MCID: FCT005
MIFTS: 45

Factor Xiii Deficiency malady

Summaries for Factor Xiii Deficiency

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Factor xiii deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. signs and symptoms occur as the result of a deficiency in the blood clotting factor 13, which is responsible for stabilizing the formation of a blood clot. in affected individuals, the blood fails to clot appropriately, resulting in poor wound healing. blood may seep into surrounding soft tissues, resulting in local pain and swelling. internal bleeding may occur; about 25 percent of affected individuals experience bleeding in the brain. fxiii deficiency is usually caused by mutations in the f13a1 gene, but mutations have also been found in the f13b gene. it is usually inherited in an autosomal recessive fashion. acquired forms have also been reported in association with liver failure, inflammatory bowel disease, and myeloid leukemia. last updated: 8/16/2011

MalaCards: Factor Xiii Deficiency, also known as hereditary factor xiii deficiency disease, is related to factor xii deficiency and rheumatoid arthritis. An important gene associated with Factor Xiii Deficiency is F13A1 (coagulation factor XIII, A1 polypeptide), and among its related pathways are Selected targets of HNF1 and Gamma-carboxylation, transport, and amino-terminal cleavage of proteins. The compounds heparin and coumarins have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and myeloid, and related mouse phenotype homeostasis/metabolism.

Description from OMIM:46 613235,613225

Aliases & Classifications for Factor Xiii Deficiency

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8Disease Ontology, 42NIH Rare Diseases, 60UMLS, 34MeSH, 56SNOMED-CT, 46OMIM
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Aliases & Descriptions:

factor xiii deficiency 8 42 60
hereditary factor xiii deficiency disease 8
fibrin stabilizing factor deficiency 42
congenital factor xiii deficiency 42
deficiency, laki-lorand factor 8
factor xiii deficiency disease 8


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Disease Ontology8 DOID:2211
MeSH34 D005177
SNOMED-CT56 18604004, 50189006

Related Diseases for Factor Xiii Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Factor Xiii Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 85)
idRelated DiseaseScoreTop Affiliating Genes
1factor xii deficiency30.5F5, F3
2rheumatoid arthritis30.4F13A1
3myocardial infarction30.4F3, F13A1, F5, SERPINF2
4von willebrand's disease30.1F3, F2
5acute myocardial infarction30.1F3, SERPINF2
6factor v deficiency30.1F5, F3, F2
7factor xiiia deficiency10.4
8factor xiiib deficiency10.4
9cerebritis10.3
10arthritis10.3
11glomerulonephritis10.3
12polycystic kidney disease10.1
13arthropathy10.1
14compartment syndrome10.1
15kidney disease10.1
16leukemia10.1
17plasmacytoma10.1
18purpura10.1
19vaginitis10.1
20cerebrovascular disease10.0F13A1
21purpura fulminans10.0F5
22patent foramen ovale10.0F5
23retinal vein occlusion10.0F5
24varicose veins10.0F2
25ovarian hyperstimulation syndrome10.0F5
26hellp syndrome10.0F5
27sagittal sinus thrombosis10.0F5
28hepatitis a10.0F2
29hemangioma10.0F13A1
30hepatitis10.0F2
31hepatitis b10.0F2
32homocysteinemia10.0F5
33peritonitis10.0F2
34viral hepatitis10.0F2
35central retinal vein occlusion10.0F5
36respiratory failure10.0F3
37cholestasis10.0F2
38coronary thrombosis10.0F3
39nephrotic syndrome10.0SERPINF2
40coronary heart disease10.0SERPINF2
41schistosomiasis10.0SERPINF2
42protein c deficiency10.0F2, F5
43portal vein thrombosis10.0F2, F5
44hemarthrosis10.0F3, F13B
45stroke, ischemic10.0F2, F5
46hepatitis c10.0F2
47prothrombin deficiency10.0F2, F5
48hypertension10.0F5, F2
49hyperhomocysteinemia10.0F2, F5
50blood protein disease10.0F2, F5

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



Diseases related to factor xiii deficiency

Clinical Features for Factor Xiii Deficiency

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46OMIM
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Clinical features from OMIM:

613235,613225

Drugs & Therapeutics for Factor Xiii Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Factor Xiii Deficiency

Drug clinical trials:

Search ClinicalTrials for Factor Xiii Deficiency

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Search CenterWatch for Factor Xiii Deficiency

Genetic Tests for Factor Xiii Deficiency

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Anatomical Context for Factor Xiii Deficiency

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32MalaCards
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MalaCards organs/tissues related to Factor Xiii Deficiency:

32
Brain, Liver, Myeloid, Testes, Spleen, Kidney, Breast

Animal Models for Factor Xiii Deficiency or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Factor Xiii Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.6SERPINF2, F2, F3, F13A1, F5

Publications for Factor Xiii Deficiency

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50PubMed
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Articles related to Factor Xiii Deficiency:

