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

Sources

Aliases & Classifications for Thrombocytopenia 5

MalaCards integrated aliases for Thrombocytopenia 5:

Name: Thrombocytopenia 5 ⁵⁸ ⁷⁶ ³⁰ ⁶ ⁷⁴

Thrombocytopenia 5 with Increased Susceptibility to Malignancy ⁵⁸ ⁷⁶

Thrombocytopenia, Autosomal Dominant, 5 ⁵⁸ ⁷⁶

Thc5 ⁵⁸ ⁷⁶

Thrombocytopenia 5 with Increased Malignancy ⁵⁸

Thrombocytopenia, Type 5 ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

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

HPO:

³³

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 ⁵⁸ 616216

MeSH ⁴⁵ D013921

MedGen ⁴³ C4015537 CN225711

SNOMED-CT via HPO ⁷⁰ 12441001 165397008 165517008 more

UMLS ⁷⁴ C4015537

Sources

Summaries for Thrombocytopenia 5

OMIM : ⁵⁸ 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 Temozolomide and Olive have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are anemia and neutropenia

UniProtKB/Swiss-Prot : ⁷⁶ 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.

Sources

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

Sources

Symptoms & Phenotypes for Thrombocytopenia 5

Human phenotypes related to Thrombocytopenia 5:

³³ (show all 6)

#	Description	HPO Frequency	HPO Source Accession
1	anemia ³³	occasional (7.5%)	HP:0001903
2	neutropenia ³³	occasional (7.5%)	HP:0001875
3	thrombocytopenia ³³		HP:0001873
4	epistaxis ³³		HP:0000421
5	bruising susceptibility ³³		HP:0000978
6	petechiae ³³		HP:0000967

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

UMLS symptoms related to Thrombocytopenia 5:

petechiae of skin

Sources

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

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

Temozolomide

Témozolomide

Temozolomide (JAN/USAN/INN)

Temozolomide [INN:BAN]

Temozolomidum

Temozolomidum [Latin]

TL8005593

TMZ

TMZ-Bioshuttle

UNII-YF1K15M17Y

ZINC01482184

2

Olive

Phase 1, Phase 2

3

Anti-Retroviral Agents

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	Completed	NCT01826188	Phase 1, Phase 2	THC 5mg/ml and CBS 50mg/ml;Placebo
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

Sources

Genetic Tests for Thrombocytopenia 5

Genetic tests related to Thrombocytopenia 5:

#	Genetic test	Affiliating Genes
1	Thrombocytopenia 5 ³⁰	ETV6

Sources

Anatomical Context for Thrombocytopenia 5

MalaCards organs/tissues related to Thrombocytopenia 5:

⁴²

Skin

Sources

Publications for Thrombocytopenia 5

Articles related to Thrombocytopenia 5:

#	Title	Authors	Year
1	Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. ( 25807284 )	Noetzli L...Di Paola J	2015
2	Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. ( 25581430 )	Zhang MY...Shimamura A	2015

Sources

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	1327.2	Molecular basis known ⁵⁸ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	25581430 25807284

Sources

Variations for Thrombocytopenia 5

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

⁷⁶

#	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.614del (p.Leu205Argfs)	deletion	Pathogenic	rs1555144911	GRCh38	Chromosome 12, 11869574: 11869574
10	ETV6	NM_001987.4(ETV6): c.614del (p.Leu205Argfs)	deletion	Pathogenic	rs1555144911	GRCh37	Chromosome 12, 12022508: 12022508

Sources

Expression for Thrombocytopenia 5

Search GEO for disease gene expression data for Thrombocytopenia 5.

Sources

Pathways for Thrombocytopenia 5

Sources

GO Terms for Thrombocytopenia 5

Sources

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 EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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

Human phenotypes related to Thrombocytopenia 5:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Articles related to 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