Factor Xi Deficiency malady

Wikipedia: Haemophilia C is a mild form of haemophilia affecting both sexes. However, it predominantly occurs in...⁴⁴ more...

MalaCards: Factor Xi Deficiency, also known as plasma thromboplastin antecedent deficiency, is related to thrombosis and von willebrand's disease. An important gene associated with Factor Xi Deficiency is F11 (coagulation factor XI), and among its related pathways are Intrinsic Pathway and Warfarin Pathway, Pharmacodynamics. The compounds ximelagatran and citrate have been mentioned in the context of this disorder. Affiliated tissues include liver, and related mouse phenotypes are hematopoietic system and immune system.

Aliases & Descriptions:

factor xi deficiency 6 7 30 16 8 32 43 plasma thromboplastin antecedent deficiency 6 30 hereditary factor xi deficiency disease (disorder) 6 factor xi deficiency, congenital 30 congenital factor xi deficiency 6

rosenthal's disease 6 rosenthal syndrome 30 pta deficiency 30 f11 deficiency 30 hemophilia c 6

Disease types for factor vii deficiency family:

factor v deficiency	factor xiii deficiency
factor xii deficiency	factor x deficiency
factor xi deficiency	factor viii deficiency
factor xiiia deficiency	factor xiiib deficiency
factor 2 deficiency

Diseases related to factor xi deficiency by text searches and GeneDecks gene sharing:

(show top 50)    (show all 247)

id	Related Disease	Score	Top Affiliating Genes
1	thrombosis	30.5	F8, F5, F2
2	von willebrand's disease	28.5	VWF, F9, F8, F7, F5, F3
3	factor xii deficiency	28.4	F5, F3, F2
4	bernard-soulier syndrome	28.1	VWF, F9, F8, F2, F11
5	factor x deficiency	26.0	F9, F7, F5, F3, F2
6	deep vein thrombosis	25.2	VWF, F9, F8, F5, F3, F2
7	factor vii deficiency	25.0	F9, F8, F7, F5, F3, F2
8	acute myocardial infarction	25.0	VWF, F8, F7, F5, F3, F2
9	thromboembolism	24.5	VWF, F9, F8, F7, F5, F3
10	myocardial infarction	24.5	VWF, F9, F8, F7, F5, F3
11	stroke, ischemic	13.4	F5, F2
12	blood protein disease	13.4	F5, F2
13	acute fatty liver of pregnancy	13.3	F3, F2
14	prothrombin deficiency	13.3	F5, F2
15	peripheral vertigo	13.3	F3, F2
16	hemoglobin e disease	13.3	F5, F2
17	spinal cord infarction	13.3	F5, F2
18	porencephaly	13.3	F5, F2
19	lymphoplasmacytic lymphoma	13.3	F3, F2
20	sagittal sinus thrombosis	13.3	F5, F3
21	hantavirus pulmonary syndrome	13.3	F3, F2
22	ruptured abdominal aortic aneurysm	13.3	F3, F2
23	acute biphenotypic leukemia	13.3	F3, F2
24	vein disease	13.3	F5, F2
25	intracranial thrombosis	13.3	F5, F2
26	antithrombin iii deficiency	13.3	F5, F2
27	central retinal artery occlusion	13.2	F5, F2
28	cortical blindness	13.2	F3, F2
29	scott syndrome	13.2	F5, F2
30	crimean-congo hemorrhagic fever	13.1	F3, F2
31	bilirubin metabolic disorder	13.1	F9, F2
32	vitamin k-dependent clotting factors	13.1	F9, F5, F2
33	angiodysplasia	13.1	VWF, F3
34	gastroschisis	13.1	F5, F2
35	purpura fulminans	13.1	F5, F3, F2
36	hemophilic arthropathy	13.1	F9, F8
37	chondrodysplasia punctata 1, x-linked	13.1	F8, F2
38	ischemic optic neuropathy	13.1	F5, F2
39	galactosemia	13.0	F5, F3, F2
40	ovarian hyperstimulation syndrome	13.0	F5, F3, F2
41	gaucher's disease	13.0	F9, F5, F2
42	factor v and factor viii	13.0	F8, F5
43	carotid intimal medial thickness	13.0	F7, F5
44	patent foramen ovale	13.0	F5, F2, F12
45	acquired immunodeficiency syndrome	13.0	F9, F3, F2
46	cardiac tamponade	13.0	F9, F8
47	angioedema	13.0	F5, F11, F12
48	hereditary angioedema	12.9	F5, F12
49	chronic myeloproliferative disease	12.9	F7, F5, F2
50	compartment syndrome	12.9	F8, F2

