THPH12
MCID: THR023
MIFTS: 16

Thrombophilia Due to Thrombomodulin Defect (THPH12)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Thrombophilia Due to Thrombomodulin Defect

MalaCards integrated aliases for Thrombophilia Due to Thrombomodulin Defect:

Name: Thrombophilia Due to Thrombomodulin Defect 58 76 30 13 6 41 74
Thph12 58 76
Thrombomodulin-Related Bleeding Disorder 60
Thrombomodulin-Related Coagulopathy 60
Thbd-Related Bleeding Disorder 60
Thbd-Related Coagulopathy 60

Characteristics:

Orphanet epidemiological data:

60
thrombomodulin-related bleeding disorder
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

Classifications:



External Ids:

OMIM 58 614486
MeSH 45 D019851
ICD10 via Orphanet 35 D68.3
UMLS via Orphanet 75 C3280976
Orphanet 60 ORPHA436169
SNOMED-CT via HPO 70 128053003 234467004 76612001
UMLS 74 C3280976

Summaries for Thrombophilia Due to Thrombomodulin Defect

OMIM : 58 The role of thrombomodulin in thrombosis is controversial. Although there have been several reports of THBD mutations in patients with venous thrombosis, clear functional evidence for the pathogenicity of these mutations is lacking. In a review, Anastasiou et al. (2012) noted that thrombomodulin has a major role in capillary beds and that THBD variation may not be associated with large vessel thrombosis. It is likely that genetic or environmental risk factors in addition to THBD variation are involved in the pathogenesis of venous thrombosis. However, variation in the THBD gene may be associated with increased risk for arterial thrombosis and myocardial infarction. This association may be attributed to the fact that thrombomodulin can modulate inflammatory processes, complement activity, and fibrinolysis. (614486)

MalaCards based summary : Thrombophilia Due to Thrombomodulin Defect, is also known as thph12. An important gene associated with Thrombophilia Due to Thrombomodulin Defect is THBD (Thrombomodulin). Related phenotypes are hypercoagulability and deep venous thrombosis

UniProtKB/Swiss-Prot : 76 Thrombophilia due to thrombomodulin defect: A hemostatic disorder characterized by a tendency to thrombosis.

Related Diseases for Thrombophilia Due to Thrombomodulin Defect

Symptoms & Phenotypes for Thrombophilia Due to Thrombomodulin Defect

Human phenotypes related to Thrombophilia Due to Thrombomodulin Defect:

33
# Description HPO Frequency HPO Source Accession
1 hypercoagulability 33 HP:0100724
2 deep venous thrombosis 33 HP:0002625

Clinical features from OMIM:

614486

Drugs & Therapeutics for Thrombophilia Due to Thrombomodulin Defect

Search Clinical Trials , NIH Clinical Center for Thrombophilia Due to Thrombomodulin Defect

Genetic Tests for Thrombophilia Due to Thrombomodulin Defect

Genetic tests related to Thrombophilia Due to Thrombomodulin Defect:

# Genetic test Affiliating Genes
1 Thrombophilia Due to Thrombomodulin Defect 30 THBD

Anatomical Context for Thrombophilia Due to Thrombomodulin Defect

Publications for Thrombophilia Due to Thrombomodulin Defect

Variations for Thrombophilia Due to Thrombomodulin Defect

UniProtKB/Swiss-Prot genetic disease variations for Thrombophilia Due to Thrombomodulin Defect:

76
# Symbol AA change Variation ID SNP ID
1 THBD p.Asp486Tyr VAR_011371 rs41348347

ClinVar genetic disease variations for Thrombophilia Due to Thrombomodulin Defect:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 THBD NM_000361.2(THBD): c.1456G> T (p.Asp486Tyr) single nucleotide variant Benign rs41348347 GRCh37 Chromosome 20, 23028686: 23028686
2 THBD NM_000361.2(THBD): c.1456G> T (p.Asp486Tyr) single nucleotide variant Benign rs41348347 GRCh38 Chromosome 20, 23048049: 23048049
3 THBD THBD, ALA25THR single nucleotide variant Pathogenic
4 THBD THBD, 1-BP INS, 1689T insertion Pathogenic
5 THBD THBD, -33G-A, PROMOTER single nucleotide variant Pathogenic
6 THBD NM_000361.2(THBD): c.1209G> T (p.Arg403Ser) single nucleotide variant Pathogenic rs398122807 GRCh37 Chromosome 20, 23028933: 23028933
7 THBD NM_000361.2(THBD): c.1209G> T (p.Arg403Ser) single nucleotide variant Pathogenic rs398122807 GRCh38 Chromosome 20, 23048296: 23048296
8 THBD NM_000361.2(THBD): c.-151G> T single nucleotide variant Pathogenic rs16984852 GRCh37 Chromosome 20, 23030292: 23030292
9 THBD NM_000361.2(THBD): c.-151G> T single nucleotide variant Pathogenic rs16984852 GRCh38 Chromosome 20, 23049655: 23049655

Expression for Thrombophilia Due to Thrombomodulin Defect

Search GEO for disease gene expression data for Thrombophilia Due to Thrombomodulin Defect.

Pathways for Thrombophilia Due to Thrombomodulin Defect

GO Terms for Thrombophilia Due to Thrombomodulin Defect

Sources for Thrombophilia Due to Thrombomodulin Defect

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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