MCID: INH004
MIFTS: 30

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 43

Classifications:



External Ids:

Disease Ontology 12 DOID:2214
MeSH 43 D025861
UMLS 71 C0852077

Summaries for Inherited Blood Coagulation Disease

MalaCards based summary : Inherited Blood Coagulation Disease, also known as blood coagulation disorders, inherited, is related to antithrombin iii deficiency and bleeding disorder, platelet-type, 16. An important gene associated with Inherited Blood Coagulation Disease is F9 (Coagulation Factor IX), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Related phenotypes are hematopoietic system and homeostasis/metabolism

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 209)
# Related Disease Score Top Affiliating Genes
1 antithrombin iii deficiency 32.6 SERPINC1 F3 F2
2 bleeding disorder, platelet-type, 16 32.5 ITGB3 ITGA2B
3 high molecular weight kininogen deficiency 32.5 F3 F11
4 factor xii deficiency 32.4 VWF SERPINC1 F9 F3 F11
5 factor vii deficiency 32.3 SERPINC1 F9 F8 F7 F3 F2
6 factor xiii deficiency 32.2 VWF SERPINC1 F9 F8 F7 F3
7 pseudo-von willebrand disease 32.1 VWF SIGLEC5 GP9 GP6 GP1BB GP1BA
8 factor viii deficiency 32.0 VWF SIGLEC5 F9 F8 F7 F3
9 factor xi deficiency 32.0 VWF SERPINC1 F9 F8 F7 F3
10 gray platelet syndrome 31.9 WDTC1 VWF NBEAL2 ITGA2B GP9 GP6
11 hemophilia b 31.9 VWF SERPINC1 F9 F8 F7 F3
12 bleeding disorder, platelet-type, 11 31.7 GP6 GP1BA
13 glanzmann thrombasthenia 31.7 VWF ITGB3 ITGA2B GP9 GP1BA F9
14 bernard-soulier syndrome 30.9 WDTC1 VWF ITGB3 ITGA2B GP9 GP6
15 bleeding disorder, platelet-type, 17 11.1
16 scott syndrome 11.1
17 quebec platelet disorder 11.1
18 bleeding disorder, platelet-type, 12 11.1
19 platelet glycoprotein iv deficiency 11.1
20 bleeding disorder, platelet-type, 8 11.1
21 bleeding disorder, platelet-type, 14 11.1
22 bleeding disorder, platelet-type, 9 11.1
23 bleeding disorder, platelet-type, 15 11.1
24 bleeding disorder, platelet-type, 18 11.1
25 bleeding disorder, platelet-type, 19 11.1
26 bleeding disorder, platelet-type, 20 11.1
27 fainting 10.7 VWF F8
28 hemophilia 10.7 F9 F8 F7
29 pediatric angiosarcoma 10.7 VWF F8
30 medulloadrenal hyperfunction 10.7 VWF F3
31 achenbach syndrome 10.6 F3 F2
32 spinal cord infarction 10.6 SERPINC1 F2
33 heparin-induced thrombocytopenia 10.6 SERPINC1 F3
34 platelet aggregation, spontaneous 10.6 VWF SERPINC1
35 renal pelvis squamous cell carcinoma 10.6 F3 F2
36 emphysematous cholecystitis 10.6 F3 F2
37 femoral neuropathy 10.6 F3 F2
38 brachydactyly, type d 10.6 VWF F9 F8
39 al amyloidosis 10.6 VWF ADAMTS13
40 thrombotic microangiopathy 10.6 VWF ADAMTS13
41 papillary adenofibroma 10.6 VWF F3 F2
42 retinal vein occlusion 10.6 SERPINC1 F3 F2
43 puerperal pulmonary embolism 10.6 SERPINC1 F11
44 hemopneumothorax 10.6 F3 F2
45 endocarditis 10.6 SERPINC1 GP1BA F2
46 cholesterol embolism 10.6 SERPINC1 F7 F2
47 blue toe syndrome 10.6 SERPINC1 F3 F2
48 colorectal cancer 5 10.6 VWF ADAMTS13
49 lymphangiosarcoma 10.6 VWF F8
50 gastric hemangioma 10.6 F3 F2

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.19 ADAMTS13 ANO6 ATAT1 F11 F2 F3
2 homeostasis/metabolism MP:0005376 10.09 ADAMTS13 ANO6 F11 F2 F3 F7
3 cardiovascular system MP:0005385 10.02 ANO6 F11 F2 F3 F7 F9
4 immune system MP:0005387 9.8 ADAMTS13 ANO6 F11 F2 F3 F8
5 mortality/aging MP:0010768 9.5 ADAMTS13 ANO6 ATAT1 F11 F2 F3

Drugs & Therapeutics for Inherited Blood Coagulation Disease

Drugs for Inherited Blood Coagulation Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins Phase 3
2 Antibodies Phase 3
3 Pharmaceutical Solutions Phase 3
4 Coagulants Phase 3
5
Thrombin Approved, Investigational
6
Warfarin Approved 81-81-2 6691 54678486
7 Hemostatics
8 Anticoagulants
9 Antibodies, Blocking

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 ATLAS-A/B: A Phase 3 Study to Evaluate the Efficacy and Safety of Fitusiran in Patients With Hemophilia A or B, Without Inhibitory Antibodies to Factor VIII or IX Active, not recruiting NCT03417245 Phase 3 fitusiran;factor VIII or factor IX
2 ATLAS-INH: A Phase 3 Study to Evaluate the Efficacy and Safety of Fitusiran in Patients With Hemophilia A or B, With Inhibitory Antibodies to Factor VIII or IX Active, not recruiting NCT03417102 Phase 3 fitusiran;Bypassing agents
3 Phase 3 Study To Evaluate Efficacy/Safety of Valoctocogene Roxaparvovec an AAV Vector-Mediated Gene Transfer of hFVIII at a Dose of 4E13vg/kg in Hemophilia A Patients With Residual FVIII Levels ≤1IU/dL Receiving Prophylactic FVIII Infusions Active, not recruiting NCT03392974 Phase 3
4 A Phase 3 Open-Label, Single-Arm Study To Evaluate The Efficacy and Safety of BMN 270, an Adeno-Associated Virus Vector-Mediated Gene Transfer of Human Factor VIII in Hemophilia A Patients With Residual FVIII Levels ≤ 1 IU/dL Receiving Prophylactic FVIII Infusions Active, not recruiting NCT03370913 Phase 3
5 A Phase 3b, Single Arm, Open-Label Study to Evaluate the Efficacy and Safety of BMN 270, an Adeno-Associated Virus Vector-Mediated Gene Transfer of Human Factor VIII, With Prophylactic Corticosteroids in Hemophilia A Patients Not yet recruiting NCT04323098 Phase 3
6 Pharmacokinetics, Safety and Efficacy of Recombinant Factor IX Product, IB1001, in Patients With Severe Hemophilia B Withdrawn NCT02048111 Phase 3
7 Gene Transfer, Dose-Finding Safety, Tolerability, and Efficacy Study of SPK-8011 [a Recombinant Adeno-Associated Viral Vector With Human Factor VIII Gene] in Individuals With Hemophilia A Recruiting NCT03003533 Phase 1, Phase 2
8 A Phase 1/2, Dose-Escalation, Safety, Tolerability and Efficacy Study of Valoctocogene Roxaparvovec, an Adenovirus-Associated Virus Vector-Mediated Gene Transfer of Human Factor VIII in Patients With Severe Haemophilia A Active, not recruiting NCT02576795 Phase 1, Phase 2
9 Dose-finding Study of SPK-8016 Gene Therapy in Patients With Hemophilia A to Support Evaluation in Individuals With FVIII Inhibitors Active, not recruiting NCT03734588 Phase 1, Phase 2
10 Phase 1/2 Study to Assess the Safety and Pharmacokinetics of Subcutaneous Injection of OCTA101 in Previously Treated Adult Patients With Severe Hemophilia A Active, not recruiting NCT04046848 Phase 1, Phase 2 OCTA101
11 A Phase 1/2 Safety, Tolerability, and Efficacy Study of Valoctocogene Roxaparvovec, an Adeno-Associated Virus Vector-Mediated Gene Transfer of Human Factor VIII in Hemophilia A Patients With Residual FVIII Levels ≤ 1 IU/dL and Pre-existing Antibodies Against AAV5 Enrolling by invitation NCT03520712 Phase 1, Phase 2
12 Evaluation of Hemostasis in Bleeding and Thrombotic Disorders Using the Roteg Analyzer and the Thrombin Generation Assay Unknown status NCT00178594
13 Education Program for Patients Receiving Oral Anticoagulation Unknown status NCT01339611
14 A Multi-Center, Observational Study in Males With Hemophilia A Active, not recruiting NCT03876301 Standard of Care FVIII Replacement therapy
15 Screening/Observational Protocol to Determine Patient Eligibility for Inclusion in AAV Gene Therapy Clinical Trials (ECLIPSE) Not yet recruiting NCT04272554

Search NIH Clinical Center for Inherited Blood Coagulation Disease

Cochrane evidence based reviews: blood coagulation disorders, inherited

Genetic Tests for Inherited Blood Coagulation Disease

Anatomical Context for Inherited Blood Coagulation Disease

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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.88 VWF SERPINC1 ITGB3 ITGA2B GP9 GP6
2
Show member pathways
12.76 SERPINC1 F9 F8 F7 F3 F2
3
Show member pathways
12.17 VWF ITGB3 ITGA2B GP9 GP6 GP1BB
4 12.09 VWF SERPINC1 F9 F8 F7 F3
5 11.95 VWF ITGB3 ITGA2B GP9 GP6 GP1BB
6
Show member pathways
11.94 VWF ITGB3 ITGA2B GP9 GP1BB GP1BA
7 11.87 ITGB3 ITGA2B GP9 GP1BB GP1BA
8 11.8 ITGB3 ITGA2B GP1BA
9
Show member pathways
11.76 F9 F7 F2
10 11.66 VWF ITGB3 F3
11
Show member pathways
11.6 VWF SERPINC1 GP9 GP6 GP1BB GP1BA
12 11.41 VWF ITGB3 ITGA2B GP9 GP6 GP1BB
13 11.38 ITGB3 ITGA2B GP9
14 10.88 VWF GP9 GP6 GP1BB GP1BA
15 10.86 F9 F7 F2
16 10.76 VWF GP9 GP1BB GP1BA

GO Terms for Inherited Blood Coagulation Disease

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.11 VWF SERPINC1 F9 F8 F7 F3
2 extracellular exosome GO:0070062 10.07 VWF SERPINC1 ITGB3 ITGA2B GP6 GP1BA
3 extracellular space GO:0005615 10.06 SERPINC1 GP1BA F9 F8 F7 F3
4 cell surface GO:0009986 9.8 ITGB3 ITGA2B GP6 GP1BA F3 ANO6
5 Golgi lumen GO:0005796 9.65 F9 F7 F2
6 collagen-containing extracellular matrix GO:0062023 9.63 VWF SERPINC1 F9 F7 F3 F2
7 tertiary granule membrane GO:0070821 9.61 SIGLEC5 NBEAL2 ANO6
8 plasma membrane GO:0005886 9.53 SIGLEC5 SERPINC1 NBEAL2 ITGB3 ITGA2B GP9
9 platelet alpha granule membrane GO:0031092 9.49 ITGB3 ITGA2B
10 endoplasmic reticulum lumen GO:0005788 9.43 SERPINC1 F9 F8 F7 F2 ADAMTS13
11 serine-type peptidase complex GO:1905286 9.32 F7 F3

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.91 VWF SIGLEC5 ITGB3 ITGA2B GP9 GP1BB
2 blood coagulation, intrinsic pathway GO:0007597 9.86 VWF GP9 GP1BB GP1BA F9 F8
3 extracellular matrix organization GO:0030198 9.85 VWF ITGB3 ITGA2B ADAMTS13
4 ER to Golgi vesicle-mediated transport GO:0006888 9.83 F9 F8 F7 F2
5 platelet activation GO:0030168 9.81 VWF ITGB3 GP9 GP6 GP1BB GP1BA
6 hemostasis GO:0007599 9.77 VWF SERPINC1 GP9 GP6 GP1BB GP1BA
7 integrin-mediated signaling pathway GO:0007229 9.75 ITGB3 ITGA2B ADAMTS13
8 cell-matrix adhesion GO:0007160 9.74 ITGB3 ITGA2B ADAMTS13
9 platelet degranulation GO:0002576 9.73 VWF ITGB3 ITGA2B F8
10 protein processing GO:0016485 9.69 F7 F3 ADAMTS13
11 platelet aggregation GO:0070527 9.67 ITGB3 ITGA2B GP1BA
12 regulation of blood coagulation GO:0030193 9.62 SERPINC1 GP1BA F2 F11
13 cell-substrate adhesion GO:0031589 9.58 VWF ITGB3
14 positive regulation of blood coagulation GO:0030194 9.56 F7 F2
15 positive regulation of positive chemotaxis GO:0050927 9.54 F7 F3
16 blood coagulation GO:0007596 9.5 VWF SERPINC1 ITGB3 GP9 GP6 GP1BB
17 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.48 F7 F3
18 blood coagulation, extrinsic pathway GO:0007598 9.46 F7 F3
19 activation of blood coagulation via clotting cascade GO:0002543 9.4 F3 ANO6

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 9.93 WDTC1 VWF SIGLEC5 SERPINC1 NBEAL2 ITGB3
2 peptidase activity GO:0008233 9.77 F9 F7 F2 F11 ADAMTS13
3 endopeptidase activity GO:0004175 9.58 F9 F7 ADAMTS13
4 serine-type peptidase activity GO:0008236 9.56 F9 F7 F2 F11
5 protease binding GO:0002020 9.46 VWF SERPINC1 ITGB3 F3
6 fibrinogen binding GO:0070051 9.32 ITGB3 ITGA2B
7 serine-type endopeptidase activity GO:0004252 9.02 F9 F7 F3 F2 F11

Sources for Inherited Blood Coagulation Disease

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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