Approved drugs:

Drug clinical trials:

Genetic tests related to factor xi deficiency:

id	Genetic test	Affiliating Genes
1	Factor Xi Deficiency clinical/research	F11

MalaCards organs/tissues related to factor xi deficiency:

²²

MGI Mouse Phenotypes related to factor xi deficiency:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system phenotype	MP:0005397	9.9	F11
2	immune system phenotype	MP:0005387	8.4	F2, F8, F9, VWF, F11
3	cardiovascular system phenotype	MP:0005385	7.1	THBD, F11, F2, F3, F5, F7
4	mortality/aging	MP:0010768	6.4	THBD, F11, F2, F3, F5, F7
5	homeostasis/metabolism phenotype	MP:0005376	6.1	VWF, THBD, F12, F11, F2, F3

Articles related to factor xi deficiency:

(show top 50)    (show all 93)

id	Title	Authors	Year	Affiliating Genes
1	Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France). (22159456)	Gueguen P.... Le Marechal C.	2012	F11
2	A cluster of factor XI-deficient patients due to a new mutation (Ile 436 Lys) in northeastern Italy. (21999818)	Girolami A.... Lombardi A.M.	2012	F11
3	Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency. (22322133)	Tirefort Y.... de Moerloose P.	2012	F11
4	Three dominant-negative mutations in factor XI-deficient patients. (21457405)	Dai L.... Mitchell M.	2011	F11
5	A novel missense mutation Asp506Gly in exon 13 of the F11 gene in an asymptomatic Korean woman with mild factor XI deficiency. (22016685)	Lee J.H.... Kim H.J.	2011	F11
6	Molecular analysis of severe factor XI deficiency in three Italian patients. (21649796)	Bicocchi M.P.... Acquila M.	2011	F11
7	Factor XI deficiency: two novel mutations in asymptom atic Italian patients. (20491955)	Tomaiuolo M.... Grandone E.	2010	F11
8	First diagnosis of factor XI deficiency in a patient with subarachnoid haemorrhage. (19367158)	Vasileiadis I.... Kotanidou A.	2009	F11
9	Factor XI deficiency in Southern Iran: identification of a novel missense mutation. (18758779)	Karimi M.... Peyvandi F.	2009	F11
10	Factor XI Deficiency. (19598070)	Duga S.... Salomon O.	2009	F11
11	Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time polymerase chain reaction to determine their prevalence in healthy and factor XI-deficient Italians. (18387979)	Zadra G.... Duga S.	2008	F11
12	Factor XI deficiency. (18312365)	Gomez K.... Bolton-Maggs P.	2008	F11
13	Severe factor XI deficiency in a Korean woman with a novel missense mutation (Val498Met) and duplication G mutation in exon 13 of the F11 gene. (18832909)	Kwon M.J.... Kim S.H.	2008	F11
14	Successful use of recombinant factor VIIa (NovoSeven) during cardiac surgery in a pediatric patient with congenital factor XI deficiency. (17885783)	Avci Z.... Ozbek N.	2008	F11
15	Induction of an inhibitor antibody to factor XI in a patient with severe inherited factor XI deficiency by Rh immune globulin. (18029554)	Zucker M.... Seligsohn U.	2008	F11
16	Factor XI gene mutations in factor XI deficient patients of the Czech Republic. (18839438)	Castaman G.... Rodeghiero F.	2008	F11
17	Four novel FXI gene mutations in three factor XI- deficient patients. (18388506)	de Raucourt E.... Quelin F.	2008	F11
18	Characterization of seven novel mutations causing factor XI deficiency. (18024374)	Zucker M.... Seligsohn U.	2007	F11
19	Screening for factor XI deficiency amongst pregnant women of Ashkenazi Jewish origin. (17083513)	Kadir R.A.... Economides D.L.	2006	F11
20	Effects of factor XI deficiency on ferric chloride-induced vena cava thrombosis in mice. (16961605)	Wang X.... Seiffert D.A.	2006	F11
21	Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency. (16607084)	QuAclin F.... de Mazancourt P.	2006	F11
22	Inhibitors to Factor XI in patients with severe Factor XI deficiency. (16427373)	Salomon O.... Seligsohn U.	2006	F11
23	Coagulation factor XI: a database of mutations and polymorphisms associated with factor XI deficiency. (15870541)	Dossenbach-Glaninger A.... Hopmeier P.	2005	F11
24	Factor XI deficiency database: an interactive web dat abase of mutations, phenotypes, and structural analysis tools. (16086308)	Saunders R.E.... Perkins S.J.	2005	F11
25	Structural interpretation of 42 mutations causing factor XI deficiency using homology modeling. (15634276)	O'Connell N.M.... Perkins S.J.	2005	F11
26	The inherited coagulation factor XI deficiency caused by intronic mutation IVS J-4delgttg (15946525)	Xie S.... Wang Z.Y.	2005	F11
27	Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients. (15531455)	Zadra G.... Duga S.	2004	F11
28	An Alu-mediated 31.5-kb deletion as the cause of factor XI deficiency in 2 unrelated patients. (15226185)	Mitchell M.... Alhaq A.	2004	F11
29	Severe factor XI deficiency caused by a Gly555 to Glu mutation (factor XI-Glu555): a cross-reactive material positive variant defective in factor IX activation. (15456490)	Zivelin A.... Gailani D.	2004	F9, F11
30	Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation. (14717969)	Quelin F.... Fressinaud E.	2004	F11
31	A common ancestral mutation (C128X) occurring in 11 non-Jewish families from the UK with factor XI deficiency. (15140127)	Bolton-Maggs P.H.... Seligsohn U.	2004	F3, F11
32	Severe factor XI deficiency caused by compound heterozygosity. (15180874)	Dai L.... Alhaq A.	2004	F11
33	Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain. (15026311)	Kravtsov D.V.... Gailani D.	2004	F11
34	New observations on factor XI deficiency. (15479396)	Salomon O.... Seligsohn U.	2004	F11
35	FXI gene mutations in two pedigrees of congenital cl otting factor XI deficiency (15182578)	Wu W.M.... Wang Z.Y.	2004	F11
36	Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene. (11895778)	Zivelin A.... Seligsohn U.	2002	F11
37	A case of chronic myelomonocytic leukaemia and factor XI deficiency with a circulating anticoagulant. (11442650)	Billon S.... Abgrall J.F.	2001	F11
38	A novel mutation that leads to a congenital factor XI deficiency in a Japanese family. (10706758)	Sato E.... Oshimi K.	2000	F11
39	Heterozygous factor XI deficiency associated with three novel mutations. (10606881)	Mitchell M.... Alhaq A.	1999	F11
40	Factor XI deficiency in women. (9883805)	Kadir R.A.... Lee C.A.	1999	F11
41	Identification of a novel mutation in a non-Jewish factor XI deficient kindred. (10027710)	Alhaq A.... Savidge G.	1999	F9, F11
42	Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11. (9401068)	Wistinghausen B.... Karpatkin M.	1997	F11
43	Factor XI deficiency: do patients with hemorrhagic diathesis also have hemostasis defects? (8701241)	Peter M.K.... von Felten A.	1996	F11
44	Activation of factor VII during alimentary lipemia occurs in healthy adults and patients with congenital factor XII or factor XI deficiency, but not in patients with factor IX deficiency. (8639777)	Miller G.J.... Tuddenham E.G.	1996	F9
45	Factor XI deficiency in an Ashkenazi Jewish child, causing severe postoperative hemorrhage. (8749944)	Weinstock D.J.... Schwartz A.D.	1995	F3
46	Identification of two novel mutations in non-Jewish factor XI deficiency. (7669672)	Imanaka Y.... McVey J.H.	1995	F11
47	Postoperative primary adrenal failure from bilateral hemorrhagic adrenal infarction associated with coagulation factor XI deficiency. (8445157)	Wong R.... Street A.M.	1993	F11
48	Successful childbirth by a patient with congenital factor XI deficiency and an acquired inhibitor. (8338772)	Ginsberg S.S.... Hanson T.	1993	F11
49	Factor XI deficiency acquired by liver transplantation. (1952475)	Clarkson K.... Bell W.	1991	F11
50	Factor XI deficiency in Ashkenazi Jews in Israel. (2052060)	Asakai R.... Seligsohn U.	1991	F11

Genes related to factor xi deficiency according to GeneCards:

(show all 12)

id	Symbol	Description	Score	GeneCards Section Context
1	F11	coagulation factor XI	11.1	Publications
2	F9	coagulation factor IX	11.0	Publications
3	F5	coagulation factor V (proaccelerin, labile factor)	11.0	Publications
4	F3	coagulation factor III (thromboplastin, tissue factor)	11.0	Publications
5	F2	coagulation factor II (thrombin)	11.0	Publications
6	CDCA3	cell division cycle associated 3	11.0	Disorders
7	F12	coagulation factor XII (Hageman factor)	11.0	Publications
8	ITSN2	intersectin 2	11.0
9	F7	coagulation factor VII (serum prothrombin conversion accelerator)	11.0
10	F8	coagulation factor VIII, procoagulant component	11.0
11	THBD	thrombomodulin	11.0	Publications
12	VWF	von Willebrand factor	11.0	Publications

Pathways related to factor xi deficiency according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Intrinsic Pathway38	9.8	F11, F12
2	Warfarin Pathway, Pharmacodynamics34	9.0	F9, F7, F2
3	Extrinsic Prothrombin Activation Pathway36	7.8	THBD, F12, F2, F3, F5, F7
4	Intrinsic Prothrombin Activation Pathway36	7.3	THBD, F12, F11, F2, F5, F8
5	Blood Coagulation Cascade36	6.7	THBD, F9, F8, F7, F5, F3
6	Blood Coagulation Signaling Pathways37	6.2	F2, F11, F12, THBD, F3, F5
7	Complement and coagulation cascades20	6.1	VWF, F9, F8, F7, F5, F3

Compounds related to factor xi deficiency according to GeneDecks:

(show top 50)    (show all 137)

id	Compound	Score	Top Affiliating Genes
1	ximelagatran32 9 9	12.5	F2
2	citrate32	10.0	F8, F9
3	inogatran32	9.8	F5, F3, F2
4	ecarin32	9.7	F5, F3, F2
5	spectrozyme32	9.7	F5, F2, F3
6	acenocoumarol32 34 9 9	12.6	F9, F3, F5, F2
7	danaparoid32	9.6	F2, F5, F3
8	coumarins32	9.5	F2, F3, F5, F9
9	coumarin32 18	10.4	F9, F5, F3, F2
10	tributylphosphate32	9.3	F8, VWF, F9
11	levonorgestrel32 9 9	11.3	F5, F3, F7, F2
12	heparin sodium32	9.2	F3, F2, THBD
13	organon32	9.2	F2, F3, F9
14	hirugen32	9.2	F5, F2, THBD
15	rfviii32	9.1	F5, F9, VWF, F8
16	Coagulation Factor IX9 9	10.1	F2, F7, F8, F11
17	heparinoids32	9.1	F2, F3, F5, THBD
18	bivalirudin32 9 9	11.0	F2, THBD, F5, F3
19	argatroban32 9 9	11.0	F2, F5, THBD, F3
20	hydroxyethyl starch32	9.0	VWF, F2, F3, F8
21	phosphatidylethanolamine32 9 9	10.9	F9, F8, F2, F5
22	ancrod32	8.9	THBD, F2, F5
23	fondaparinux32	8.8	THBD, F5, F9, F2, F3
24	tranexamic acid32 9 9	10.8	VWF, F8, F3, F2, F9
25	Drotrecogin alfa9 9	9.7	F8, THBD, F2, F5
26	acetaminophen32 34 9 18 9	12.7	F8, F9, VWF, F2, F5
27	kaolin32	8.6	F12, F2, F3, F5, F8, F9
28	phosphatidylserine32 9 9	10.6	VWF, F5, THBD, F2, F9
29	cacl232	8.5	THBD, F5, F8, F9, F3
30	cardiolipin32 9 9	10.4	F2, F8, THBD, F3, F5
31	gamma-carboxyglutamic acid32	8.3	F2, F3, F5, F7, F9, THBD
32	simvastatin32 34 42 9 18 9	13.3	F5, VWF, F3, THBD, F2
33	ristocetin32	8.3	F9, F8, F5, F3, F2, F11
34	endotoxin32	8.2	F9, F5, F8, THBD, F3, F11
35	heparin32 9 18 9	11.1	F8, F12, F11, F2, F3, F9
36	dermatan sulfate32	8.0	F3, F5, F9, THBD, VWF, F11
37	aprotinin32 9 9	10.0	F9, THBD, F11, F3, VWF, F5
38	cyclophosphamide32 34 9 9	10.9	THBD, VWF, F9, F8, F5, F3
39	prostacyclin32	7.9	VWF, F8, THBD, F3, F5
40	aspirin32 34 18	9.5	F3, F5, F2, F8, VWF, F12
41	hirudin32	7.4	THBD, F11, F2, F3, F5, F9
42	desmopressin32 42 9 9	10.4	VWF, F5, F3, F2, F11, THBD
43	homocysteine32 18	8.4	F8, F2, VWF, F9, F3, F5
44	phospholipid32	7.4	THBD, F11, F2, F3, F5, VWF
45	warfarin32 34 9 18 9	11.2	F9, THBD, F8, F7, F5, VWF
46	kininogen32	7.1	VWF, F9, F7, F5, F3, F2
47	creatinine32	7.1	F7, F9, F3, F2, F8, VWF
48	aspartate32	7.1	F5, F8, VWF, F7, F3, F2
49	fibrinogen32	6.5	F8, VWF, F9, THBD, F12, F11
50	serine32	6.4	F12, VWF, F11, F2, F8, F7

Cellular components related to factor xi deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	endoplasmic reticulum lumen	GO:005788	9.3	F9, F7, F2
2	platelet alpha granule lumen	GO:031093	9.0	F5, F8, VWF
3	Golgi lumen	GO:005796	9.0	F2, F7, F9
4	extracellular region	GO:005576	7.3	F12, F11, F2, F5, F7, F8
5	extracellular space	GO:005615	7.0	F8, THBD, F12, F11, F2, F3
6	plasma membrane	GO:005886	6.5	THBD, F12, F11, F2, F3, F5

Biological processes related to factor xi deficiency according to GeneDecks:

(show all 14)

id	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of fibrinolysis	GO:051919	9.9	F11, F12
2	positive regulation of platelet-derived growth factor receptor signaling pathway	GO:010641	9.8	F7, F3
3	fibrinolysis	GO:042730	9.7	F2, F12
4	positive regulation of positive chemotaxis	GO:050927	9.7	F7, F3
5	blood coagulation, extrinsic pathway	GO:007598	9.6	F3, F7, F9
6	peptidyl-glutamic acid carboxylation	GO:017187	9.5	F2, F7, F9
7	positive regulation of blood coagulation	GO:030194	9.4	F7, F2, F12
8	negative regulation of platelet activation	GO:010544	9.2	F2, THBD
9	platelet degranulation	GO:002576	9.0	F5, F8, VWF
10	negative regulation of fibrinolysis	GO:051918	9.0	F2, THBD
11	proteolysis	GO:006508	8.8	F12, F11, F2, F7, F9
12	platelet activation	GO:030168	8.8	F2, F5, F8, VWF
13	blood coagulation, intrinsic pathway	GO:007597	8.3	VWF, F12, F11, F2, F8, F9
14	blood coagulation	GO:007596	6.3	THBD, F12, F11, F2, F3, F5

Molecular functions related to factor xi deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	serine-type endopeptidase activity	GO:004252	8.3	F9, F7, F2, F11, F12
2	calcium ion binding	GO:005509	8.0	F2, F7, F9, ITSN2, THBD