Thrombocytopenia 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Thrombocytopenia 4

MalaCards integrated aliases for Thrombocytopenia 4:

Name: Thrombocytopenia 4 ⁵⁸ ⁷⁶ ³⁰ ¹³ ⁶ ⁷⁴

Thc4 ⁵⁸ ⁷⁶

Thrombocytopenia, Autosomal Dominant, 4 ⁵⁸

Thrombocytopenia Autosomal Dominant 4 ⁷⁶

Thrombocytopenia, Type 4 ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

Miscellaneous:
two unrelated families have been reported (last curated february 2015)

HPO:

³³

thrombocytopenia 4:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 612004

MeSH ⁴⁵ D013921

MedGen ⁴³ C2677608

SNOMED-CT via HPO ⁷⁰ 263681008 302215000 415116008

UMLS ⁷⁴ C2677608

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Summaries for Thrombocytopenia 4

UniProtKB/Swiss-Prot : ⁷⁶ Thrombocytopenia 4: 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.

MalaCards based summary : Thrombocytopenia 4, also known as thc4, is related to thrombocytopenia. An important gene associated with Thrombocytopenia 4 is CYCS (Cytochrome C, Somatic). Related phenotype is thrombocytopenia.

Description from OMIM: 612004

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Related Diseases for Thrombocytopenia 4

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

Diseases related to Thrombocytopenia 4 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	thrombocytopenia	10.2

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Symptoms & Phenotypes for Thrombocytopenia 4

Human phenotypes related to Thrombocytopenia 4:

³³

#	Description	HPO Frequency	HPO Source Accession
1	thrombocytopenia ³³		HP:0001873

Symptoms via clinical synopsis from OMIM:

⁵⁸

Hematology:
thrombocytopenia, mild
normal platelet size and morphology
no increased bleeding tendency

Clinical features from OMIM:

612004

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Drugs & Therapeutics for Thrombocytopenia 4

Search Clinical Trials , NIH Clinical Center for Thrombocytopenia 4

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Genetic Tests for Thrombocytopenia 4

Genetic tests related to Thrombocytopenia 4:

#	Genetic test	Affiliating Genes
1	Thrombocytopenia 4 ³⁰	CYCS

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Anatomical Context for Thrombocytopenia 4

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Publications for Thrombocytopenia 4

Articles related to Thrombocytopenia 4:

#	Title	Authors	Year
1	Non-transient &quot;self-sustaining&quot; heparin-induced thrombocytopenia: 4-year persistence of a platelet-activating PF4/heparin-antibody status without heparin exposure. ( 24246163 )	Birschmann I....Koster A.	2013

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Genes for Thrombocytopenia 4

Genes related to Thrombocytopenia 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CYCS	Cytochrome C, Somatic	Protein Coding	1326.63	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	18345000 24326104 30051457

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Variations for Thrombocytopenia 4

UniProtKB/Swiss-Prot genetic disease variations for Thrombocytopenia 4:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	CYCS	p.Gly42Ser	VAR_044450	rs121918552

ClinVar genetic disease variations for Thrombocytopenia 4:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CYCS	NM_018947.5(CYCS): c.145T> C (p.Tyr49His)	single nucleotide variant	Pathogenic	rs886037737	GRCh37	Chromosome 7, 25163594: 25163594
2	CYCS	NM_018947.5(CYCS): c.145T> C (p.Tyr49His)	single nucleotide variant	Pathogenic	rs886037737	GRCh38	Chromosome 7, 25123975: 25123975
3	CYCS	NM_018947.5(CYCS): c.124G> A (p.Gly42Ser)	single nucleotide variant	Pathogenic	rs121918552	GRCh37	Chromosome 7, 25163615: 25163615
4	CYCS	NM_018947.5(CYCS): c.124G> A (p.Gly42Ser)	single nucleotide variant	Pathogenic	rs121918552	GRCh38	Chromosome 7, 25123996: 25123996
5	CYCS	NM_018947.5(CYCS): c.301_303delAAA (p.Lys101del)	deletion	Pathogenic		GRCh38	Chromosome 7, 25123716: 25123718
6	CYCS	NM_018947.5(CYCS): c.301_303delAAA (p.Lys101del)	deletion	Pathogenic		GRCh37	Chromosome 7, 25163335: 25163337

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Expression for Thrombocytopenia 4

Search GEO for disease gene expression data for Thrombocytopenia 4.

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Pathways for Thrombocytopenia 4

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GO Terms for Thrombocytopenia 4

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Sources for Thrombocytopenia 4

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 4 (THC4)

Aliases & Classifications for Thrombocytopenia 4

MalaCards integrated aliases for Thrombocytopenia 4:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Thrombocytopenia 4

Related Diseases for Thrombocytopenia 4

Diseases in the Thrombocytopenia family:

Diseases related to Thrombocytopenia 4 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Thrombocytopenia 4

Human phenotypes related to Thrombocytopenia 4:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Thrombocytopenia 4

Genetic Tests for Thrombocytopenia 4

Genetic tests related to Thrombocytopenia 4:

Anatomical Context for Thrombocytopenia 4

Publications for Thrombocytopenia 4

Articles related to Thrombocytopenia 4:

Genes for Thrombocytopenia 4

Genes related to Thrombocytopenia 4 (1 elite genes):

Variations for Thrombocytopenia 4

UniProtKB/Swiss-Prot genetic disease variations for Thrombocytopenia 4:

ClinVar genetic disease variations for Thrombocytopenia 4:

Expression for Thrombocytopenia 4

Pathways for Thrombocytopenia 4

GO Terms for Thrombocytopenia 4

Sources for Thrombocytopenia 4