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

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 drug Olive has been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are epistaxis and petechiae

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	Myh9 Related Thrombocytopenia

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Symptoms & Phenotypes for Thrombocytopenia 5

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Nose:
epistaxis

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

Skin Nails Hair Skin:
easy bruising
petechiae

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	epistaxis ³²		HP:0000421
2	petechiae ³²		HP:0000967
3	bruising susceptibility ³²		HP:0000978
4	thrombocytopenia ³²		HP:0001873
5	neutropenia ³²	occasional (7.5%)	HP:0001875
6	anemia ³²	occasional (7.5%)	HP:0001903

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		Olive	Nutraceutical	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

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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	1352.29	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ 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