MCID: INH004
MIFTS: 36

Inherited Blood Coagulation Disease

Categories: Blood diseases

Aliases & Classifications for Inherited Blood Coagulation Disease

MalaCards integrated aliases for Inherited Blood Coagulation Disease:

Name: Inherited Blood Coagulation Disease 12 15
Blood Coagulation Disorders, Inherited 29 44

Classifications:



External Ids:

Disease Ontology 12 DOID:2214
MeSH 44 D025861
UMLS 73 C0852077

Summaries for Inherited Blood Coagulation Disease

MalaCards based summary : Inherited Blood Coagulation Disease, also known as blood coagulation disorders, inherited, is related to bleeding disorder, platelet-type, 16 and gray platelet syndrome. An important gene associated with Inherited Blood Coagulation Disease is VWF (Von Willebrand Factor), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. Affiliated tissues include skin, liver and heart, and related phenotypes are hematopoietic system and cardiovascular system

Related Diseases for Inherited Blood Coagulation Disease

Diseases in the Blood Coagulation Disease family:

Inherited Blood Coagulation Disease

Diseases related to Inherited Blood Coagulation Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 145)
# Related Disease Score Top Affiliating Genes
1 bleeding disorder, platelet-type, 16 31.7 ITGA2B ITGB3
2 gray platelet syndrome 31.5 GP9 NBEAL2 VWF
3 antithrombin iii deficiency 31.5 F2 SERPINC1
4 hemophilia b 31.1 F2 F3 F7 F8 F9 SERPINC1
5 pseudo-von willebrand disease 31.0 ANO6 GP1BA GP1BB GP9 VWF
6 bernard-soulier syndrome 30.7 F2 F8 GP1BA GP1BB GP9 ITGA2B
7 glanzmann thrombasthenia 30.5 F2 F3 F8 F9 GP1BA GP9
8 bleeding disorder, platelet-type, 17 11.0
9 scott syndrome 11.0
10 quebec platelet disorder 11.0
11 bleeding disorder, platelet-type, 12 11.0
12 platelet glycoprotein iv deficiency 11.0
13 bleeding disorder, platelet-type, 8 11.0
14 bleeding disorder, platelet-type, 14 11.0
15 bleeding disorder, platelet-type, 9 11.0
16 bleeding disorder, platelet-type, 11 11.0
17 bleeding disorder, platelet-type, 15 11.0
18 bleeding disorder, platelet-type, 18 11.0
19 bleeding disorder, platelet-type, 19 11.0
20 bleeding disorder, platelet-type, 20 11.0
21 fainting 10.3 F8 VWF
22 cerebral arteritis 10.3 F8 VWF
23 platelet aggregation, spontaneous 10.2 SERPINC1 VWF
24 aspirin allergy 10.2 ITGA2B SERPINC1
25 mesenteric vascular occlusion 10.2 F2 F7
26 active peptic ulcer disease 10.2 F2 VWF
27 spinal cord infarction 10.2 F2 SERPINC1
28 congenital disorder of glycosylation, type ia 10.2 F9 SERPINC1
29 malignant skin fibrous histiocytoma 10.2 F7 F9 ITGA2B
30 malignant dermis tumor 10.2 F7 F9 ITGA2B
31 alpha-2-plasmin inhibitor deficiency 10.2 F2 SERPINC1
32 intracranial embolism 10.2 F2 SERPINC1
33 vitamin k deficiency hemorrhagic disease 10.2 F2 F8
34 heparin-induced thrombocytopenia 10.2 F3 SERPINC1
35 prothrombin deficiency, congenital 10.1 F2 SERPINC1
36 brachydactyly, type d 10.1 F2 F8 VWF
37 ischemic colitis 10.1 F2 SERPINC1
38 factor viii deficiency 10.1 F2 F8 VWF
39 cardiac tamponade 10.1 F2 F8 F9
40 subendocardial myocardial infarction 10.1 F2 SERPINC1
41 acquired hemophilia 10.1 F3 F8 F9
42 acquired hemophilia a 10.1 F3 F8 F9
43 cerebral falx meningioma 10.1 F2 F3
44 sneddon syndrome 10.1 F2 SERPINC1
45 sticky platelet syndrome 10.1 ITGB3 SERPINC1
46 hemarthrosis 10.1 F7 F8 F9 VWF
47 livedoid vasculitis 10.1 F2 F8 SERPINC1
48 thrombophlebitis 10.1 F2 F8 SERPINC1
49 cerebral sinovenous thrombosis 10.1 F2 F3
50 post-thrombotic syndrome 10.1 F2 F8 SERPINC1

Graphical network of the top 20 diseases related to Inherited Blood Coagulation Disease:



Diseases related to Inherited Blood Coagulation Disease

Symptoms & Phenotypes for Inherited Blood Coagulation Disease

MGI Mouse Phenotypes related to Inherited Blood Coagulation Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.97 ANO6 F2 F3 F8 F9 GP1BA
2 cardiovascular system MP:0005385 9.91 F2 F3 F7 F9 FGB ITGA2B
3 homeostasis/metabolism MP:0005376 9.77 ANO6 F2 F3 F7 F8 F9
4 immune system MP:0005387 9.28 F2 F3 F8 F9 ITGA2B ITGB3

Drugs & Therapeutics for Inherited Blood Coagulation Disease

Search Clinical Trials , NIH Clinical Center for Inherited Blood Coagulation Disease

Cochrane evidence based reviews: blood coagulation disorders, inherited

Genetic Tests for Inherited Blood Coagulation Disease

Genetic tests related to Inherited Blood Coagulation Disease:

# Genetic test Affiliating Genes
1 Blood Coagulation Disorders, Inherited 29

Anatomical Context for Inherited Blood Coagulation Disease

MalaCards organs/tissues related to Inherited Blood Coagulation Disease:

41
Skin, Liver, Heart, Spinal Cord

Publications for Inherited Blood Coagulation Disease

Variations for Inherited Blood Coagulation Disease

Expression for Inherited Blood Coagulation Disease

Search GEO for disease gene expression data for Inherited Blood Coagulation Disease.

Pathways for Inherited Blood Coagulation Disease

Pathways related to Inherited Blood Coagulation Disease according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.05 F2 F3 F7 F8 F9 FGB
2
Show member pathways
12.76 F2 F3 F7 F8 F9 FGB
3
Show member pathways
12.15 FGB ITGA2B ITGB3 VWF
4
Show member pathways
12.12 FGB GP1BA GP1BB GP9 ITGA2B ITGB3
5 12.07 F2 F3 F7 F8 F9 FGB
6 12 FGB GP1BA GP1BB GP9 ITGA2B ITGB3
7
Show member pathways
11.96 FGB ITGA2B ITGB3 VWF
8 11.86 GP1BA GP1BB GP9 ITGA2B ITGB3
9 11.82 GP1BA ITGA2B ITGB3
10
Show member pathways
11.78 F2 F7 F9
11 11.68 F3 ITGB3 VWF
12
Show member pathways
11.57 F2 F3 F7 F8 F9 FGB
13
Show member pathways
11.55 F2 FGB GP1BA GP1BB GP9 ITGA2B
14 11.51 F2 FGB GP1BB GP9 ITGA2B ITGB3
15 11.39 GP9 ITGA2B ITGB3
16 11.02 ITGA2B ITGB3
17 10.91 ITGA2B ITGB3
18 10.87 GP1BA GP1BB GP9 VWF
19 10.86 F2 F7 F9
20 10.73 GP1BA GP1BB GP9 VWF

GO Terms for Inherited Blood Coagulation Disease

Cellular components related to Inherited Blood Coagulation Disease according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.81 ANO6 F2 F9 FGB GP1BA ITGA2B
2 cell surface GO:0009986 9.8 ANO6 F3 FGB GP1BA ITGA2B ITGB3
3 collagen-containing extracellular matrix GO:0062023 9.76 F3 FGB SERPINC1 VWF
4 Golgi lumen GO:0005796 9.67 F2 F7 F9
5 blood microparticle GO:0072562 9.67 F2 FGB ITGA2B SERPINC1
6 platelet alpha granule lumen GO:0031093 9.61 F8 FGB VWF
7 integrin complex GO:0008305 9.54 ITGA2B ITGB3
8 platelet alpha granule membrane GO:0031092 9.52 ITGA2B ITGB3
9 platelet alpha granule GO:0031091 9.51 FGB VWF
10 plasma membrane GO:0005886 9.47 ANO6 F2 F3 F7 F8 F9
11 endoplasmic reticulum lumen GO:0005788 9.35 F2 F7 F8 F9 SERPINC1
12 serine-type peptidase complex GO:1905286 9.26 F3 F7
13 extracellular region GO:0005576 10.08 F2 F3 F7 F8 F9 FGB
14 extracellular space GO:0005615 10.01 F2 F3 F7 F8 F9 FGB

Biological processes related to Inherited Blood Coagulation Disease according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.97 ANO6 F2 F3 F7 F8 F9
2 cell adhesion GO:0007155 9.95 GP1BA GP1BB GP9 ITGA2B ITGB3 VWF
3 platelet activation GO:0030168 9.86 F2 F8 FGB GP1BA GP1BB GP9
4 extracellular matrix organization GO:0030198 9.84 FGB ITGA2B ITGB3 VWF
5 ER to Golgi vesicle-mediated transport GO:0006888 9.83 F2 F7 F8 F9
6 cell-matrix adhesion GO:0007160 9.72 FGB ITGA2B ITGB3
7 platelet degranulation GO:0002576 9.72 F8 FGB ITGA2B ITGB3 VWF
8 hemostasis GO:0007599 9.7 F2 F3 F7 F8 F9 FGB
9 platelet aggregation GO:0070527 9.67 FGB GP1BA ITGA2B ITGB3
10 fibrinolysis GO:0042730 9.61 F2 FGB GP1BA
11 cell-substrate adhesion GO:0031589 9.58 ITGB3 VWF
12 regulation of blood coagulation GO:0030193 9.58 F2 GP1BA SERPINC1
13 positive regulation of blood coagulation GO:0030194 9.57 F2 F7
14 positive regulation of positive chemotaxis GO:0050927 9.56 F3 F7
15 blood coagulation, extrinsic pathway GO:0007598 9.51 F3 F7
16 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.49 F3 F7
17 activation of blood coagulation via clotting cascade GO:0002543 9.46 ANO6 F3
18 blood coagulation, intrinsic pathway GO:0007597 9.17 F2 F8 F9 GP1BA GP1BB GP9

Molecular functions related to Inherited Blood Coagulation Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.83 ANO6 F2 F3 F7 F8 F9
2 serine-type endopeptidase activity GO:0004252 9.56 F2 F3 F7 F9
3 serine-type peptidase activity GO:0008236 9.5 F2 F7 F9
4 fibrinogen binding GO:0070051 9.16 ITGA2B ITGB3
5 protease binding GO:0002020 8.92 F3 ITGB3 SERPINC1 VWF

Sources for Inherited Blood Coagulation Disease

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
Content
Loading form....