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

MalaCards based summary: Mild Hemophilia a, also known as mild hereditary factor viii deficiency disease, is related to type 2n von willebrand disease and hemophilia a. An important gene associated with Mild Hemophilia a is F8 (Coagulation Factor VIII), and among its related pathways are Collagen biosynthesis and modifying enzymes and Platelet activation, signaling and aggregation. Affiliated tissues include prostate, bone and skeletal muscle.

Related Diseases for Mild Hemophilia a

Sources:
²⁰GeneCards, ¹⁹GeneAnalytics
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 31)

id	Related Disease	Score	Top Affiliating Genes
1	type 2n von willebrand disease	29.2	F8, VWF
2	hemophilia a	10.5
3	hemophilia	10.5
4	acquired hemophilia a	10.0	F10, F8
5	factor viii deficiency	10.0
6	tyrobp-related polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	9.7	F8, VWF
7	acral dysostosis dyserythropoiesis syndrome	9.7	F8, VWF
8	von willebrand's disease	9.7
9	fibromatosis	9.7
10	type 2m von willebrand disease	9.7	F8, VWF
11	von willibrand disease, type 3	9.7	F8, VWF
12	dysthymic disorder	9.7	F8, VWF
13	factor v deficiency	9.7	F10, VWF
14	blood platelet disease	9.7	F8, VWF
15	skeletal muscle regeneration	9.7	F8, VWF
16	myoma	9.6	F8, VWF
17	thumb absent short stature immune deficiency	9.6	F8, VWF
18	capillariasis	9.6	F8, VWF
19	tongue squamous cell carcinoma	9.5	F10, VWF
20	hypermobility of coccyx	9.5	F8, VWF
21	angular blepharoconjunctivitis	9.3	F8, VWF
22	severe hemophilia a	9.3	F10, F8, VWF
23	benign pericardial teratoma	9.3	F10, F8, VWF
24	heterotopia, periventricular	9.3	F10, F8, VWF
25	thrombophilia due to activated protein c resistance	9.3	F10, F8, VWF
26	agammaglobulinemia x-linked type 2	9.3	F10, F8, VWF
27	stickler syndrome col2a1	9.3	F10, F8, VWF
28	pregnancy loss, recurrent 2	9.3	F10, F8, VWF
29	perichondritis of auricle	9.3	F10, F8, VWF
30	vitamin k deficiency hemorrhagic disease	9.3	F10, VWF
31	myocardial infarction	8.9	F10, F8, VWF

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

Symptoms for Mild Hemophilia a

Drugs & Therapeutics for Mild Hemophilia a

Sources:
⁴⁴NIH Clinical Center, ⁴ClinicalTrials, ¹³DrugBank, ²⁶HMDB, ⁹DGIdb, ⁵³PharmGKB, ³⁰IUPHAR, ⁴⁷Novoseek, ¹BitterDB
See all MalaCards sources

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

(show all 22)

id

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Factor VIII

Phase 4, Phase 2, Phase 1

272

2

Pharmaceutical Solutions

Phase 4

7004

3

Oprelvekin

approved, investigational

Phase 2

16

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)

4

Deamino Arginine Vasopressin

Phase 2, Phase 1

68

5

Coagulants

Phase 1

1042

6

Vasopressins

Phase 1

260

7

Natriuretic Agents

Phase 1

1403

8

Hemostatics

Phase 1

1082

9

Arginine Vasopressin

Phase 1

264

10

arginine

Nutraceutical

Phase 1

364

11

Protease Inhibitors

4558

12

Serine Proteinase Inhibitors

705

13

Thromboplastin

54

14

Lipoprotein-associated coagulation inhibitor

7

15

Thrombin

269

16

Anticoagulants

1760

17

Antithrombins

574

18

Factor Xa Inhibitors

315

19

HIV Protease Inhibitors

4558

20

Fibrinolytic Agents

1567

21

Antithrombin III

563

22

serine

Nutraceutical

770

Interventional clinical trials:

(show all 16)

