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 ⁵⁷ ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Thc4 ⁵⁷ ⁷⁵

Thrombocytopenia, Autosomal Dominant, 4 ⁵⁷

Thrombocytopenia Autosomal Dominant 4 ⁷⁵

Thrombocytopenia, Type 4 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

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

HPO:

³²

thrombocytopenia 4:
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 612004

MedGen ⁴² C2677608

MeSH ⁴⁴ D013921

SNOMED-CT via HPO ⁶⁹ 263681008 302215000 415116008

UMLS ⁷³ C2677608

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Summaries for Thrombocytopenia 4

UniProtKB/Swiss-Prot : ⁷⁵ 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). Affiliated tissues include bone, and 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	10.1

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Symptoms & Phenotypes for Thrombocytopenia 4

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Clinical features from OMIM:

612004

Human phenotypes related to Thrombocytopenia 4:

³²

#	Description	HPO Frequency	HPO Source Accession
1	thrombocytopenia ³²		HP:0001873

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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 ²⁹	CYCS

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Anatomical Context for Thrombocytopenia 4

MalaCards organs/tissues related to Thrombocytopenia 4:

⁴¹

Bone

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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	1326.64	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	18345000 24326104

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Variations for Thrombocytopenia 4

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

⁷⁵

#	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.124G> A (p.Gly42Ser)	single nucleotide variant	Pathogenic	rs121918552	GRCh37	Chromosome 7, 25163615: 25163615
2	CYCS	NM_018947.5(CYCS): c.124G> A (p.Gly42Ser)	single nucleotide variant	Pathogenic	rs121918552	GRCh38	Chromosome 7, 25123996: 25123996
3	CYCS	NM_018947.5(CYCS): c.145T> C (p.Tyr49His)	single nucleotide variant	Pathogenic	rs886037737	GRCh37	Chromosome 7, 25163594: 25163594
4	CYCS	NM_018947.5(CYCS): c.145T> C (p.Tyr49His)	single nucleotide variant	Pathogenic	rs886037737	GRCh38	Chromosome 7, 25123975: 25123975

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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 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 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Thrombocytopenia 4:

Drugs & Therapeutics for Thrombocytopenia 4

Genetic Tests for Thrombocytopenia 4

Genetic tests related to Thrombocytopenia 4:

Anatomical Context for Thrombocytopenia 4

MalaCards organs/tissues related to 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