MCID: FCT004
MIFTS: 58

Factor Xii Deficiency malady

Blood category

Summaries for Factor Xii Deficiency

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

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NIH Rare Diseases:43 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.  last updated: 6/24/2011

MalaCards: Factor Xii Deficiency, also known as factor xii deficiency disease, is related to factor x deficiency and factor xi deficiency. An important gene associated with Factor Xii Deficiency is F12 (coagulation factor XII (Hageman factor)), and among its related pathways are MSP-RON Signaling and Cell adhesion Plasmin signaling. The compounds coumarins and acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include kidney, spleen and breast, and related mouse phenotypes are liver/biliary system and cardiovascular system.

Wikipedia:64 Coagulation factor XII, also known as Hageman factor, is a plasma protein. It is the zymogen form of... more...

Description from OMIM:47 234000

Aliases & Classifications for Factor Xii Deficiency

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 47OMIM, 10DISEASES, 45Novoseek, 61UMLS, 20GeneTests, 22GTR, 49Orphanet, 57SNOMED-CT, 40NCIt, 35MeSH, 26ICD10 via Orphanet
See all sources

Classifications:

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


Aliases & Descriptions:

factor xii deficiency 8 9 43 47 10 45 61
factor xii deficiency disease 8 20 22
factor xiii deficiency 10 45 61
hageman factor deficiency 8 43
congenital hageman factor deficiency 49
coagulation factor 12 deficiency 43
congenital factor xii deficiency 49
factor 12 deficiency 43
deficiency, hageman 8
f12 deficiency 43
haf deficiency 43


External Ids:

Disease Ontology8 DOID:2231
OMIM47 234000
NCIt40 C26770
SNOMED-CT57 46981006
MeSH35 D005175
ICD10 via Orphanet26 D68.2

Related Diseases for Factor Xii Deficiency

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Factor Xii Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 175)
idRelated DiseaseScoreTop Affiliating Genes
1factor x deficiency31.9F9, F5, F3, F2
2factor xi deficiency31.8F3, F2, F12, F11, F9, F8
3factor v deficiency30.9F2, F3, F5, F8
4venous thrombosis30.5F9, APOH, F8, F5, F11, F12
5arthritis30.4KNG1
6thromboembolism30.3SERPINC1, F2, F9, APOH, F8, F5
7hemolytic-uremic syndrome30.2VWF
8central retinal vein occlusion30.2APOH, F5
9thrombophlebitis30.2APOH, F8
10acute myocardial infarction30.2F3, VWF, SERPINC1
11coronary thrombosis30.2SERPINC1, VWF, F3
12arthropathy30.2F9, F8
13factor viii deficiency30.2F9, F8, F5, F3
14bernard-soulier syndrome30.2F9, F8, VWF, F2
15systemic lupus erythematosus30.1F2, VWF, F3, F8, APOH
16factor vii deficiency30.1F9, F8, F5, F3, F2, SERPINC1
17pregnancy loss30.1APOH, F8, F5, F3, F2, SERPINC1
18antiphospholipid syndrome30.1APOH, F8, F5, F3, VWF, F2
19thrombophilia30.1F9, APOH, F8, F5, F11, F12
20factor xiii deficiency11.3
21factor xiiia deficiency10.5
22factor xiii subunit a deficiency10.5
23n syndrome10.4
24factor xiiib deficiency10.4
25gout10.3
26factor xiii subunit b deficiency10.3
27chediak-higashi syndrome10.1
28lemierre's syndrome10.1
29henoch-schoenlein purpura10.1
30pharyngitis10.1
31hereditary spastic paraplegia10.1
32polycystic kidney disease10.1
33b cell deficiency10.1
34hemophilia10.1
35atypical hemolytic-uremic syndrome10.1
36cardiac rupture10.1
37chronic myelomonocytic leukemia10.1
38cluster headache10.1
39congenital mitral stenosis10.1
40intrinsic factor deficiency10.1
41cryofibrinogenemia10.1
42factor 2 deficiency10.1
43rosai-dorfman disease10.1
44headache10.1
45factor xi deficiency, autosomal recessive10.1
46venous thromboembolism10.1
47hemorrhage, intracerebral10.1
48retinal artery occlusion10.0APOH
49ovarian hyperstimulation syndrome10.0F5
50amyloidosis10.0F9

Graphical network of the top 20 diseases related to Factor Xii Deficiency:



Diseases related to factor xii deficiency

Clinical Features for Factor Xii Deficiency

Sources:
47OMIM
See all sources

Clinical features from OMIM:

234000

Clinical synopsis from OMIM:

234000

Drugs & Therapeutics for Factor Xii Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Factor Xii Deficiency

Drug clinical trials:

Search ClinicalTrials for Factor Xii Deficiency

Search NIH Clinical Center for Factor Xii Deficiency

Search CenterWatch for Factor Xii Deficiency

Genetic Tests for Factor Xii Deficiency

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Factor Xii Deficiency:

id Genetic test Affiliating Genes
1 Factor Xii Deficiency20 F12
2 Factor Xii Deficiency Disease22

Anatomical Context for Factor Xii Deficiency

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Factor Xii Deficiency:

33
Kidney, Spleen, Breast, Placenta, B cells

Animal Models for Factor Xii Deficiency or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Factor Xii Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5SERPINC1, PLAU, F11, F5, F9
2MP:00053857.8KLKB1, F9, F11, F3, F2, PLAU
3MP:00036316.8F5, F11, F12, F3, VWF, F2
4MP:00053976.8F9, F8, F11, F3, VWF, F2
5MP:00053876.7F9, F8, F11, F3, VWF, F2
6MP:00107686.2F9, APOH, F8, F5, F11, F3
7MP:00053765.1SERPINC1, KLKB1, F9, APOH, F8, F5

Publications for Factor Xii Deficiency

Sources:
51PubMed
See all sources

Articles related to Factor Xii Deficiency:

(show top 50)    (show all 197)
idTitleAuthorsYear
1
Factor XIII deficiency management: a review of the literature. (24401950)
2014
2
Biology of Factor XIII and clinical manifestations of Factor XIII deficiency. (22928875)
2013
3
Recurrent Spontaneous Splenic Rupture in a Patient With Congenital Factor XIII Deficiency. (24351968)
2013
4
A child with acquired factor XIII deficiency: case report and literature review. (23607876)
2013
5
Post-infectious acute glomerulonephritis and transient coagulation factor XIII deficiency associated with acute parvovirus B19 infection in a young woman--reply. (23683879)
2013
6
Hyperfibrinolysis and acquired factor XIII deficiency in newly diagnosed pediatric malignancies. (23753026)
2013
7
Factor XIII deficiency: an update. (23929307)
2013
8
Intracranial hemorrhage pattern in the patients with factor XIII deficiency. (24149912)
2013
9
Spontaneous acute cerebral hematoma in a child with factor XIII deficiency. (23697960)
2013
10
Hemorrhagic-acquired factor XIII deficiency associated with tocilizumab for treatment of rheumatoid arthritis. (23070535)
2012
11
Acute Abdomen in a Young Girl with Factor XIII Deficiency Perianesthetic Issues. (23543997)
2012
12
Corifacta8c/FibrogamminAr P in the prophylactic treatment of hereditary factor XIII deficiency: results of a prospective, multicenter, open-label study. (23439001)
2012
13
Induction of hemodialysis therapy in a case with factor XIII deficiency. (21710188)
2011
14
Factor XIII deficiency as a potential cause of supratentorial haemorrhage after posterior fossa surgery. (19557304)
2010
15
Spontaneous regression of the inhibitor against the coagulation factor XIII A subunit in acquired factor XIII deficiency. (20941461)
2010
16
Spinal anaesthesia and caesarean section in a patient with hypofibrinogenaemia and factor XIII deficiency. (20345422)
2010
17
Subgaleal hematoma presenting as a manifestation of Factor XIII deficiency. (19255750)
2009
18
Factor XIII deficiency: a differential diagnosis to be considered in suspected nonaccidental injury presenting with intracranial hemorrhage. (18057145)
2008
19
Factor XIII deficiency. (19141159)
2008
20
Phenotype-genotype correlation in eight Polish patients with inherited Factor XIII deficiency: identification of three novel mutations. (17880458)
2007
21
Congenital factor XIII deficiency in Switzerland: from the worldwide first case in 1960 to its molecular characterisation in 2005. (17594539)
2007
22
A novel compound heterozygous mutation in the F13A gene causing hereditary factor XIII deficiency in a Chinese family. (16409483)
2006
23
Phenotype-genotype characterization of 10 families with severe a subunit factor XIII deficiency. (14695539)
2004
24
Seven novel mutations in the factor XIII A-subunit gene causing hereditary factor XIII deficiency in 10 unrelated families. (15456491)
2004
25
Factor XIII deficiency associated with valproate treatment. (14738427)
2004
26
Factor XIII deficiency mistaken for battered child syndrome: case of "correct" test ordering negated by a commonly accepted qualitative test with limited negative predictive value. (12447966)
2002
27
Bleeding risk and reproductive capacity among patients with factor XIII deficiency: a case presentation and review of the literature. (10674253)
2000
28
Factor XIII deficiency and postoperative hemorrhage after neurosurgical procedures. (11118574)
2000
29
Factor XIII deficiency due to a Leu660Pro mutation in the factor XIII subunit-a gene in three unrelated Palestinian Arab families. (9241732)
1997
30
Gene defects in congenital factor XIII deficiency. (8989822)
1996
31
Congenital factor XIII deficiency. (8005932)
1993
32
Factor XIII ABristol 1: detection of a nonsense mutation (Arg171-->stop codon) in factor XIII A subunit deficiency. (7918041)
1993
33
Hereditary factor XIII deficiency. (8253495)
1993
34
Factor XIII-deficiency in the blood of venous leg ulcer patients. (1676216)
1991
35
Factor XIII deficiency in adult polycystic kidney disease. (1896103)
1991
36
Factor XIII subunit B deficiency. (2094340)
1990
37
Congenital factor XIII deficiency with treatment of factor XIII concentrate and normal vaginal delivery. (2358199)
1990
38
Clinical experience with a pasteurised human plasma concentrate in factor XIII deficiency. (3388293)
1988
39
Successful pregnancy in a woman with congenital factor XIII deficiency treated with substitutive therapy. Report of a second case. (3607295)
1987
40
Hereditary factor XIII deficiency. (3679479)
1987
41
A contribution to the pathology of acquired plasma factor XIII deficiency. (4071061)
1985
42
Acquired factor XIII deficiency with chronic myelomonocytic leukemia. (6579877)
1983
43
A case of factor XIII deficiency in an adult male. (7130118)
1982
44
Factor XIII deficiency. (7337960)
1981
45
Subunits A and S inheritance in four families with congenital factor XIII deficiency. (638074)
1978
46
Factor XIII deficiency in BALB/c mice with plasmacytoma. (908006)
1977
47
Proceedings: Factor XIII concentrate in the long term management of congenital factor XIII deficiency. (810913)
1975
48
A clinical and family study of factor XIII deficiency in a New Zealand family. (5284554)
1971
49
Factor XIII deficiency. A rare haemorrhagic disease. (5288877)
1971
50
Treatment of factor XIII deficiency with cryoprecipitate. (5710469)
1968