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	Study of Recombinant Factor IX Fc Fusion Protein (rFIXFc) in Participants With Hemophilia B	Completed	NCT01027364	Phase 3
5	Efficacy and Safety of IL-11 in DDAVP Unresponsive	Completed	NCT00994929	Phase 2
6	Characterization of Laboratory Response to DDAVP in Adult Hemophilia A Carriers	Enrolling by invitation	NCT02506023	Phase 1
7	Allogenic Bone Marrow Derived Mesenchymal Stem Cell Therapy in Cases of Hemophilia	Not yet recruiting	NCT02108132	Phase 1
8	Tissue Factor Pathway Inhibitor (TFPI) and Haemorrhagic Manifestations in Haemophilia A and B Patients	Completed	NCT02540187
9	Observational Registry of NovoSeven® Used as On-demand Treatment of Bleeds in Patients With Haemophilia A and B With Inhibitors	Completed	NCT00703911
10	Project to Update the Study of Congenital Haemophilia in Spain	Completed	NCT01959555
11	Females With Severe or Moderate Hemophilia A or B: an International Multi-center Study	Completed	NCT00936312
12	Gait Evaluation in Haemophiliac Patients	Completed	NCT00824798
13	Treatment Patterns And Outcomes In Patients Treated With Benefix Or Refacto/Refacto AF - A Swedish Cohort Study	Active, not recruiting	NCT02740413
14	Inhibitor Development in Patients With Hemophilia A Undergoing Surgery	Active, not recruiting	NCT01571934
15	Platelet Function in Patients With Hemophilia A	Enrolling by invitation	NCT02093065
16	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:
³³MalaCards
See all MalaCards sources

MalaCards organs/tissues related to Mild Hemophilia a:

³³

Prostate, Bone, Skeletal muscle, Liver, Lung, Thyroid, Tongue

Animal Models for Mild Hemophilia a or affiliated genes

Publications for Mild Hemophilia a

Sources:
⁵⁴PubMed
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	Clinical efficacy and determinants of response to treatment with desmopressin in mild hemophilia a. (24030345)	Di Perna C.... Tagliaferri A.	2013
10	Specific and global coagulation assays in the diagnosis of discrepant mild hemophilia A. (23812942)	Bowyer A.E.... Makris M.	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	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
13	Deep intronic variations may cause mild hemophilia A. (21689372)	Castaman G.... Rodeghiero F.	2011
14	Mild hemophilia A. (19995408)	Franchini M.... Lippi G.	2010
15	The use of desmopressin in mild hemophilia A. (20829683)	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	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
21	Health-related quality of life in a cohort of adult patients with mild hemophilia A. (18284605)	Walsh M.... Scully M.F.	2008
22	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
23	Mild hemophilia A with factor VIII assay discrepancy: using thrombin generation assay to assess the bleeding phenotype. (18047548)	TrossaArt M.... Lecompte T.	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	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
30	Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. (12351418)	Valleix S.... Negrier C.	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	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
33	Antifactor VIII antibody inhibiting allogeneic but not autologous factor VIII in patients with mild hemophilia A. (10090936)	Peerlinck K.... Vermylen 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:
²⁰GeneCards, ⁵¹Orphanet
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	369.17	Causative germline mutation ⁵¹ GeneCards inferred via : Publications (show sections)
2	VWF	Von Willebrand Factor	18.28	GeneCards inferred via : Publications (show sections)
3	F10	Coagulation Factor X	17.73	GeneCards inferred via : Publications (show sections)

Variations for Mild Hemophilia a

Expression for genes affiliated with Mild Hemophilia a

Sources:
¹⁷Gene 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:
⁵²PathCards, ⁵⁷Reactome, ⁵⁵QIAGEN, ⁵⁶R&D Systems, ³⁹NCBI BioSystems Database, ³¹KEGG
See all MalaCards sources

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

id	Super pathways	Score	Top Affiliating Genes
1	Collagen biosynthesis and modifying enzymes⁵⁷ Show member pathways Collagen formation⁵⁷ Anchoring fibril formation⁵⁷ Assembly of collagen fibrils and other multimeric structures⁵⁷ Crosslinking of collagen fibrils⁵⁷ Blood Coagulation Cascade⁵⁵ Intrinsic Prothrombin Activation Pathway⁵⁵	9.3	F10, F8
2	Platelet activation, signaling and aggregation⁵⁷ Show member pathways Hemostasis⁵⁷ Platelet degranulation⁵⁷ Response to elevated platelet cytosolic Ca2+⁵⁷ Disinhibition of SNARE formation⁵⁷	8.5	F10, F8, VWF
3	Formation of Fibrin Clot (Clotting Cascade)⁵⁷ Show member pathways Intrinsic Pathway of Fibrin Clot Formation⁵⁷ Blood Coagulation Signaling Pathways⁵⁶ Blood Clotting Cascade³⁹ Extrinsic Prothrombin Activation Pathway⁵⁵ Common Pathway of Fibrin Clot Formation⁵⁷ Extrinsic Pathway of Fibrin Clot Formation⁵⁷	8.5	F10, F8, VWF
4	Complement and coagulation cascades³¹ ³⁹ Show member pathways Complement and Coagulation Cascades³⁹	8.5	F10, F8, VWF

