THPH12
MCID: THR023
MIFTS: 24

Thrombophilia Due to Thrombomodulin Defect (THPH12)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Genetic diseases, Immune 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 12 72 29 13 6 44 39 70
Thph12 57 12 72
Thrombomodulin-Related Bleeding Disorder 12 58
Thrombomodulin-Related Coagulopathy 12 58
Thbd-Related Bleeding Disorder 12 58
Thbd-Related Coagulopathy 12 58

Characteristics:

Orphanet epidemiological data:

58
thrombomodulin-related bleeding disorder
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0111908
OMIM® 57 614486
OMIM Phenotypic Series 57 PS188050
ICD10 via Orphanet 33 D68.3
UMLS via Orphanet 71 C3280976
Orphanet 58 ORPHA436169
SNOMED-CT via HPO 68 128053003 234467004 76612001
UMLS 70 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) (Updated 20-May-2021)

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). Affiliated tissues include endothelial, and related phenotypes are hypercoagulability and deep venous thrombosis

Disease Ontology : 12 A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has material basis in mutation in THBD on chromosome 20p11.21.

UniProtKB/Swiss-Prot : 72 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:

31
# Description HPO Frequency HPO Source Accession
1 hypercoagulability 31 HP:0100724
2 deep venous thrombosis 31 HP:0002625

Clinical features from OMIM®:

614486 (Updated 20-May-2021)

Drugs & Therapeutics for Thrombophilia Due to Thrombomodulin Defect

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

Cochrane evidence based reviews: 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

MalaCards organs/tissues related to Thrombophilia Due to Thrombomodulin Defect:

40
Endothelial

Publications for Thrombophilia Due to Thrombomodulin Defect

Articles related to Thrombophilia Due to Thrombomodulin Defect:

(show all 14)
# Title Authors PMID Year
1
Common genetic risk factors for venous thrombosis in the Chinese population. 57 6
23332921 2013
2
Mutations in the thrombomodulin gene are rare in patients with severe thrombophilia. 57 6
12139752 2002
3
Naturally occurring mutations in the thrombomodulin gene leading to impaired expression and function. 6 57
11986219 2002
4
Identification and characterization of a thrombomodulin gene mutation coding for an elongated protein with reduced expression in a kindred with myocardial infarction. 6 57
10627464 2000
5
G-33A mutation in the promoter region of thrombomodulin gene and its association with coronary artery disease and plasma soluble thrombomodulin levels. 57 6
11078228 2000
6
A mutation in the thrombomodulin gene, 127G to A coding for Ala25Thr, and the risk of myocardial infarction in men. 6 57
9843165 1998
7
Thrombomodulin as a regulator of the anticoagulant pathway: implication in the development of thrombosis. 57
22036808 2012
8
Mutations in the thrombomodulin and endothelial protein C receptor genes in women with late fetal loss. 57
11552992 2001
9
Thrombomodulin with the Asp468Tyr mutation is expressed on the cell surface with normal cofactor activity for protein C activation. 57
10460600 1999
10
Mutations in promoter region of thrombomodulin and venous thromboembolic disease. 6
10195941 1999
11
A novel thrombomodulin gene mutation in a patient suffering from sagittal sinus thrombosis. 6
9364978 1997
12
Thrombomodulin gene mutations associated with myocardial infarction. 6
9236408 1997
13
The first mutation identified in the thrombomodulin gene in a 45-year-old man presenting with thromboembolic disease. 57
7811989 1995
14
A new thrombomodulin-related coagulopathy. 61
32881335 2020

Variations for Thrombophilia Due to Thrombomodulin Defect

ClinVar genetic disease variations for Thrombophilia Due to Thrombomodulin Defect:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 THBD THBD, ALA25THR SNV Pathogenic 12715 GRCh37:
GRCh38:
2 THBD THBD, 1-BP INS, 1689T Insertion Pathogenic 12716 GRCh37:
GRCh38:
3 THBD THBD, -33G-A, PROMOTER SNV Pathogenic 12717 GRCh37:
GRCh38:
4 THBD NM_000361.2(THBD):c.1209G>T (p.Arg403Ser) SNV Pathogenic 29903 rs398122807 GRCh37: 20:23028933-23028933
GRCh38: 20:23048296-23048296
5 THBD NM_000361.2(THBD):c.-151G>T SNV Pathogenic 139519 rs16984852 GRCh37: 20:23030292-23030292
GRCh38: 20:23049655-23049655
6 THBD NM_000361.3(THBD):c.994G>T (p.Glu332Ter) SNV Uncertain significance 1029800 GRCh37: 20:23029148-23029148
GRCh38: 20:23048511-23048511
7 THBD NM_000361.2(THBD):c.683C>T (p.Pro228Leu) SNV Uncertain significance 626184 rs375011249 GRCh37: 20:23029459-23029459
GRCh38: 20:23048822-23048822
8 THBD NM_000361.2(THBD):c.1456G>T (p.Asp486Tyr) SNV Uncertain significance 12714 rs41348347 GRCh37: 20:23028686-23028686
GRCh38: 20:23048049-23048049

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

72
# Symbol AA change Variation ID SNP ID
1 THBD p.Asp486Tyr VAR_011371 rs41348347

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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