Genetic Variations for Factor Xii Deficiency

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Factor Xii Deficiency:

63 (show all 11)
id Symbol AA change Variation SNP ID
1F12p.Arg372ProVAR_006623
2F12p.Cys590SerVAR_006624
3F12p.Tyr53CysVAR_014426
4F12p.Arg142ProVAR_031500
5F12p.Ala411ThrVAR_031503
6F12p.Leu414MetVAR_031504
7F12p.Arg417GlnVAR_031505
8F12p.Gln440LysVAR_031506
9F12p.Asp461AsnVAR_031507
10F12p.Trp505CysVAR_031508
11F12p.Gly589ArgVAR_031509

Expression for genes affiliated with Factor Xii Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Factor Xii Deficiency

Search GEO for disease gene expression data for Factor Xii Deficiency.

Pathways for genes affiliated with Factor Xii Deficiency

Sources:
52QIAGEN, 12EMD Millipore, 54Reactome, 50PharmGKB, 30KEGG, 38NCBI BioSystems Database, 53R&D Systems
See all sources

Compounds for genes affiliated with Factor Xii Deficiency

Sources:
45Novoseek, 2BitterDB, 50PharmGKB, 11DrugBank, 24HMDB, 29IUPHAR, 60Tocris Bioscience
See all sources