GO Terms for genes affiliated with Mild Hemophilia a

Sources:
¹⁸Gene Ontology
See all MalaCards sources

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	9.3	F10, F8

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

id	Name	GO ID	Score	Top Affiliating Genes
1	blood coagulation	GO:0007596	9.4	F10, F8
2	post-translational protein modification	GO:0043687	9.3	F10, F8

Sources for Mild Hemophilia a

¹BitterDB

²CDC

³Cell Signaling Technology

⁴ClinicalTrials

⁵Clinvar

⁶Cochrane Library

⁷Cosmic

⁸dbSNP

⁹DGIdb

¹⁰Disease Ontology

¹¹diseasecard

¹²DISEASES

¹³DrugBank

¹⁴ExPASy

¹⁵FDA

¹⁶FMA

¹⁷Gene Expression Omnibus DataSets

¹⁸Gene Ontology

¹⁹GeneAnalytics

²⁰GeneCards

²¹GeneReviews

²²GeneTests

²³Genetics Home Reference

²⁴GTR

²⁵HGMD

²⁶HMDB

²⁷ICD10

²⁸ICD10 via Orphanet

²⁹ICD9CM

³⁰IUPHAR

³¹KEGG

³²LifeMap Discovery®

³³MalaCards

³⁴MedGen

³⁵MedlinePlus

³⁶MeSH

³⁷MESH via Orphanet

³⁸MGI

³⁹NCBI BioSystems Database

⁴⁰NCBI Bookshelf

⁴¹NCI

⁴²NCIt

⁴³NDF-RT

⁴⁴NIH Clinical Center

⁴⁵NIH Rare Diseases

⁴⁶NINDS

⁴⁷Novoseek

⁴⁸Novus Biologicals

⁴⁹OMIM

⁵⁰OMIM via Orphanet

⁵¹Orphanet

⁵²PathCards

⁵³PharmGKB

⁵⁴PubMed

⁵⁵QIAGEN

⁵⁶R&D Systems

⁵⁷Reactome

⁵⁸SinoBiological

⁵⁹SNOMED-CT

⁶⁰SNOMED-CT via Orphanet

⁶¹The Human Phenotype Ontology

⁶²Thomson Reuters

⁶³Tocris Bioscience

⁶⁴Tumor Gene Family of Databases

⁶⁵UMLS

⁶⁶UMLS via Orphanet

⁶⁷UniProtKB/Swiss-Prot

⁶⁸Wikipedia

MCID: MLD013 MIFTS: 33	Mild Hemophilia a malady Categories: Blood diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Drugs Download this MalaCard Expand all tables

Mild Hemophilia a malady

Aliases & Classifications for Mild Hemophilia a

Aliases & Descriptions for Mild Hemophilia a:

Characteristics:

Orphanet epidemiological data:

Classifications:

External Ids:

Summaries for Mild Hemophilia a

Related Diseases for Mild Hemophilia a

Diseases in the Mild Hemophilia a family:

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

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

Symptoms for Mild Hemophilia a

Drugs & Therapeutics for Mild Hemophilia a

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

Interventional clinical trials:

Genetic Tests for Mild Hemophilia a

Anatomical Context for Mild Hemophilia a

MalaCards organs/tissues related to Mild Hemophilia a:

Animal Models for Mild Hemophilia a or affiliated genes

Publications for Mild Hemophilia a

Articles related to Mild Hemophilia a:

Genes related to Mild Hemophilia a

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

Variations for Mild Hemophilia a

Expression for genes affiliated with Mild Hemophilia a

Pathways for genes affiliated with Mild Hemophilia a

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

GO Terms for genes affiliated with Mild Hemophilia a

Cellular components related to Mild Hemophilia a according to GeneCards Suite gene sharing:

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

Sources for Mild Hemophilia a