THC4
MCID: THR048
MIFTS: 18

Thrombocytopenia 4 (THC4)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases

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:



External Ids:

OMIM 58 612004
MeSH 45 D013921
MedGen 43 C2677608
SNOMED-CT via HPO 70 263681008 302215000 415116008
UMLS 74 C2677608

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

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

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

Drugs & Therapeutics for Thrombocytopenia 4

Search Clinical Trials , NIH Clinical Center for Thrombocytopenia 4

Genetic Tests for Thrombocytopenia 4

Genetic tests related to Thrombocytopenia 4:

# Genetic test Affiliating Genes
1 Thrombocytopenia 4 30 CYCS

Anatomical Context for Thrombocytopenia 4

Publications for Thrombocytopenia 4

Articles related to Thrombocytopenia 4:

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

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

Expression for Thrombocytopenia 4

Search GEO for disease gene expression data for Thrombocytopenia 4.

Pathways for Thrombocytopenia 4

GO Terms for Thrombocytopenia 4

Sources for Thrombocytopenia 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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