Mild Hemophilia a disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MalaCards based summary: Mild Hemophilia a, also known as mild hereditary factor viii deficiency disease, is related to hemophilia a and hemophilia. An important gene associated with Mild Hemophilia a is F8 (Coagulation Factor VIII), and among its related pathways are Response to elevated platelet cytosolic Ca2+ and Formation of Fibrin Clot (Clotting Cascade). Affiliated tissues include testes.

Related Diseases for Mild Hemophilia a

Sources:
²⁰GeneAnalytics, ²¹GeneCards
See all MalaCards sources

Diseases in the Mild Hemophilia a family:

Mild Hemophilia B

Diseases related to Mild Hemophilia a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)

id	Related Disease	Score	Top Affiliating Genes
1	hemophilia a	10.4
2	hemophilia	10.4
3	acrodysplasia scoliosis	10.0	F10, F8
4	scapuloperoneal myopathy, x-linked dominant	10.0	F10, F8
5	pregnancy loss, recurrent 2	10.0	F10, F8
6	vcl-related familial hypertrophic cardiomyopathy	9.9	F8, VWF
7	vcp-related amyotrophic lateral sclerosis/frontotemporal dementia	9.9	F8, VWF
8	headache	9.9	F8, VWF
9	vcl-related dilated cardiomyopathy	9.9	F8, VWF
10	acromegaloid hypertrichosis syndrome	9.9	F8, VWF
11	alpha-2-macroglobulin deficiency	9.9	F8, VWF
12	hypertrichosis	9.9	F8, VWF
13	fletcher factor deficiency	9.9	F8, VWF
14	essential thrombocythemia	9.9	F8, VWF
15	renal adenoma	9.9	F8, VWF
16	oguchi disease-2	9.9	F10, VWF
17	thyroid cancer, anaplastic	9.9	F8, VWF
18	atrophic nonflaccid tympanic membrane	9.9	F8, VWF
19	ocular hyperemia	9.8	F8, VWF
20	pyridoxamine 5'-phosphate oxidase deficiency	9.8	F8, VWF
21	bone development disease	9.8	F10, VWF
22	membranoproliferative glomerulonephritis	9.8	F8, VWF
23	high anorectal malformation	9.7	F10, F8, VWF
24	pineal region meningioma	9.7	F10, F8, VWF
25	myotonic dystrophy	9.7	F10, F8, VWF
26	otopalatodigital syndrome, type i	9.7	F10, F8, VWF
27	pregnancy loss, recurrent 1	9.7	F10, F8, VWF
28	aids dementia complex	9.7	F10, F8, VWF
29	immunodeficiency, common variable, 6	9.7	F10, F8, VWF
30	myeloproliferative neoplasm	9.7	F10, F8, VWF
31	perichondritis of auricle	9.7	F10, F8, VWF
32	giant papillary conjunctivitis	9.7	F8, VWF
33	myocardial infarction	9.6	F10, F8, VWF
34	von willebrand's disease	9.6
35	fibromatosis	9.6
36	type 2n von willebrand disease	9.6

Graphical network of the top 20 diseases related to Mild Hemophilia a:

Symptoms & Phenotypes for Mild Hemophilia a

Drugs & Therapeutics for Mild Hemophilia a

Sources:
¹BitterDB, ⁴ClinicalTrials, ¹⁰DGIdb, ¹⁴DrugBank, ²⁹HMDB, ³³IUPHAR, ⁵⁰Novoseek, ⁵⁶PharmGKB
See all MalaCards sources

Drugs for Mild Hemophilia a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)

id

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Hemostatics

Phase 4, Phase 2, Phase 1

1443

2

Natriuretic Agents

Phase 4, Phase 2, Phase 1

1697

3

Vasopressins

Phase 4, Phase 2, Phase 1

294

4

Pharmaceutical Solutions

Phase 4

8192

5

Deamino Arginine Vasopressin

Phase 4, Phase 2, Phase 1

77

6

Coagulants

Phase 4, Phase 2, Phase 1

1500

7

Factor VIII

Phase 4, Phase 2, Phase 1

316

8

Arginine Vasopressin

Phase 4, Phase 2, Phase 1

299

9

arginine

Nutraceutical

Phase 4, Phase 2, Phase 1

425

10

Immunoglobulins

Phase 3

6394

11

Antibodies

Phase 3

6394

12

Immunoglobulin Fc Fragments

Phase 3

43

13

Oprelvekin

approved, investigational

Phase 2

17

145941-26-0

Synonyms:

145941-26-0

AGIF

Adipogenesis inhibitory factor

D05266

IL-11

Interleukin-11 precursor

Neumega

Neumega (TN)

Oprelvekin

Oprelvekin (USAN/INN)

Oprelvekin (genetical recombination)

Oprelvekin (genetical recombination) (JAN)

14

protease inhibitors

5471

Synonyms:

protease inhibitors

15

Serine Proteinase Inhibitors

878

16

Thrombin

304

17

Thromboplastin

63

18

Lipoprotein-associated coagulation inhibitor

8

19

HIV Protease Inhibitors

5470

20

Antithrombins

697

21

Factor Xa Inhibitors

411

22

Anticoagulants

2623

23

Fibrinolytic Agents

2388

24

Antithrombin III

690

25

serine

Nutraceutical

954

Interventional clinical trials:

(show all 21)

id	Name	Status	NCT ID	Phase
1	Post Marketing Study in Haemophilia B Patients Using Nonafact® (Human Coagulation Factor IX)	Completed	NCT00139828	Phase 4
2	High Dose of Activated Recombinant Human Factor VII for Treatment of Mild/Moderate Joint Bleeds in Haemophilia Patients With Inhibitors	Completed	NCT00571584	Phase 4
3	Impact of Conservative Treatment by Custom-made Orthoses in Patients With Haemophilic Ankle Arthropathy	Completed	NCT00638001	Phase 4
4	DDAVP vs. Exercise	Not yet recruiting	NCT03136003	Phase 4
5	Study of Recombinant Factor IX Fc Fusion Protein (rFIXFc) in Participants With Hemophilia B	Completed	NCT01027364	Phase 3
6	Efficacy and Safety of IL-11 in DDAVP Unresponsive	Completed	NCT00994929	Phase 2
7	Allogenic Bone Marrow Derived Mesenchymal Stem Cell Therapy in Cases of Hemophilia	Unknown status	NCT02108132	Phase 1
8	Characterization of Laboratory Response to DDAVP in Adult Hemophilia A Carriers	Enrolling by invitation	NCT02506023	Phase 1
9	Tissue Factor Pathway Inhibitor (TFPI) and Haemorrhagic Manifestations in Haemophilia A and B Patients	Completed	NCT02540187
10	Inhibitor Development in Patients With Hemophilia A Undergoing Surgery	Completed	NCT01571934
11	Observational Registry of NovoSeven® Used as On-demand Treatment of Bleeds in Patients With Haemophilia A and B With Inhibitors	Completed	NCT00703911
12	Project to Update the Study of Congenital Haemophilia in Spain	Completed	NCT01959555
13	Females With Severe or Moderate Hemophilia A or B: an International Multi-center Study	Completed	NCT00936312
14	Gait Evaluation in Haemophiliac Patients	Completed	NCT00824798
15	The Hemophilia Ultrasound Project	Recruiting	NCT02807753
16	The European Paediatric Network for Haemophilia Management ( PedNet Registry)	Recruiting	NCT02979119
17	Treatment Patterns And Outcomes In Patients Treated With Benefix Or Refacto/Refacto AF - A Swedish Cohort Study	Active, not recruiting	NCT02740413
18	Outcomes of Prophylaxis and On-demand Treatment for Severe Hemophiliacs and Collection of Baseline Data in Hemophiliacs in Taiwan	Enrolling by invitation	NCT02908243
19	Platelet Function in Patients With Hemophilia A	Enrolling by invitation	NCT02093065
20	Bleeding Risk Evaluation in Haemophilia Patients Under Antiplatelet Therapies	Not yet recruiting	NCT03157154
21	Non Neutralizing Antibodies: Prevalence and Characterization	Withdrawn	NCT01541527

Search NIH Clinical Center for Mild Hemophilia a

Genetic Tests for Mild Hemophilia a

Anatomical Context for Mild Hemophilia a

Sources:
³⁶MalaCards
See all MalaCards sources

MalaCards organs/tissues related to Mild Hemophilia a:

³⁶

Testes

Publications for Mild Hemophilia a

Sources:
⁵⁷PubMed
See all MalaCards sources

Articles related to Mild Hemophilia a:

(show all 37)

id	Title	Authors	Year
1	Emerging Issues in Diagnosis, Biology, and Inhibitor Risk in Mild Hemophilia A. (27148839)	Castaman G.... Fijnvandraat K.	2016
2	Prevalence of IVS10nt-18G/A in Calabrian patients with moderate/mild hemophilia A and relation with Factor VIII inhibitor antibodies. (26182242)	PrejanA^ S.... Iannaccaro P.	2015
3	Mild hemophilia A patient with novel Pro1809Leu mutation develops an anti-C2 antibody inhibiting allogeneic but not autologous factor VIII activity. (26278069)	Yada K.... Shima M.	2015
4	Overrepresentation of missense mutations in mild hemophilia A patients from Belgium: founder effect or independent occurrence? (25824987)	Lannoy N.... Hermans C.	2015
5	Life-threatening bleeding in a patient with mild hemophilia A and heterozygosity for von Willebrand disease Type 2N. (25212677)	Allan J.N.... DeSancho M.T.	2014
6	Desmopressin responsiveness at a capped dose of 15a88I1g in type 1 von Willebrand disease and mild hemophilia A. (24911459)	Siew D.A.... Minuk L.	2014
7	Molecular and clinical predictors of inhibitor risk and its prevention and treatment in mild hemophilia A. (25139352)	Castaman G.... Fijnvandraat K.	2014
8	Co-inheritance of mild hemophilia A and heterozygosity for type 2N von Willebrand disease: a diagnostic and therapeutic challenge. (24706524)	Lindsay H.... Srivaths L.	2014
9	Specific and global coagulation assays in the diagnosis of discrepant mild hemophilia A. (23812942)	Bowyer A.E.... Makris M.	2013
10	Clinical efficacy and determinants of response to treatment with desmopressin in mild hemophilia a. (24030345)	Di Perna C.... Tagliaferri A.	2013
11	Diagnostic testing for mild hemophilia a in patients with discrepant one-stage, two-stage, and chromogenic factor VIII:C assays. (23460037)	Duncan E.M.... McRae S.J.	2013
12	Deep intronic variations may cause mild hemophilia A. (21689372)	Castaman G.... Rodeghiero F.	2011
13	Prevalence, biological phenotype and genotype in moderate/mild hemophilia A with discrepancy between one-stage and chromogenic factor VIII activity. (21166991)	TrossaArt M.... Bezieau S.	2011
14	The use of desmopressin in mild hemophilia A. (20829683)	Franchini M.... Lippi G.	2010
15	Mild hemophilia A. (19995408)	Franchini M.... Lippi G.	2010
16	Characterization of a novel mutation in the F8 promoter region associated with mild hemophilia A and resistance to DDAVP therapy. (19422439)	Riccardi F.... Tagliaferri A.	2009
17	Molecular and phenotypic determinants of the response to desmopressin in adult patients with mild hemophilia A. (19719828)	Castaman G.... Rodeghiero F.	2009
18	Factor VIII-von Willebrand factor binding defects in autosomal recessive von Willebrand disease type Normandy and in mild hemophilia A. New insights into factor VIII-von Willebrand factor interactions. (19506355)	Jacquemin M.	2009
19	Maxillary hemophilic pseudotumor in a patient with mild hemophilia A. (18799938)	Lima G.S.... Dias E.P.	2008
20	Health-related quality of life in a cohort of adult patients with mild hemophilia A. (18284605)	Walsh M.... Scully M.F.	2008
21	Mild hemophilia A with factor VIII assay discrepancy: using thrombin generation assay to assess the bleeding phenotype. (18047548)	TrossaArt M.... Lecompte T.	2008
22	Founder haplotype associated with the factor VIII Asp1241Glu polymorphism in a cohort of mild hemophilia A patients. (18419741)	CasaA+a P.... Aznar J.A.	2008
23	Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia A in southern Italy. (18388498)	Santacroce R.... Margaglione M.	2008
24	Superficial fibromatosis mimicking subcutaneous hematoma: an unusual and difficult diagnosis in a patient with mild hemophilia A. (17261494)	Sakurai Y.... Yoshioka A.	2007
25	Exon skipping partially restores factor VIII coagulant activity in patients with mild hemophilia A with exon 13 duplication. (15996947)	Acquila M.... Bicocchi M.P.	2005
26	Deletion of alanine 2201 in the FVIII C2 domain results in mild hemophilia A by impairing FVIII binding to VWF and phospholipids and destroys a major FVIII antigenic determinant involved in inhibitor development. (12969981)	d'Oiron R.... Jacquemin M.	2004
27	Desmopressin in mild hemophilia A: indications, limitations, efficacy, and safety. (12640572)	Lethagen S.	2003
28	Evaluation of high concentration intranasal and intravenous desmopressin in pediatric patients with mild hemophilia A or mild-to-moderate type 1 von Willebrand disease. (12032528)	Gill J.C.... Schwartz B.	2002
29	Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. (12351418)	Valleix S.... Negrier C.	2002
30	A founder factor VIII mutation, valine 2016 to alanine, in a population with an extraordinarily high prevalence of mild hemophilia A. (11848452)	Xie Y.G.... Lillicrap D.	2002
31	Successful treatment of high titer inhibitors in mild hemophilia A with avoidance of factor VIII and immunosuppressive therapy. (11754400)	Robbins D.... Penner J.A.	2001
32	Antifactor VIII antibody inhibiting allogeneic but not autologous factor VIII in patients with mild hemophilia A. (10090936)	Peerlinck K.... Vermylen J.	1999
33	Mild hemophilia A caused by increased rate of factor VIII A2 subunit dissociation: evidence for nonproteolytic inactivation of factor VIIIa in vivo. (9864159)	Pipe S.W.... Kaufman R.J.	1999
34	Factor VIII Ise (R2159C) in a patient with mild hemophilia A, an abnormal factor VIII with retention of function but modification of C2 epitopes. (9184393)	Suzuki H.... Yoshioka A.	1997
35	Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis. (1301960)	Jonsdottir S.... Gitschier J.	1992
36	Intranasal desmopressin (DDAVP) by spray in mild hemophilia A and von Willebrand's disease type I. (2107887)	Lethagen S.... Nilsson I.M.	1990
37	Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene. (2495245)	Inaba H.... Antonarakis S.E.	1989

Genes related to Mild Hemophilia a

Sources:
²¹GeneCards, ⁵⁴Orphanet
See all MalaCards sources

Genes related to Mild Hemophilia a (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication
1	F8	Coagulation Factor VIII	378.95	Causative germline mutation ⁵⁴ GeneCards inferred via : Disorders, Publications (show sections)
2	VWF	Von Willebrand Factor	28.02	GeneCards inferred via : Disorders, Publications (show sections)
3	F10	Coagulation Factor X	27.44	GeneCards inferred via : Disorders, Publications (show sections)

Variations for Mild Hemophilia a

Expression for genes affiliated with Mild Hemophilia a

Sources:
¹⁸Gene Expression Omnibus DataSets
See all MalaCards sources

Search GEO for disease gene expression data for Mild Hemophilia a.

Pathways for genes affiliated with Mild Hemophilia a

Sources:
³⁴KEGG, ⁴²NCBI BioSystems Database, ⁵⁵PathCards, ⁵⁸QIAGEN, ⁵⁹R&D Systems, ⁶⁰Reactome
See all MalaCards sources

Pathways related to Mild Hemophilia a according to GeneCards Suite gene sharing:

id	Super pathways	Score	Top Affiliating Genes
1	Response to elevated platelet cytosolic Ca2+⁶⁰ Show member pathways Hemostasis⁶⁰ Platelet activation, signaling and aggregation⁶⁰ Platelet degranulation⁶⁰ Disinhibition of SNARE formation⁶⁰	8.5	F10, F8, VWF
2	Formation of Fibrin Clot (Clotting Cascade)⁶⁰ Show member pathways Blood Coagulation Signaling Pathways⁵⁹ Intrinsic Pathway of Fibrin Clot Formation⁶⁰ Blood Clotting Cascade⁴² Common Pathway of Fibrin Clot Formation⁶⁰ Extrinsic Prothrombin Activation Pathway⁵⁸ Extrinsic Pathway of Fibrin Clot Formation⁶⁰	8.5	F10, F8, VWF
3	Complement and coagulation cascades³⁴ ⁴² Show member pathways Complement and Coagulation Cascades⁴²	8.5	F10, F8, VWF

GO Terms for genes affiliated with Mild Hemophilia a

Sources:
¹⁹Gene Ontology
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Cellular components related to Mild Hemophilia a according to GeneCards Suite gene sharing:

id	Name	GO ID	Score	Top Affiliating Genes
1	endoplasmic reticulum lumen	GO:0005788	9.8	F10, F8
2	platelet alpha granule lumen	GO:0031093	9.0	F8, VWF

Biological processes related to Mild Hemophilia a according to GeneCards Suite gene sharing:

id	Name	GO ID	Score	Top Affiliating Genes
1	ER to Golgi vesicle-mediated transport	GO:0006888	9.9	F10, F8
2	platelet activation	GO:0030168	9.6	F8, VWF
3	blood coagulation	GO:0007596	9.2	F10, F8, VWF
4	blood coagulation, intrinsic pathway	GO:0007597	9.2	F10, F8, VWF
5	hemostasis	GO:0007599	9.1	F10, F8, VWF
6	platelet degranulation	GO:0002576	9.0	F8, VWF