(show top 50)    (show all 197)
idTitleAuthorsYear
1
Acquired factor XIII deficiency: still a clinical challenge in the era of novel therapy. (24354481)
2014
2
Factor XIII deficiency: complete phenotypic characterization of two cases with novel causative mutations. (24118344)
2014
3
Polymorphism of thrombin-activatable fibrinolysis inhibitor and risk of intracranial haemorrhage in factor XIII deficiency. (24354489)
2014
4
Spontaneous Epidural Hematoma in a Child With Inherited Factor XIII Deficiency. (23619114)
2014
5
A child with acquired factor XIII deficiency: case report and literature review. (23607876)
2013
6
Post-infectious acute glomerulonephritis and transient coagulation factor XIII deficiency associated with acute parvovirus B19 infection in a young woman--reply. (23683879)
2013
7
New developments in the management of congenital Factor XIII deficiency. (23761984)
2013
8
Thromboelastometric detection of clotting Factor XIII deficiency in cardiac surgery patients. (23962029)
2013
9
Further evidence of heterogeneity of gene defects in Italian families with factor XIII deficiency. (21812861)
2012
10
Hemorrhagic-acquired factor XIII deficiency associated with tocilizumab for treatment of rheumatoid arthritis. (23070535)
2012
11
Corifacta8c/FibrogamminAr P in the prophylactic treatment of hereditary factor XIII deficiency: results of a prospective, multicenter, open-label study. (23439001)
2012
12
Posttraumatic subgaleal and orbital hematoma due to factor XIII deficiency. (21284470)
2011
13
Factor XIII Deficiency in Siblings: Importance of Prophylactic Replacement. (22942571)
2011
14
Factor XIII deficiency: report of two cases. (21189773)
2010
15
Management of acute myocardial infarction in a patient with factor XIII deficiency using prophylactic factor replacement therapy. (17961171)
2008
16
Phenotype-genotype correlation in eight Polish patients with inherited Factor XIII deficiency: identification of three novel mutations. (17880458)
2007
17
A novel compound heterozygous mutation in the F13A gene causing hereditary factor XIII deficiency in a Chinese family. (16409483)
2006
18
Factor XIII deficiency causes cardiac rupture, impairs wound healing, and aggravates cardiac remodeling in mice with myocardial infarction. (16505171)
2006
19
Factor XIII deficiency: new nonsense and deletion mutations in the human factor XIIIA gene. (16330458)
2005
20
Phenotype-genotype characterization of 10 families with severe a subunit factor XIII deficiency. (14695539)
2004
21
Factor XIII deficiency in south-east Iran. (15357772)
2004
22
Factor XIII deficiency associated with valproate treatment. (14738427)
2004
23
Valproate induces reversible factor XIII deficiency with risk of perioperative bleeding. (12859294)
2003
24
Problems relating to the laboratory diagnosis of factor XIII deficiency: a UK NEQAS study. (14675096)
2003
25
Combined occurrence of von Willebrand's disease and factor XIII deficiency: a case report. (15022915)
2003
26
Identification of a new Leu354Pro mutation responsible for factor XIII deficiency. (11168522)
2001
27
Recurrent bleeding following rhinoplasty due to factor XIII deficiency. (11698876)
2001
28
Bleeding risk and reproductive capacity among patients with factor XIII deficiency: a case presentation and review of the literature. (10674253)
2000
29
Factor XIII deficiency causing mutation, Ser295Arg, in exon 7 of the factor XIIIA gene. (11057855)
2000
30
Arg260-Cys mutation in severe factor XIII deficiency: conformational change of the A subunit is predicted by molecular modelling and mechanics. (9609521)
1998
31
Application of HUMF13A01 (AAAG)n STR polymorphism to the genetic diagnosis of coagulation factor XIII deficiency. (8972004)
1996
32
Congenital factor XIII deficiency. (1428130)
1992
33
Identification of a point mutation in factor XIII A subunit deficiency. (1353995)
1992
34
Intraspinal hemorrhage in a child with factor XIII deficiency. (1758779)
1991
35
Factor XIII deficiency and intracranial hemorrhages in infancy. (2206163)
1990
36
Congenital factor XIII deficiency associated with von Willebrand disease. (2220766)
1990
37
Congenital factor XIII deficiency with treatment of factor XIII concentrate and normal vaginal delivery. (2358199)
1990
38
Congenital factor XIII deficiency with multiple benign breast tumours and successful pregnancy with substitutive therapy. A case report. (2620871)
1989
39
Clinical experience with a pasteurised human plasma concentrate in factor XIII deficiency. (3388293)
1988
40
A new family with congenital factor XIII deficiency showing a deficit of both subunit A and B. Type I factor XIII deficiency. (2891592)
1987
41
Congenital factor XIII deficiency: type I and type II disease. (4005184)
1985
42
Acquired factor XIII deficiency with chronic myelomonocytic leukemia. (6579877)
1983
43
Factor XIII deficiency associated with Klippel-Weber disease, platelet dysfunction and cryofibrinogenemia. (6305083)
1983
44
Fibrin cross-linking in congenital factor XIII deficiency. (7400341)
1980
45
Congenital factor XIII deficiency. (610333)
1977
46
Factor XIII deficiency in BALB/c mice with plasmacytoma. (908006)
1977
47
Factor XIII deficiency. Treatment with monthly plasma infusions. (5819238)
1969
48
Ocular complications of factor XIII deficiency. (5312901)
1969
49
Congenital factor XIII deficiency. Report of 2 cases. (5271545)
1969
50
Ocular complications of factor XIII deficiency. (5774246)
1969

Genetic Variations for Factor Xiii Deficiency

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Expression for genes affiliated with Factor Xiii Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Factor Xiii Deficiency

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Pathways for genes affiliated with Factor Xiii Deficiency

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12EMD Millipore, 53Reactome, 49PharmGKB, 51QIAGEN, 29KEGG, 37NCBI BioSystems Database, 52R&D Systems
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Compounds for genes affiliated with Factor Xiii Deficiency

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44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Factor Xiii Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 84)
idCompoundScoreTop Affiliating Genes
1heparin44 28 11 2413.5F13A1
2coumarins4410.3F3
3brodifacoum4410.2F3
4aprosulate4410.2F3
5monoethylglycinexylidide4410.2F5
6hirugen449.7F2, F5
7napsagatran449.7F3, F2
8hemochron449.7F3, F2
9appt449.6F2, F3
10certoparin449.6F2, F3
11heparin sodium449.6F2, F3
12dextran 70449.6F3, F2
13polybrene449.6F2, F3
14batroxobin449.6F5, F2
15s-warfarin449.6F3, F2
16hepaplastin449.5F2, F3
17ancrod449.5F2, F5
18organon449.4F2, F3
19fibrinopeptide a449.4SERPINF2, F2
20rivaroxaban44 1110.3F2, F3
21inogatran449.3F5, F2, F3
22ecarin449.2F5, F3, F2
23spectrozyme449.2F5, F3, F2
24danaparoid449.2F2, F3, F5
25ximelagatran44 1110.2F5, F3, F2
26kaolin449.2F2, F3, F5
27fondaparinux449.2F3, F2, F5
28acenocoumarol44 49 1111.2F3, F5, F2
29bivalirudin44 1110.2F5, F3, F2
30argatroban44 1110.2F5, F3, F2
31protamine sulfate449.2F5, F2, F3
32gamma-carboxyglutamic acid449.2F5, F2, F3
33levonorgestrel44 59 28 1112.2F3, F2, F5
34coumarin44 2 49 2412.2F5, F3, F2
35cardiolipin44 1110.2F2, F3, F5
36protamine449.1F3, F2, F5
37dermatan sulfate449.1F2, F3, F5
38vitamin k144 2410.0F2, F3
39aprotinin44 119.9F3, SERPINF2, F5
40epsilon aminocaproic acid448.9SERPINF2, F3, F2
41heparinoids448.9F3, F2, F13A1, F5
42aspirin44 49 28 2411.8F2, F13A1, F3, F5
43urea44 11 2410.7F5, F13A1, SERPINF2
44homocysteine44 249.7F3, F5, F2
45ristocetin448.4SERPINF2, F2, F3, F5
46desmopressin44 59 28 1111.4SERPINF2, F2, F5, F3
47hirudin448.4SERPINF2, F2, F3, F5
48epinephrine44 11 2410.3SERPINF2, F3, F5, F2
49kininogen448.0SERPINF2, F2, F5, F3, F13A1
50fibrinogen448.0SERPINF2, F2, F3, F5, F13A1

GO Terms for genes affiliated with Factor Xiii Deficiency

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16Gene Ontology
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Cellular components related to Factor Xiii Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310938.6SERPINF2, F13A1, F5
2extracellular spaceGO:0056158.0SERPINF2, F2, F3, F5
3extracellular regionGO:0055767.4F5, F13B, F13A1, F2, SERPINF2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of fibrinolysisGO:0519189.1SERPINF2, F2
2acute-phase responseGO:0069539.1SERPINF2, F2
3fibrinolysisGO:0427309.0SERPINF2, F2
4positive regulation of collagen biosynthetic processGO:0329678.8SERPINF2, F2
5platelet degranulationGO:0025768.8F5, F13A1, SERPINF2
6platelet activationGO:0301688.3SERPINF2, F2, F13A1, F5
7blood coagulationGO:0075967.3SERPINF2, F5, F13B, F13A1, F3, F2

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

idNameGO IDScoreTop Affiliating Genes
1protease bindingGO:0020209.0SERPINF2, F3

Products for genes affiliated with Factor Xiii Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Factor Xiii Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet