BDET
MCID: BLD072
MIFTS: 13

Bleeding Disorder, East Texas Type (BDET)

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Bleeding Disorder, East Texas Type

MalaCards integrated aliases for Bleeding Disorder, East Texas Type:

Name: Bleeding Disorder, East Texas Type 56 13 71
East Texas Bleeding Disorder 58
Bdet 56

Characteristics:

Orphanet epidemiological data:

58
east texas bleeding disorder
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

OMIM 56 605913
ICD10 via Orphanet 33 D68.2
UMLS via Orphanet 72 C1853831
Orphanet 58 ORPHA391320
MedGen 41 C1853831
UMLS 71 C1853831

Summaries for Bleeding Disorder, East Texas Type

MalaCards based summary : Bleeding Disorder, East Texas Type, is also known as east texas bleeding disorder. An important gene associated with Bleeding Disorder, East Texas Type is F5 (Coagulation Factor V).

More information from OMIM: 605913

Related Diseases for Bleeding Disorder, East Texas Type

Symptoms & Phenotypes for Bleeding Disorder, East Texas Type

Clinical features from OMIM:

605913

Drugs & Therapeutics for Bleeding Disorder, East Texas Type

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Balloon Dilation in Selected Subjects With Refractory Eustachian Tube Dysfunction Completed NCT02114762

Search NIH Clinical Center for Bleeding Disorder, East Texas Type

Genetic Tests for Bleeding Disorder, East Texas Type

Anatomical Context for Bleeding Disorder, East Texas Type

Publications for Bleeding Disorder, East Texas Type

Articles related to Bleeding Disorder, East Texas Type:

# Title Authors PMID Year
1
Characterization of a novel autosomal dominant bleeding disorder in a large kindred from east Texas. 56
11238089 2001
2
Tissue Factor Pathway Inhibitor: Multiple Anticoagulant Activities for a Single Protein. 61
26603155 2016
3
New insights into the biology of tissue factor pathway inhibitor. 61
26149025 2015
4
Factor V, tissue factor pathway inhibitor, and east Texas bleeding disorder. 61
23979154 2013
5
Coagulation factor V(A2440G) causes east Texas bleeding disorder via TFPIα. 61
23979162 2013

Variations for Bleeding Disorder, East Texas Type

Expression for Bleeding Disorder, East Texas Type

Search GEO for disease gene expression data for Bleeding Disorder, East Texas Type.

Pathways for Bleeding Disorder, East Texas Type

GO Terms for Bleeding Disorder, East Texas Type

Sources for Bleeding Disorder, East Texas Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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