THPH12
MCID: THR023
MIFTS: 17

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 57 75 29 13 6 40 73
Thph12 57 75
Thrombomodulin-Related Bleeding Disorder 59
Thrombomodulin-Related Coagulopathy 59
Thbd-Related Bleeding Disorder 59
Thbd-Related Coagulopathy 59

Characteristics:

Orphanet epidemiological data:

59
thrombomodulin-related bleeding disorder
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

Classifications:



External Ids:

OMIM 57 614486
Orphanet 59 ORPHA436169
ICD10 via Orphanet 34 D68.3
UMLS via Orphanet 74 C3280976
MeSH 44 D019851
SNOMED-CT via HPO 69 128053003 234467004 76612001
UMLS 73 C3280976

Summaries for Thrombophilia Due to Thrombomodulin Defect

OMIM : 57 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 : 75 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

Clinical features from OMIM:

614486

Human phenotypes related to Thrombophilia Due to Thrombomodulin Defect:

32
# Description HPO Frequency HPO Source Accession
1 hypercoagulability 32 HP:0100724
2 deep venous thrombosis 32 HP:0002625

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 29 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:

75
# 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 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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