Compounds related to Factor Xii Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 172)
idCompoundScoreTop Affiliating Genes
1coumarins4510.0F9, APOH, F3
2acetaminophen45 2 50 11 2413.9F9
3warfarin45 50 11 2412.6SERPINC1, VWF, F9, APOH
4rfviii459.2F5, F9, F8, VWF
5tributylphosphate459.2VWF, F8, F9
6inogatran459.1SERPINC1, F2, F3, F5
7ecarin459.1SERPINC1, F5, F3, F2
8organon459.1F3, F9, F2, SERPINC1
9spectrozyme459.1F2, F5, F3, SERPINC1
10danaparoid459.1F5, F3, SERPINC1, F2
11acenocoumarol45 50 1111.1F2, F3, F5, F9
12ximelagatran45 1110.0F3, F2, SERPINC1, F5
13cacl2459.0F9, F8, F3, F5
14dextran sulfate459.0F11, KNG1, F5, APOH, F9
15heparinoids459.0SERPINC1, F3, F2, F5
16benzamidine45 1110.0F9, PLAU, SERPINC1, F5
17bivalirudin45 1110.0F5, SERPINC1, F2, F3
18phenprocoumon45 50 1111.0SERPINC1, F2, F9, F3
19argatroban45 119.9F3, SERPINC1, F2, F5
20protamine sulfate458.9F2, SERPINC1, F3, F5
21fondaparinux458.8F2, F3, SERPINC1, F5, F9
22ppack458.8F3, VWF, SERPINC1, F2
23tirofiban45 119.8F3, SERPINC1, F2, VWF
24coumarin45 2 50 2411.7F2, F3, SERPINC1, F9, F5
25serine458.7KNG1, F9, F8, F11, F12
26epsilon aminocaproic acid458.6PLAU, SERPINC1, F2, F3, F9
27cyclophosphamide45 50 1110.5VWF, F9, APOH, F8, F5, F3
28heparin45 29 11 2411.5F12, F11, KNG1, F8, F9, APOH
29hydroxyethyl starch458.4F3, SERPINC1, F8, VWF, F2
30phosphatidylethanolamine45 119.4F9, APOH, F5, F2, F8
31endotoxin458.2F5, F3, KLKB1, F8, APOH, F9
32kaolin458.0F9, APOH, F8, F5, F12, F3
33pge1458.0KNG1, F2, VWF, APOH, F5, PLAU
34aprotinin45 118.9SERPINC1, PLAU, VWF, F3, F11, F5
35phosphatidylserine45 29 119.8F5, F2, VWF, F3, F9, F8
36citrate457.8SERPINC1, VWF, F3, F8, F9, F2
37tranexamic acid45 118.7SERPINC1, PLAU, F9, F8, F3, VWF
38prostacyclin457.6VWF, F3, KNG1, F5, SERPINC1, F8
39dermatan sulfate457.5VWF, F3, F11, F5, F9, F2
40phospholipid457.4F2, VWF, F3, F11, F5, F8
41ristocetin457.4F9, F8, F5, F11, F3, VWF
42homocysteine45 248.1F9, APOH, F8, F5, F11, F3
43arginine457.1PLAU, VWF, KNG1, F5, F8, APOH
44creatinine457.0F9, F2, F3, F5, F8, APOH
45desmopressin45 60 29 119.9F9, F11, F3, VWF, F2, F8
46hirudin456.9SERPINC1, F5, F3, F11, F8, F9
47estrogen456.9F2, F5, F9, PLAU, VWF, F8
48aspirin45 50 29 249.5SERPINC1, PLAU, F8, APOH, F5, KNG1
49kininogen456.0SERPINC1, PLAU, F2, VWF, F3, F12
50fibrinogen455.9SERPINC1, PLAU, F2, VWF, F3, F11

GO Terms for genes affiliated with Factor Xii Deficiency

Sources:
16Gene Ontology
See all sources

Cellular components related to Factor Xii Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:0310129.5APOH, VWF, F3
2platelet alpha granule lumenGO:0310938.3F5, KNG1, VWF, F8
3extracellular spaceGO:0056155.7APOH, PLAU, F2, F3, F12, F11
4plasma membraneGO:0058865.5KLKB1, F9, F8, F5, KNG1, F11
5extracellular regionGO:0055765.5SERPINC1, KLKB1, PLAU, F2, VWF, F12

Biological processes related to Factor Xii Deficiency according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1blood coagulation, extrinsic pathwayGO:00759810.0F3, F9
2Factor XII activationGO:0025429.9F12, KLKB1
3zymogen activationGO:0316389.8KLKB1, F12
4negative regulation of blood coagulationGO:0301959.7KNG1, APOH
5positive regulation of fibrinolysisGO:0519199.6F12, F11, KLKB1
6plasminogen activationGO:0316399.5KLKB1, APOH, F11
7positive regulation of blood coagulationGO:0301949.3F2, F12, APOH
8negative regulation of fibrinolysisGO:0519189.3F2, APOH
9peptidyl-glutamic acid carboxylationGO:0171879.1F2, F9
10platelet degranulationGO:0025768.8F8, F5, KNG1, VWF
11fibrinolysisGO:0427308.7KLKB1, F12, F2, PLAU
12platelet activationGO:0301688.0F8, F5, KNG1, VWF, F2
13proteolysisGO:0065087.9KLKB1, F9, F11, F12, F2, PLAU
14blood coagulation, intrinsic pathwayGO:0075976.7F2, VWF, F12, F11, KNG1, F8
15blood coagulationGO:0075965.6SERPINC1, KLKB1, F9, PLAU, F2, VWF

Molecular functions related to Factor Xii Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protease bindingGO:0020209.5F3, VWF, SERPINC1
2serine-type aminopeptidase activityGO:0700099.5F12, F11
3heparin bindingGO:0082018.8KNG1, APOH, SERPINC1, F11
4serine-type endopeptidase activityGO:0042527.8F9, PLAU, F2, F12, F11, KLKB1
5protein bindingGO:0055155.3F11, KNG1, F5, F8, F3, APOH

Products for genes affiliated with Factor Xii Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Factor Xii Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet