(4)-carboxamide

4-(Dimethyltriazeno)imidazole-5-c arboxamide

4-(dimethyltriazeno)imidazole-5-carboxamide

4-(dimethyltriazeno)Imidazole-5-carboxamide

4-(Dimethyltriazeno)imidazole-5-carboxamide

4-(or 5)-(3,3-Dimethyl-1-triazeno)imidazole-5(or 4)-carboxamide

4-[(1E)-3,3-Dimethyltriaz-1-en-1-yl]-1H-imidazole-5-carboxamide

4-[3,3-dimethyltriaz-1-en-1-yl]-1H-imidazole-5-carboxamide

4342-03-4

5-(3,3-dimethyl-1-triazeno)imidazole-4-carboxamide

5-(3,3-Dimethyl-1-triazeno)imidazole-4-carboxamide

5-(3,3-Dimethyl-1-triazenyl)-1H-imidazole-4-carboxamide

5-(3,3-Dimethyl-1-triazenyl)imidazole-4-carboxamide

5-(3,3-Dimethyltri azeno)imidazole-4-carboxamide

5-(3,3-dimethyltriaz-1-en-1-yl)-1H-imidazole-4-carboxamide

5-(3,3-Dimethyltriazeno)-imidazole-4-carbamide

5-(3,3-dimethyltriazeno)imidazole-4-carboxamide

5-(3,3-dimethyltriazeno)Imidazole-4-carboxamide

5-(3,3-Dimethyltriazeno)imidazole-4-carboxamide

5-(dimethylaminohydrazinylidene)imidazole-4-carboxamide

5-(Dimethyltriazeno)-4-imidazolecarboxamide

5-(dimethyltriazeno)imidazole-4-carboxamide

5-(dimethyltriazeno)Imidazole-4-carboxamide

5-(Dimethyltriazeno)imidazole-4-carboxamide

5-(Dimethyltriazeno)imidazole-4-carboximide

5(or 4)-(dimethyltriazeno)imidazol e-4(or 5)-carboxamide

5(or 4)-(dimethyltriazeno)imidazole-4(or 5)-carboxamide

5-[3,3-Dimethyl-1-triazenyl]imidazole-4-carboxamide

94361-71-4

AC1NQXVV

AC1NS01W

AC1NS4BN

AI3-52825

Biocarbazin

Biocarbazine

Biocarbazine R

BPBio1_000428

BRD-K35520305-001-07-8

BSPBio_000388

BSPBio_002091

C6H10N6O

Carboxamide, Dimethyl Imidazole

CAS-891986

CCRIS 190

CHEBI:4305

CHEMBL476

CID5281007

CID5351166

CID5353562

D00288

D003606

D2390_SIGMA

D3634

Dacarbazin

Dacarbazina

dacarbazine

Dacarbazine

Dacarbazine (JAN/USP/INN)

Dacarbazine [USAN:INN:BAN:JAN]

Dacarbazino

Dacarbazino [INN-Spanish]

Dacarbazinum

Dacarbazinum [INN-Latin]

Dacatic

DB00851

Decarbazine

Deticene

DIC

Dimethyl Imidazole Carboxamide

Dimethyl Triazeno Imidazole Carboxamide

Dimethyltriazenoimidazolecarboxamide

Di-methyl-triazenoimidazolecarboxamide

Di-me-triazenoimidazolecarboxamide

DivK1c_000326

DTCI

DTIC

DTIC Dome

DTIC, DTIC-Dome, Dacarbazine

Dtic-dome

Dtic-Dome

DTICDome

DTIC-Dome

Dtic-Dome (TN)

DTIE

EINECS 224-396-1

HE1150000

HMS1569D10

HMS2090A20

HMS2091I20

HMS501A08

HSDB 3219

I06-2280

I14-1659

ICDMT

ICDT

IDI1_000326

Imidazole carboxamide

Imidazole Carboxamide

Imidazole Carboxamide, Dimethyl

KBio1_000326

KBio2_001364

KBio2_003932

KBio2_006500

KBio3_001311

KBioGR_000896

KBioSS_001364

LS-119

MLS001332543

MLS001332544

MolPort-003-666-153

MolPort-003-846-120

MolPort-006-709-420

NCGC00016986-01

NCGC00091861-01

NCGC00091861-02

NCGC00091861-03

NCGC00091861-04

NCI60_004053

NCI-C04717

NCIMech_000261

NINDS_000326

NIOSH/HE1150000

NPFAPI-05

NSC 45388

NSC45388

NSC-45388

Prestwick_904

Prestwick0_000574

Prestwick1_000574

Prestwick2_000574

Prestwick3_000574

S1221_Selleck

SMP2_000251

SMR000857131

SPBio_001075

SPBio_002607

Spectrum_000884

SPECTRUM1500218

Spectrum2_001148

Spectrum3_000366

Spectrum4_000308

Spectrum5_000823

ST51014976

UNII-7GR28W0FJI

WLN: T5M CNJ DVZ ENUNN1&1

2

Temozolomide

Approved, Investigational

Phase 1, Phase 2

85622-93-1

5394

Synonyms:

3,4-dihydro-3-methyl-4-oxoimidazo(5,1-d)-1,2,3,5-tetrazine-8-carboxamide

3,4-dihydro-3-Methyl-4-oxoimidazo(5,1-D)-1,2,3,5-tetrazine-8-carboxamide

3,4-Dihydro-3-methyl-4-oxoimidazo(5,1-d)-1,2,3,5-tetrazine-8-carboxamide

3,4-dihydro-3-methyl-4-oxoimidazo(5,1-d)-as-tetrazine-8-carboxamide

3,4-dihydro-3-Methyl-4-oxoimidazo(5,1-D)-as-tetrazine-8-carboxamide

3,4-Dihydro-3-methyl-4-oxoimidazo(5,1-d)-as-tetrazine-8-carboxamide

3-methyl-4-oxo-3,4-dihydroimidazo(5,1-d)(1,2,3,5)tetrazine-8-carboxamide

3-Methyl-4-oxo-3,4-dihydroimidazo(5,1-d)(1,2,3,5)tetrazine-8-carboxamide

3-Methyl-4-oxo-3,4-dihydroimidazo(5,1-D)(1,2,3,5)tetrazine-8-carboxamide

3-Methyl-4-oxo-3,4-dihydroimidazo[5,1-d][1,2,3,5]tetraazine-8-carboxamide

3-methyl-4-oxo-3,4-dihydroimidazo[5,1-d][1,2,3,5]tetrazine-8-carboxamide

3-methyl-4-oxoimidazo[5,1-d][1,2,3,5]tetrazine-8-carboxamide

85622-93-1

8-carbamoyl-3-methylimidazo(5,1-d)-1,2,3,5-tetrazin-4(3H)-one

8-Carbamoyl-3-methylimidazo(5,1-d)-1,2,3,5-tetrazin-4(3H)-one

8-Carbamoyl-3-methylimidazo(5,1-D)-1,2,3,5-tetrazin-4(3H)-one

AC1L1K9B

AC-758

BIDD:GT0204

Bio-0147

BRN 5547136

C047246

C6H6N6O2

CCRG 81045

CCRG-81045

CCRIS 8996

CHEBI:153686

CHEMBL810

CID5394

CPD000466338

D06067

DB00853

Essex brand of temozolomide

HMS2051O12

HMS2090B08

I06-0149

I14-1943

LS-80558

M B 39831

m & b 39831

M & B 39831

m And b 39831

m And b-39831

M&B 39831

M&B-39831

M-39831

MB 39831

Methazolastone

MLS000759447

MLS001424028

MLS002701861

NCGC00167429-01

NCGC00167429-02

NCI60_003316

NSC 362856

NSC362856

NSC-362856

SAM001246636

Sch 52365

SCH 52365

Sch-52365

Schering brand of temozolomide

Schering-Plough brand of temozolomide

SMR000466338

STK623541

Temodal

Temodal (TN)

Temodar

Temozolamide

Temozolodida

Temozolodida [Spanish]

Temozolomid

Temozolomida

temozolomide

Témozolomide

Temozolomide (JAN/USAN/INN)

Temozolomide [INN:BAN]

Temozolomidum

Temozolomidum [Latin]

TL8005593

TMZ

TMZ-Bioshuttle

UNII-YF1K15M17Y

ZINC01482184

3

Olive

Phase 1, Phase 2

4

Alkylating Agents

Phase 1, Phase 2

5

Antineoplastic Agents, Alkylating

Phase 1, Phase 2

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Combined THC and CBD Drops for Treatment of Crohn's Disease	Unknown status	NCT01826188	Phase 1, Phase 2	THC 5 mg/ml and CBD 50 mg/ml.
2	Cannabinoids in PLWHIV on Effective ART	Not yet recruiting	NCT03550352	Phase 2	Low CBD dose TN-CT11LM oral capsules(THC2.5 mg/CBD2.5 mg);High CBD dose TN-TC19LM oral capsules (THC 5 mg / CBD 45 mg)
3	TN-TC11G (THC+CBD) Combination With Temozolomide and Radiotherapy in Patients With Newly-diagnosed Glioblastoma	Not yet recruiting	NCT03529448	Phase 1, Phase 2	TN-TC11G;Temozolomide Oral Product

Search NIH Clinical Center for Thrombocytopenia 5

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Genetic Tests for Thrombocytopenia 5

Genetic tests related to Thrombocytopenia 5:

#	Genetic test	Affiliating Genes
1	Thrombocytopenia 5 ²⁹	ETV6

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Anatomical Context for Thrombocytopenia 5

MalaCards organs/tissues related to Thrombocytopenia 5:

⁴¹

Skin, Bone

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Publications for Thrombocytopenia 5

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Genes for Thrombocytopenia 5

Genes related to Thrombocytopenia 5 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ETV6	ETS Variant 6	Protein Coding	1327.12	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	25581430 25807284

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Variations for Thrombocytopenia 5

UniProtKB/Swiss-Prot genetic disease variations for Thrombocytopenia 5:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	ETV6	p.Pro214Leu	VAR_073322	rs724159947
2	ETV6	p.Arg369Gln	VAR_073323	rs724159946
3	ETV6	p.Arg399Cys	VAR_073324	rs724159945

ClinVar genetic disease variations for Thrombocytopenia 5:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ETV6	NM_001987.4(ETV6): c.641C> T (p.Pro214Leu)	single nucleotide variant	Pathogenic/Likely pathogenic	rs724159947	GRCh38	Chromosome 12, 11869601: 11869601
2	ETV6	NM_001987.4(ETV6): c.641C> T (p.Pro214Leu)	single nucleotide variant	Pathogenic/Likely pathogenic	rs724159947	GRCh37	Chromosome 12, 12022535: 12022535
3	ETV6	NM_001987.4(ETV6): c.1106G> A (p.Arg369Gln)	single nucleotide variant	Pathogenic	rs724159946	GRCh38	Chromosome 12, 11884541: 11884541
4	ETV6	NM_001987.4(ETV6): c.1106G> A (p.Arg369Gln)	single nucleotide variant	Pathogenic	rs724159946	GRCh37	Chromosome 12, 12037475: 12037475
5	ETV6	NM_001987.4(ETV6): c.1195C> T (p.Arg399Cys)	single nucleotide variant	Pathogenic	rs724159945	GRCh37	Chromosome 12, 12038902: 12038902
6	ETV6	NM_001987.4(ETV6): c.1195C> T (p.Arg399Cys)	single nucleotide variant	Pathogenic	rs724159945	GRCh38	Chromosome 12, 11885968: 11885968
7	ETV6	NM_001987.4(ETV6): c.1252A> G (p.Arg418Gly)	single nucleotide variant	Pathogenic	rs786205226	GRCh37	Chromosome 12, 12038959: 12038959
8	ETV6	NM_001987.4(ETV6): c.1252A> G (p.Arg418Gly)	single nucleotide variant	Pathogenic	rs786205226	GRCh38	Chromosome 12, 11886025: 11886025
9	ETV6	NM_001987.4(ETV6): c.614delT (p.Leu205Argfs)	deletion	Pathogenic		GRCh38	Chromosome 12, 11869574: 11869574
10	ETV6	NM_001987.4(ETV6): c.614delT (p.Leu205Argfs)	deletion	Pathogenic		GRCh37	Chromosome 12, 12022508: 12022508

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Expression for Thrombocytopenia 5

Search GEO for disease gene expression data for Thrombocytopenia 5.

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Pathways for Thrombocytopenia 5

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GO Terms for Thrombocytopenia 5

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Sources for Thrombocytopenia 5

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

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 SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Thrombocytopenia 5 (THC5)

Aliases & Classifications for Thrombocytopenia 5

MalaCards integrated aliases for Thrombocytopenia 5:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Thrombocytopenia 5

Related Diseases for Thrombocytopenia 5

Diseases in the Thrombocytopenia family:

Symptoms & Phenotypes for Thrombocytopenia 5

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Thrombocytopenia 5:

UMLS symptoms related to Thrombocytopenia 5:

Drugs & Therapeutics for Thrombocytopenia 5

Drugs for Thrombocytopenia 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Thrombocytopenia 5

Genetic tests related to Thrombocytopenia 5:

Anatomical Context for Thrombocytopenia 5

MalaCards organs/tissues related to Thrombocytopenia 5:

Publications for Thrombocytopenia 5

Genes for Thrombocytopenia 5

Genes related to Thrombocytopenia 5 (1 elite genes):

Variations for Thrombocytopenia 5

UniProtKB/Swiss-Prot genetic disease variations for Thrombocytopenia 5:

ClinVar genetic disease variations for Thrombocytopenia 5:

Expression for Thrombocytopenia 5

Pathways for Thrombocytopenia 5

GO Terms for Thrombocytopenia 5

Sources for Thrombocytopenia 5