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 57 13 72
East Texas Bleeding Disorder 59
Bdet 57

Characteristics:

Orphanet epidemiological data:

59
east texas bleeding disorder
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

Classifications:



External Ids:

OMIM 57 605913
ICD10 via Orphanet 34 D68.2
UMLS via Orphanet 73 C1853831
Orphanet 59 ORPHA391320
MedGen 42 C1853831
UMLS 72 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. 8
11238089 2001
2
Tissue Factor Pathway Inhibitor: Multiple Anticoagulant Activities for a Single Protein. 38
26603155 2016
3
New insights into the biology of tissue factor pathway inhibitor. 38
26149025 2015
4
Factor V, tissue factor pathway inhibitor, and east Texas bleeding disorder. 38
23979154 2013
5
Coagulation factor V(A2440G) causes east Texas bleeding disorder via TFPIα. 38
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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