Factor Xii Deficiency malady

NIH Rare Diseases: Factor XII deficiency is an inherited disorder that affects a protein (factor XII) involved in blood clotting. While a lack of factor XII does not cause affected individuals to bleed abnormally, the blood takes longer than normal to clot in a test tube. The condition is usually discovered when prolonged clotting is noticed in the process of running other laboratory tests. Factor XII deficiency is caused by mutations in the F12 gene. It is inherited in an autosomal recessive manner. ³⁰

MalaCards: Factor Xii Deficiency, also known as hageman factor deficiency, is related to thrombosis and peritonitis. An important gene associated with Factor Xii Deficiency is F12 (coagulation factor XII (Hageman factor)), and among its related pathways are Intrinsic Pathway and Common Pathway. The compounds citrate and ximelagatran have been mentioned in the context of this disorder. Affiliated tissues include liver, and related mouse phenotypes are hematopoietic system and immune system.

Wikipedia: Coagulation factor XII also known as Hageman factor is a plasma protein. It is the zymogen form of...⁴⁴ more...

OMIM: 234000

Aliases & Descriptions:

factor xii deficiency 6 7 30 8 33 32 43 hageman factor deficiency 6 30 16 factor xiii deficiency 8 32 43 factor xii deficiency disease (disorder) 6 16 factor 12 deficiency 30 16

f12 deficiency 30 16 haf deficiency 30 16 coagulation factor 12 deficiency 30 deficiency, hageman 6 malnutrition 43

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 xii deficiency by text searches and GeneDecks gene sharing:

(show top 50)    (show all 596)

id	Related Disease	Score	Top Affiliating Genes
1	thrombosis	31.0	F8, F5, F2
2	peritonitis	28.9	VWF, SERPINC1, F3, F2, F12, PLAU
3	von willebrand's disease	27.4	VWF, F9, F8, F5, F3, F2
4	venous thrombosis	26.9	VWF, SERPINC1, APOH, F9, F8, F5
5	factor x deficiency	26.4	F9, F5, F3, F2
6	uremia	26.3	VWF, SERPINC1, APOH, F8, F2
7	vitamin k deficiency hemorrhagic disease	25.7	F9, F3, F2
8	chondrodysplasia punctata 1, x-linked	25.5	F8, F2
9	hemophilia	25.5	VWF, SERPINC1, APOH, F9, F8, F5
10	fabry disease	25.4	VWF, SERPINC1, APOH, F5
11	factor v deficiency	25.2	F9, F8, F5, F3, F2
12	osteoporosis	25.2	SERPINC1, F5, F3, F2, PLAU
13	factor vii deficiency	25.0	SERPINC1, F9, F8, F5, F3, F2
14	diabetes mellitus	24.8	VWF, SERPINC1, APOH, F8, F5, F3
15	liver cirrhosis	24.7	SERPINC1, F9, F3, F2, KLKB1, KNG1
16	sepsis	24.7	SERPINC1, F9, F5, F3, F2
17	cerebritis	24.6	VWF, SERPINC1, APOH, F8, F5, F3
18	insulin resistance	24.6	VWF, APOH, F9, F8, F5, PLAU
19	chronic obstructive pulmonary disease	24.5	VWF, APOH, F3, F2, PLAU, KNG1
20	atherosclerosis	24.3	VWF, SERPINC1, APOH, F9, F8, F5
21	hyperthyroidism	24.3	VWF, APOH, F9, F5, F3, F2
22	pancreatitis	24.2	VWF, SERPINC1, APOH, F5, F3, F2
23	factor xi deficiency	23.9	VWF, F9, F8, F5, F3, F2
24	inflammatory bowel disease	23.8	VWF, SERPINC1, APOH, F5, F3, F2
25	glomerulonephritis	23.8	VWF, SERPINC1, F9, F5, F3, PLAU
26	immunodeficiency	23.8	VWF, SERPINC1, APOH, F9, F8, F3
27	hypothyroidism	23.7	VWF, SERPINC1, F9, F8, F3, F2
28	anemia	23.6	VWF, SERPINC1, APOH, F9, F8, F5
29	hemophilia b	23.6	VWF, F9, F8, F3, F2, F11
30	myocardial infarction	23.5	VWF, SERPINC1, APOH, F9, F8, F5
31	hypoxia	23.4	VWF, F5, F3, F2, F12, PLAU
32	crohn's disease	23.4	SERPINC1, APOH, F9, F5, F2, KNG1
33	hepatitis	23.3	VWF, SERPINC1, APOH, F9, F8, F5
34	hepatitis c	23.3	SERPINC1, APOH, F9, F8, F5, F3
35	hyperhomocysteinemia	23.0	VWF, SERPINC1, APOH, F9, F8, F5
36	pulmonary disease	22.9	VWF, SERPINC1, APOH, F5, F3, F2
37	leukemia	22.9	VWF, SERPINC1, APOH, F9, F8, F5
38	rheumatoid arthritis	22.8	VWF, SERPINC1, APOH, F5, F3, F2
39	thromboembolism	22.6	VWF, SERPINC1, APOH, F9, F8, F5
40	cystic fibrosis	22.6	VWF, SERPINC1, F9, F8, F5, F3
41	esophagitis	22.6	SERPINC1, F5, F3, F2, PLAU, KNG1
42	hepatitis b	22.5	SERPINC1, APOH, F9, F8, F5, F3
43	carcinoma	22.2	VWF, SERPINC1, APOH, F9, F8, F5
44	fibrosis	22.0	VWF, SERPINC1, F9, F8, F5, F3
45	obesity	22.0	VWF, SERPINC1, F9, F8, F5, F3
46	hepatocellular carcinoma	21.8	VWF, SERPINC1, F9, F8, F5, F3
47	nephropathy	21.6	VWF, APOH, F8, F5, F3, F12
48	arthritis	21.6	VWF, SERPINC1, APOH, F5, F3, F2
49	cholesterol	20.8	VWF, SERPINC1, APOH, F9, F8, F5
50	mondor disease	13.4	APOH, F5

Clinical features from OMIM: 234000

Approved drugs:

Drug clinical trials:

Genetic tests related to factor xii deficiency:

id	Genetic test	Affiliating Genes
1	Factor Xii Deficiency clinical/research	F12

MalaCards organs/tissues related to factor xii deficiency:

²²

MGI Mouse Phenotypes related to factor xii 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	7.9	F11, F2, F8, F9, VWF
3	nervous system phenotype	MP:0003631	7.0	F12, F11, F2, F3, F5, SERPINC1
4	cardiovascular system phenotype	MP:0005385	6.6	KLKB1, PLAU, F11, F2, F3, F5
5	mortality/aging	MP:0010768	6.2	PLAU, F11, F2, F3, F5, F8
6	homeostasis/metabolism phenotype	MP:0005376	5.1	VWF, KNG1, KLKB1, PLAU, F12, F11

Articles related to factor xii deficiency:

(show all 26)

id	Title	Authors	Year	Affiliating Genes
1	Factor XII Ofunato: Lys346Asn mutation associated wit h blood coagulation factor XII deficiency causes impaired secretion through a p roteasome-mediated degradation. (20022356)	Suzuki K.... Ishida Y.	2010	F12
2	Molecular genetic analysis of Korean patients with co agulation factor XII deficiency. (20386432)	Kwon M.J.... Kim S.H.	2010	F12, F3
3	Novel deleterious mutation in the F12 gene in a Korea n family with severe coagulation factor XII deficiency. (20729721)	Kim H.J.... Kim S.H.	2010	F12
4	Deep venous thrombosis and previous myocardial infarction in mild factor XII deficiency: a risk factor for both venous and arterial thrombosis. (18392695)	Lessiani G.... DavA- G.	2009	F3
5	Rosai-Dorfman disease with factor XII deficiency. (19326165)	Kasapoglu Gunal E.... Aral O.	2009	F3
6	A novel mutation in a patient with congenital coagulation factor XII deficiency. (18710647)	Feng Y.... Zhou X.H.	2008	F12
7	Genetic study in patients with factor XII deficiency: a report of three new mutations exon 13 (Q501STOP), exon 14 (P547L) and -13C>T promoter region in three compound heterozygotes. (18832903)	Lombardi A.M.... Girolami A.	2008	F12
8	Factor XII deficiency acquired by orthotopic liver tr ansplantation: case report and review of the literature. (16827880)	Osborn N.K.... Narayanan Menon K.V.	2006	F3
9	Factor XII Shizuoka, a novel mutation (Ala392Thr) identified and characterized in a patient with congenital coagulation factor XII deficiency. (15617741)	Oguchi S.... Watanabe K.	2005	F12
10	Comparable levels of activity and antigen in factor XII deficiency: a study of 21 homozygotes and 58 heterozygotes. (16015420)	Girolami A.... Girolami B.	2005	F12
11	Genetic analyses and expression studies identified a novel mutation (W486C) as a molecular basis of congenital coagulation factor XII deficiency. (15205584)	Ishii K.... Watanabe K.	2004	F12
12	Factor XII deficiency is strongly associated with primary recurrent abortions. (12969703)	Pauer H.U.... Hinney B.	2003	APOH
13	Molecular characterization of coagulation factor XII deficiency in a Japanese family. (12876626)	Wada H.... Nobori T.	2003	F12
14	Combined severe factor XII deficiency and homozygous factor V Leiden mutation in a patient with venous thrombosis. (12297136)	Miljic P.... Djordjevic V.	2002	F5
15	Is factor XII deficiency related to recurrent miscarriage? (11372764)	Matsuura T.... Terao T.	2001	F3
16	Identification and characterization of two novel mutations (Q421K and R123P) in congenital factor XII deficiency. (11776307)	Kanaji T.... Okamura T.	2001	F12
17	Symptomatic combined homozygous factor XII deficiency and heterozygous factor V Leiden. luscaber@tin.it. (10728027)	Girolami A.... Zerbinati P.	2000	F5
18	A patient with isolated prolongation of aPTT without hemorrhagic diathesis anamnesis: severe, hereditary factor XII deficiency (10517121)	Zeerleder S.... LAommle B.	1999	F9, F2, F8
19	Factor XII Tenri, a novel cross-reacting material negative factor XII deficiency, occurs through a proteasome-mediated degradation. (10361128)	Kondo S.... Koide T.	1999	F12
20	Thrombus formation on transcatheter ASD occluder device in a patient with coagulation factor XII deficiency. (9473199)	Gastmann O.... Figulla H.R.	1998	F12, F3
21	Thrombosis in patients with heterozygous and homozygo us factor XII deficiency is not explained by the associated presence of factor V Leiden. (8865545)	Castaman G.... Rodeghiero F.	1996	F5
22	A novel 5'-upstream mutation in the factor XII gene is associated with a TaqI restriction site in an Alu repeat in factor XII-deficient patients. (8641707)	Hofferbert S.... Schloesser M.	1996	F12
23	The prevalence of factor XII deficiency in 103 orally anticoagulated outpatients suffering from recurrent venous and/or arterial thr omboembolism. (1440493)	Halbmayer W.M.... Fischer M.	1992	SERPINC1
24	A female hemophilia A combined with hereditary coagulation factor XII deficiency: a case report. (1550105)	Matsushita T.... Saito H.	1992	F12, F3
25	Factor XII deficiency and pregnancy. (1870803)	Lao T.T.... Cohen H.	1991	F3, APOH
26	Reduction of contact activation related fibrinolytic activity in factor XII deficient patients. Further evidence for the role of the contact system in fibrinolysis in vivo. (1833421)	Levi M.... Ten Cate J.W.	1991	PLAU

Genes related to factor xii deficiency according to GeneCards:

(show all 13)

id	Symbol	Description	Score	GeneCards Section Context
1	F12	coagulation factor XII (Hageman factor)	11.0	Publications
2	F3	coagulation factor III (thromboplastin, tissue factor)	11.0	Publications
3	APOH	apolipoprotein H (beta-2-glycoprotein I)	11.0	Publications
4	F5	coagulation factor V (proaccelerin, labile factor)	11.0	Publications
5	F9	coagulation factor IX	11.0	Publications
6	SERPINC1	serpin peptidase inhibitor, clade C (antithrombin), member 1	11.0	Publications
7	VWF	von Willebrand factor	11.0
8	KLKB1	kallikrein B, plasma (Fletcher factor) 1	11.0
9	F11	coagulation factor XI	11.0
10	F8	coagulation factor VIII, procoagulant component	11.0	Publications
11	F2	coagulation factor II (thrombin)	11.0	Publications
12	PLAU	plasminogen activator, urokinase	11.0	Publications
13	KNG1	kininogen 1	11.0

Pathways related to factor xii deficiency according to GeneDecks:

(show all 11)

id	Pathway	Score	Top Affiliating Genes
1	Intrinsic Pathway38	9.8	F12, F11
2	Common Pathway38	9.8	F5, SERPINC1
3	Warfarin Pathway, Pharmacodynamics34	9.5	F9, F2
4	MSP-RON Signaling36	9.5	F11, F12, KLKB1
5	Cell adhesion_Plasmin signaling41	8.9	KLKB1, PLAU, F12
6	Extrinsic Prothrombin Activation Pathway36	8.8	F12, F2, F3, F5, SERPINC1
7	Cell adhesion Plasmin signaling10	8.7	KLKB1, PLAU, F12
8	Intrinsic Prothrombin Activation Pathway36	7.5	KLKB1, F12, F11, F2, F5, F8
9	Blood Coagulation Cascade36	7.2	F2, F3, F5, F8, F9, SERPINC1
10	Blood Coagulation Signaling Pathways37	5.5	KNG1, KLKB1, PLAU, F12, F11, F2
11	Complement and coagulation cascades20	5.4	F11, F2, F3, F5, F8, F9

Compounds related to factor xii deficiency according to GeneDecks:

(show top 50)    (show all 157)

id	Compound	Score	Top Affiliating Genes
1	citrate32	10.0	F8, F9
2	ximelagatran32 9 9	11.8	SERPINC1, F2
3	inogatran32	9.3	F3, SERPINC1, F5, F2
4	ecarin32	9.3	SERPINC1, F5, F2, F3
5	rfviii32	9.3	F8, VWF, F9, F5
6	spectrozyme32	9.3	SERPINC1, F2, F3, F5
7	danaparoid32	9.3	SERPINC1, F5, F3, F2
8	tributylphosphate32	9.3	F9, VWF, F8
9	heparinoids32	9.2	F3, F5, F2, SERPINC1
10	organon32	9.2	F2, F9, SERPINC1, F3
11	acenocoumarol32 34 9 9	12.2	F2, F3, F5, F9
12	phosphatidylserine32 9 9	11.2	F5, VWF, F2, F9
13	bivalirudin32 9 9	11.2	F5, F2, SERPINC1, F3
14	phenprocoumon32 34 9 9	12.2	F3, F9, SERPINC1, F2
15	argatroban32 9 9	11.2	F3, F2, F5, SERPINC1
16	protamine sulfate32	9.1	F5, SERPINC1, F3, F2
17	coumarins32	9.1	F3, F9, F2, F5, APOH
18	cacl232	9.1	F8, F9, F3, F5
19	ppack32	9.0	F2, F3, SERPINC1, VWF
20	fondaparinux32	9.0	F3, F5, F9, SERPINC1, F2
21	tirofiban32 9 9	10.9	F2, F3, VWF, SERPINC1
22	coumarin32 18	9.9	F9, F2, F3, SERPINC1, F5
23	cardiolipin32 9 9	10.8	F3, APOH, F8, F2, F5
24	hydroxyethyl starch32	8.7	VWF, SERPINC1, F8, F3, F2
25	phosphatidylethanolamine32 9 9	10.7	APOH, F9, F5, F2, F8
26	hirudin32	8.7	PLAU, F11, F5, F9, SERPINC1
27	cyclophosphamide32 34 9 9	11.6	APOH, F9, VWF, F3, F8, F5
28	benzamidine32 9 9	10.6	F5, PLAU, SERPINC1, F9
29	epsilon aminocaproic acid32	8.5	SERPINC1, F9, F3, F2, PLAU
30	kaolin32	8.3	F2, F3, F5, F8, F9, APOH
31	endotoxin32	8.3	F11, APOH, F3, F5, F8, F9
32	acetaminophen32 34 9 18 9	12.0	F2, F8, F9, F5, VWF
33	pge132	7.9	F5, APOH, F2, VWF, KNG1, PLAU
34	warfarin32 34 9 18 9	11.9	F2, F3, F5, F8, F9, APOH
35	ristocetin32	7.7	F9, SERPINC1, VWF, F8, F5, F3
36	phospholipid32	7.7	VWF, APOH, F9, F8, F5, F3
37	tranexamic acid32 9 9	9.6	PLAU, F2, F3, F8, F9, SERPINC1
38	dextran sulfate32	7.6	F9, APOH, SERPINC1, F5, F3, F11
39	prostacyclin32	7.5	F3, PLAU, F5, F8, APOH, SERPINC1
40	homocysteine32 18	8.4	SERPINC1, F2, F3, F5, F8, F9
41	dermatan sulfate32	7.4	PLAU, F11, F2, F3, F5, F9
42	creatinine32	7.0	SERPINC1, F2, F9, PLAU, APOH, F8
43	desmopressin32 42 9 9	9.9	F5, F8, F9, SERPINC1, VWF, F3
44	estrogen32	6.7	F12, PLAU, VWF, F2, F5, F8
45	aspirin32 34 18	8.6	KNG1, PLAU, F12, F2, F3, F5
46	aprotinin32 9 9	8.5	VWF, SERPINC1, F9, F5, KNG1, KLKB1
47	heparin32 9 18 9	9.3	F12, PLAU, KLKB1, KNG1, F11, F2
48	kininogen32	5.9	F2, F3, F5, F9, APOH, SERPINC1
49	fibrinogen32	5.9	F8, SERPINC1, APOH, F5, F3, F2
50	serine32	5.7	PLAU, VWF, SERPINC1, F9, F3, F5

Cellular components related to factor xii deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	platelet alpha granule lumen	GO:031093	8.5	KNG1, F5, F8, VWF
2	extracellular space	GO:005615	5.7	SERPINC1, KNG1, KLKB1, PLAU, F12, F11
3	plasma membrane	GO:005886	5.6	KLKB1, PLAU, F12, F11, F2, F3
4	extracellular region	GO:005576	5.4	F12, PLAU, KLKB1, KNG1, F11, F2

Biological processes related to factor xii deficiency according to GeneDecks:

(show all 15)

id	Name	GO ID	Score	Top Affiliating Genes
1	Factor XII activation	GO:002542	9.9	F12, KLKB1
2	blood coagulation, extrinsic pathway	GO:007598	9.9	F3, F9
3	zymogen activation	GO:031638	9.9	KLKB1, F12
4	negative regulation of blood coagulation	GO:030195	9.7	APOH, KNG1
5	positive regulation of fibrinolysis	GO:051919	9.6	F11, F12, KLKB1
6	plasminogen activation	GO:031639	9.6	KLKB1, F11, APOH
7	positive regulation of blood coagulation	GO:030194	9.5	APOH, F2, F12
8	negative regulation of fibrinolysis	GO:051918	9.5	APOH, F2
9	peptidyl-glutamic acid carboxylation	GO:017187	9.2	F9, F2
10	platelet degranulation	GO:002576	8.9	KNG1, F5, F8, VWF
11	fibrinolysis	GO:042730	8.6	KLKB1, PLAU, F12, F2
12	platelet activation	GO:030168	8.3	KNG1, F2, F5, F8, VWF
13	proteolysis	GO:006508	7.8	KLKB1, PLAU, F12, F11, F2, F9
14	blood coagulation, intrinsic pathway	GO:007597	7.0	VWF, APOH, F9, F8, F2, F11
15	blood coagulation	GO:007596	5.5	VWF, KNG1, KLKB1, SERPINC1, F9, F8

Molecular functions related to factor xii deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	protease binding	GO:002020	9.5	VWF, SERPINC1, F3
2	heparin binding	GO:008201	8.8	KNG1, F11, APOH, SERPINC1
3	serine-type endopeptidase activity	GO:004252	7.6	F9, F2, F11, F12, PLAU, KLKB1
4	protein binding	GO:005515	5.5	KLKB1, PLAU, F12, F11, F2, F3