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

Summaries for Mild Hemophilia a

MalaCards based summary: Mild Hemophilia a, also known as mild factor viii deficiency, is related to factor viii deficiency and von willebrand's disease. An important gene associated with Mild Hemophilia a is F8 (coagulation factor VIII, procoagulant component), and among its related pathways are Response to elevated platelet cytosolic Ca2+ and Collagen biosynthesis and modifying enzymes. The compounds recombinate and tributylphosphate have been mentioned in the context of this disorder. Affiliated tissues include testes.

Aliases & Classifications for Mild Hemophilia a

Sources:
⁴⁸Orphanet, ⁶¹UMLS, ²⁷ICD10 via Orphanet, ⁶²UMLS via Orphanet
See all sources

Mild Hemophilia a, Aliases & Descriptions:

Name: Mild Hemophilia a ⁴⁸

Mild Factor Viii Deficiency ⁴⁸ ⁶¹

Mild Hereditary Factor Viii Deficiency Disease ⁶¹

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Blood diseases

ICD10: ²⁷

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Coagulation defects, purpura and other haemorrhagic conditions

Hereditary factor VIII deficiency

Orphanet: ⁴⁸

Rare haematological diseases

Characteristics (Orphanet epidemiological data):

⁴⁸

mild factor viii deficiency:
Inheritance: X-linked recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy

External Ids:

ICD10 via Orphanet²⁷ D66

UMLS via Orphanet⁶² C0272324

Related Diseases for Mild Hemophilia a

Sources:
¹⁸GeneCards, ¹⁹GeneDecks
See all sources

Diseases in the Mild Hemophilia a family:

Mild Hemophilia B

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

(show all 46)

id	Related Disease	Score	Top Affiliating Genes
1	factor viii deficiency	31.2	F8
2	von willebrand's disease	30.4	VWF, F8
3	hemophilia	10.9
4	factor xii deficiency	10.4	VWF
5	factor xi deficiency	10.4	F8
6	type 1 von willebrand disease	10.3
7	intracranial thrombosis	10.1	VWF, F8
8	blood platelet disease	10.1	VWF, F8
9	fibromatosis	10.1
10	type 2n von willebrand disease	10.1
11	thrombotic thrombocytopenic purpura, acquired	10.1	VWF, F8
12	bernard-soulier syndrome	10.1	VWF, F8
13	hyperhomocysteinemia	10.1	VWF, F8
14	prion disease	10.1	F8, VWF
15	hypersensitivity reaction type ii disease	10.1	F8, VWF
16	hypothyroidism	10.1	F8, VWF
17	congenital heart disease	10.0	F8, VWF
18	thrombocytosis	10.0	F10, VWF
19	vascular disease	10.0	F8, VWF
20	factor vii deficiency	10.0	F10, F8
21	hemophilia b	10.0	F10, F8
22	pregnancy loss	10.0	F10, F8
23	disseminated intravascular coagulation	10.0	F8, F10
24	insulin resistance	10.0	VWF, F8
25	viral hepatitis	10.0	F10, F8
26	acute myocardial infarction	9.9	VWF, F10
27	hypercholesterolemia	9.9	F10, F8
28	hepatitis	9.8	F10, F8
29	coronary artery anomaly	9.8	F10, VWF
30	type 2 diabetes mellitus	9.8	F8, VWF
31	hemarthrosis	9.8	F8, F10, VWF
32	hemorrhagic disease	9.8	F8, F10, VWF
33	afibrinogenemia	9.8	VWF, F10, F8
34	glanzmann's thrombasthenia	9.8	F8, F10, VWF
35	antiphospholipid syndrome	9.8	F8, F10, VWF
36	thrombophilia	9.8	VWF, F10, F8
37	thromboembolism	9.8	F8, F10, VWF
38	venous thrombosis	9.8	F8, F10, VWF
39	thrombocytopenia	9.8	VWF, F10, F8
40	factor v leiden thrombophilia	9.8	F8, F10, VWF
41	pre-eclampsia	9.8	F8, F10, VWF
42	cerebrovascular disease	9.8	F8, F10, VWF
43	myocardial infarction	9.8	F8, F10, VWF
44	systemic lupus erythematosus	9.8	VWF, F10, F8
45	primary hyperoxaluria	9.8	VWF, F10, F8
46	diabetes mellitus	9.8	F8, F10, 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:
⁴¹NIH Clinical Center, ⁶ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Mild Hemophilia a

Search NIH Clinical Center for Mild Hemophilia a

Genetic Tests for Mild Hemophilia a

Anatomical Context for Mild Hemophilia a

Sources:
³²MalaCards
See all sources

MalaCards organs/tissues related to Mild Hemophilia a:

³²

Testes

Animal Models for Mild Hemophilia a or affiliated genes

Publications for Mild Hemophilia a

Sources:
⁵¹PubMed
See all sources

Articles related to Mild Hemophilia a:

(show all 33)

id	Title	Authors	Year
1	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
2	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
3	Molecular and clinical predictors of inhibitor risk and its prevention and treatment in mild hemophilia A. (25139352)	Castaman G.... Fijnvandraat K.	2014
4	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
5	Clinical efficacy and determinants of response to treatment with desmopressin in mild hemophilia a. (24030345)	Di Perna C.... Tagliaferri A.	2013
6	Specific and global coagulation assays in the diagnosis of discrepant mild hemophilia A. (23812942)	Bowyer A.E.... Makris M.	2013
7	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
8	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
9	Deep intronic variations may cause mild hemophilia A. (21689372)	Castaman G.... Rodeghiero F.	2011
10	Mild hemophilia A. (19995408)	Franchini M.... Lippi G.	2010
11	The use of desmopressin in mild hemophilia A. (20829683)	Franchini M.... Lippi G.	2010
12	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
13	Molecular and phenotypic determinants of the response to desmopressin in adult patients with mild hemophilia A. (19719828)	Castaman G.... Rodeghiero F.	2009
14	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
15	Maxillary hemophilic pseudotumor in a patient with mild hemophilia A. (18799938)	Lima G.S.... Dias E.P.	2008
16	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
17	Health-related quality of life in a cohort of adult patients with mild hemophilia A. (18284605)	Walsh M.... Scully M.F.	2008
18	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
19	Mild hemophilia A with factor VIII assay discrepancy: using thrombin generation assay to assess the bleeding phenotype. (18047548)	TrossaArt M.... Lecompte T.	2008
20	Superficial fibromatosis mimicking subcutaneous hematoma: an unusual and difficult diagnosis in a patient with mild hemophilia A. (17261494)	Sakurai Y.... Yoshioka A.	2007
21	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
22	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
23	Desmopressin in mild hemophilia A: indications, limitations, efficacy, and safety. (12640572)	Lethagen S.	2003
24	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
25	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
26	Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. (12351418)	Valleix S.... Negrier C.	2002
27	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
28	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
29	Antifactor VIII antibody inhibiting allogeneic but not autologous factor VIII in patients with mild hemophilia A. (10090936)	Peerlinck K.... Vermylen J.	1999
30	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
31	Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis. (1301960)	Jonsdottir S.... Gitschier J.	1992
32	Intranasal desmopressin (DDAVP) by spray in mild hemophilia A and von Willebrand's disease type I. (2107887)	Lethagen S.... Nilsson I.M.	1990
33	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:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals, ⁴⁸Orphanet
See all sources

Genes related to Mild Hemophilia a:

- Elite gene

id	Symbol	Description	Score	Implication
1	F8	coagulation factor VIII, procoagulant component	23.56	Causative germline mutation ⁴⁸ GeneCards inferred via : Publications (show sections)
2	F10	coagulation factor X	16.89	GeneCards inferred via : Publications (show sections)
3	VWF	von Willebrand factor	10.23	GeneCards inferred via : Publications (show sections)

Products for genes related to Mild Hemophilia a disease:

id	Company	Proteins	Lysates	Antibodies	Kits and Assays
1	Antibodies-online	3	-	3	3
2	Novus Biologicals	3	3	3	-

Variations for Mild Hemophilia a

Expression for genes affiliated with Mild Hemophilia a

Sources:
²BioGPS, ¹⁶Gene Expression Omnibus DataSets
See all sources

Expression patterns in normal tissues for genes affiliated with Mild Hemophilia a

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

Pathways for genes affiliated with Mild Hemophilia a

Sources:
⁴⁹PathCards, ⁵⁴Reactome, ⁵²QIAGEN, ³⁰KEGG, ³⁷NCBI BioSystems Database, ⁵³R&D Systems
See all sources

Pathways related to Mild Hemophilia a according to GeneCards/GeneDecks:

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Response to elevated platelet cytosolic Ca2+⁵⁴ Show member pathways Platelet degranulation⁵⁴ Disinhibition of SNARE formation⁵⁴	9.3	F8, VWF
2	Collagen biosynthesis and modifying enzymes⁵⁴ Show member pathways Anchoring fibril formation⁵⁴ Blood Coagulation Cascade⁵² Collagen formation⁵⁴ Crosslinking of collagen fibrils⁵⁴ Intrinsic Prothrombin Activation Pathway⁵² Assembly of collagen fibrils and other multimeric structures⁵⁴	9.0	F8, F10
3	Hemostasis⁵⁴ Show member pathways Platelet activation, signaling and aggregation⁵⁴	8.5	VWF, F10, F8
4	Complement and coagulation cascades³⁰ Show member pathways Complement Activation, Classical Pathway³⁷ Complement and Coagulation Cascades³⁷	8.5	F8, F10, VWF
5	Formation of Fibrin Clot (Clotting Cascade)⁵⁴ Show member pathways Common Pathway⁵⁴ Blood Clotting Cascade³⁷ Extrinsic Pathway⁵⁴ Intrinsic Pathway⁵⁴ Extrinsic Prothrombin Activation Pathway⁵² Blood Coagulation Signaling Pathways⁵³	8.5	F8, F10, VWF

Compounds for genes affiliated with Mild Hemophilia a

Sources:
⁴⁴Novoseek, ¹²DrugBank, ⁶⁰Tocris Bioscience, ²⁹IUPHAR, ⁵⁰PharmGKB, ²⁵HMDB, ³BitterDB
See all sources

Compounds related to Mild Hemophilia a according to GeneCards/GeneDecks:

(show top 50) (show all 64)

id	Compound	Score	Top Affiliating Genes
1	recombinate⁴⁴	9.8	F8, VWF
2	tributylphosphate⁴⁴	9.8	VWF, F8
3	kogenate⁴⁴	9.8	VWF, F8
4	hydroxyethyl starch⁴⁴	9.8	F8, VWF
5	tranexamic acid⁴⁴ ¹²	10.7	F8, VWF
6	ristocetin⁴⁴	9.7	VWF, F8
7	desmopressin⁴⁴ ⁶⁰ ²⁹ ¹²	12.7	F8, VWF
8	ivig⁴⁴	9.6	F8, VWF
9	rituximab⁴⁴ ⁵⁰ ¹²	11.6	F8, VWF
10	thromboxane a2⁴⁴ ²⁵	10.6	VWF, F8
11	tinzaparin⁴⁴ ¹²	10.6	F10, VWF
12	ppack⁴⁴	9.5	F10, VWF
13	tirofiban⁴⁴ ¹²	10.5	VWF, F10
14	abciximab⁴⁴ ¹²	10.5	F10, VWF
15	guanidine⁴⁴ ²⁵ ¹²	11.5	F10, VWF
16	clopidogrel⁴⁴ ⁵⁰ ²⁵ ¹²	12.5	VWF, F10
17	leupeptin⁴⁴	9.5	F10, VWF
18	dermatan sulfate⁴⁴	9.5	F10, VWF
19	kaolin⁴⁴	9.5	F8, F10
20	latex⁴⁴	9.4	F8, VWF
21	cacl2⁴⁴	9.4	F8, F10
22	guanidine hydrochloride⁴⁴	9.4	VWF, F10
23	cardiolipin⁴⁴ ¹²	10.4	F8, F10
24	aprotinin⁴⁴ ¹²	10.3	F10, VWF
25	homocysteine⁴⁴ ²⁵	10.3	VWF, F8
26	agarose⁴⁴	9.3	F8, VWF
27	n-ethylmaleimide⁴⁴ ¹²	10.3	F10, VWF
28	prednisolone⁴⁴ ²⁹ ¹²	11.2	F8, VWF
29	polyethylene glycol⁴⁴	9.2	F10, F8
30	biotin⁴⁴ ²⁵ ¹²	11.2	F10, VWF
31	rfviii⁴⁴	9.0	F8, F10, VWF
32	hirudin⁴⁴	9.0	F8, F10, VWF
33	warfarin⁴⁴ ⁵⁰ ²⁵ ¹²	12.0	VWF, F10, F8
34	acetaminophen⁴⁴ ³ ⁵⁰ ²⁵ ¹²	13.0	F8, F10, VWF
35	citrate⁴⁴	8.9	F8, F10, VWF
36	phosphatidylserine⁴⁴ ²⁹ ¹²	10.9	VWF, F10, F8
37	aspirin⁴⁴ ⁵⁰ ²⁹ ²⁵	11.9	VWF, F10, F8
38	fibrinogen⁴⁴	8.9	VWF, F10, F8
39	phospholipid⁴⁴	8.9	F8, F10, VWF
40	glutamine⁴⁴	8.9	F8, F10, VWF
41	lactate⁴⁴	8.9	F8, F10, VWF
42	aspartate⁴⁴	8.9	F8, F10, VWF
43	heparin⁴⁴ ²⁹ ²⁵ ¹²	11.9	VWF, F10, F8
44	vegf⁴⁴	8.8	VWF, F10, F8
45	carbohydrates⁴⁴	8.8	F10, VWF
46	arginine⁴⁴	8.8	F8, F10, VWF
47	alanine⁴⁴	8.8	VWF, F10, F8
48	adp⁴⁴ ²⁹ ²⁵	10.8	F8, F10, VWF
49	estrogen⁴⁴	8.8	F8, F10, VWF
50	cysteine⁴⁴	8.7	F8, F10, VWF

GO Terms for genes affiliated with Mild Hemophilia a

Sources:
¹⁷Gene Ontology
See all sources

Cellular components related to Mild Hemophilia a according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	platelet alpha granule lumen	GO:031093	9.0	F8, VWF
2	extracellular region	GO:005576	8.5	F8, F10, VWF

Biological processes related to Mild Hemophilia a according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	platelet activation	GO:030168	9.3	F8, VWF
2	platelet degranulation	GO:002576	9.0	F8, VWF
3	blood coagulation, intrinsic pathway	GO:007597	8.5	F8, F10, VWF
4	blood coagulation	GO:007596	8.4	VWF, F10, F8

Molecular functions related to Mild Hemophilia a according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	serine-type endopeptidase activity	GO:004252	9.0	F8, F10

Products for genes affiliated with Mild Hemophilia a

Antibodies
Proteins
Lysates

Antibodies
Proteins
Kits and Assays

Sources for Mild Hemophilia a

¹antibodies-online

²BioGPS

³BitterDB

⁴CDC

⁵Cell Signaling Technology

⁶ClinicalTrials

⁷Clinvar

⁸dbSNP

⁹Disease Ontology

¹⁰diseasecard

¹¹DISEASES

¹²DrugBank

¹³EMD Millipore

¹⁴ExPASy

¹⁵FMA

¹⁶Gene Expression Omnibus DataSets

¹⁷Gene Ontology

¹⁸GeneCards

¹⁹GeneDecks

²⁰GeneReviews

²¹GeneTests

²²Genetics Home Reference

²³GTR

²⁴HGMD

²⁵HMDB

²⁶ICD10

²⁷ICD10 via Orphanet

²⁸ICD9CM

²⁹IUPHAR

³⁰KEGG

³¹LifeMap Discovery®

³²MalaCards

³³MedlinePlus

³⁴MeSH

³⁵MESH via Orphanet

³⁶MGI

³⁷NCBI BioSystems Database

³⁸NCBI Bookshelf

³⁹NCIt

⁴⁰NDF-RT

⁴¹NIH Clinical Center

⁴²NIH Rare Diseases

⁴³NINDS

⁴⁴Novoseek

⁴⁵Novus Biologicals

⁴⁶OMIM

⁴⁷OMIM via Orphanet

⁴⁸Orphanet

⁴⁹PathCards

⁵⁰PharmGKB

⁵¹PubMed

⁵²QIAGEN

⁵³R&D Systems

⁵⁴Reactome

⁵⁵SinoBiological

⁵⁶SNOMED-CT

⁵⁷SNOMED-CT via Orphanet

⁵⁸The Human Phenotype Ontology

⁵⁹Thomson Reuters

⁶⁰Tocris Bioscience

⁶¹UMLS

⁶²UMLS via Orphanet

⁶³UniProtKB/Swiss-Prot

⁶⁴Wikipedia

MCID: MLD013 MIFTS: 34	Mild Hemophilia a malady Blood diseases, Rare diseases categories
3 genes, 1 tissue, 46 related diseases, clinical trials Download this MalaCard Expand all tables

Mild Hemophilia a malady