MCID: THR048
MIFTS: 17

Thrombocytopenia 4

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

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:



External Ids:

OMIM 57 612004
MedGen 42 C2677608
MeSH 44 D013921
SNOMED-CT via HPO 69 263681008 302215000 415116008
UMLS 73 C2677608

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). 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 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 10.0

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

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 29 CYCS

Anatomical Context for Thrombocytopenia 4

Publications for Thrombocytopenia 4

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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