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 Immune diseases Bone 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	10.1

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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	A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia. ( 30051457 )	Uchiyama Y...Mizuguchi T	2018
2	Non-transient "self-sustaining" heparin-induced thrombocytopenia: 4-year persistence of a platelet-activating PF4/heparin-antibody status without heparin exposure. ( 24246163 )	Birschmann I...Koster A	2014
3	Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics. ( 24326104 )	De Rocco D...Savoia A	2014
4	A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. ( 18345000 )	Morison IM...Ledgerwood EC	2008

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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.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
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

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⁷⁴ UMLS

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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