MCID: FCT005
MIFTS: 50

Factor Xiii Deficiency malady

Rare diseases, Blood diseases categories
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Summaries for Factor Xiii Deficiency

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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 based summary: Factor Xiii Deficiency, also known as hereditary factor xiii deficiency disease, is related to factor xiiia deficiency and factor xii deficiency. 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 Response to elevated platelet cytosolic Ca2+. The compounds mnpt and brodifacoum have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and myeloid, and related mouse phenotypes are cardiovascular system and homeostasis/metabolism.

Descriptions from OMIM:46 613235,613225

Aliases & Classifications for Factor Xiii Deficiency

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Factor Xiii Deficiency, Aliases & Descriptions:

Name: Factor Xiii Deficiency 8 42 62
Hereditary Factor Xiii Deficiency Disease 8 62
Factor Xiii Deficiency Disease 8 62
Fibrin Stabilizing Factor Deficiency 42
 
Fibrin Stabilising Factor Deficiency 62
Factor Xiii Deficiency, Congenital 62
Congenital Factor Xiii Deficiency 42
Deficiency, Laki-Lorand Factor 8


Classifications:

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


External Ids:

Disease Ontology8 DOID:2211
SNOMED-CT57 18604004, 50189006
MeSH34 D005177

Related Diseases for Factor Xiii Deficiency

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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 76)
idRelated DiseaseScoreTop Affiliating Genes
1factor xiiia deficiency31.5F13A1
2factor xii deficiency30.9F3, F5
3von willebrand's disease30.5F3, F2
4myocardial infarction29.9F13A1, SERPINF2, F3, F5
5acute myocardial infarction29.9F3, SERPINF2
6factor xiiib deficiency10.4
7varicose veins10.4F2
8sagittal sinus thrombosis10.4F5
9coronary thrombosis10.4F3
10homocysteinemia10.3F5
11central retinal vein occlusion10.3F5
12arthritis10.3
13glomerulonephritis10.3
14rheumatoid arthritis10.3
15cerebritis10.3
16purpura10.3
17hemarthrosis10.2F13B, F3
18hemophilia b10.2F3, F2
19vitamin k deficiency hemorrhagic disease10.2F2, F3
20chronic myelomonocytic leukemia10.2
21hepatitis10.2
22leukemia10.2
23hepatitis c10.2
24polycystic kidney disease10.2
25arthropathy10.2
26colitis10.2
27compartment syndrome10.2
28kidney disease10.2
29plasmacytoma10.2
30vaginitis10.2
31cardiac rupture10.2
32child syndrome10.2
33cryofibrinogenemia10.2
34prothrombin deficiency10.1F2, F5
35blood protein disease10.1F2, F5
36portal vein thrombosis10.1F2, F5
37antithrombin iii deficiency10.1F2, F5
38intracranial thrombosis10.1F3, F5
39leukopenia10.1F3, F2
40placental abruption10.1F2, F5
41scott syndrome10.1F2, F5
42protein c deficiency10.1F2, F5
43connective tissue disease10.1F2, F3
44hyperhomocysteinemia10.1F2, F5
45primary hyperoxaluria10.0F3, F2
46stroke, ischemic10.0F5, F2
47dysfibrinogenemia10.0F2, F13A1, F5
48septic shock10.0F3, F5
49congenital heart disease10.0F3, F2
50factor x deficiency9.9F5, F3, F2

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



Diseases related to factor xiii deficiency

Symptoms for Factor Xiii Deficiency

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Clinical features from OMIM:

613235,613225

Drugs & Therapeutics for Factor Xiii Deficiency

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Drug clinical trials:

Search ClinicalTrials for Factor Xiii Deficiency

Search NIH Clinical Center for Factor Xiii Deficiency

Genetic Tests for Factor Xiii Deficiency

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Anatomical Context for Factor Xiii Deficiency

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MalaCards organs/tissues related to Factor Xiii Deficiency:

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

Animal Models for Factor Xiii Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Factor Xiii Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.4F5, F3, F13A1, F2
2MP:00053767.3F5, F3, SERPINF2, F13A1, F2

Publications for Factor Xiii Deficiency

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Articles related to Factor Xiii Deficiency:

(show top 50)    (show all 198)
idTitleAuthorsYear
1
Fibrinogen but not factor XIII deficiency is associated with bleeding after craniotomy. (24871873)
2014
2
Novel and recurrent mutations in the F13A1 gene in unrelated Korean patients with congenital factor XIII deficiency. (25004025)
2014
3
Diagnosis and management of severe congenital factor XIII deficiency in the Emergency Department: lessons from a "model" family. (25369590)
2014
4
Acquired factor XIII deficiency: still a clinical challenge in the era of novel therapy. (24354481)
2014
5
Factor XIII deficiency management: a review of the literature. (24401950)
2014
6
Biology of Factor XIII and clinical manifestations of Factor XIII deficiency. (22928875)
2013
7
Recurrent Spontaneous Splenic Rupture in a Patient With Congenital Factor XIII Deficiency. (24351968)
2013
8
Relevant bleeding diathesis due to acquired factor XIII deficiency. (24169946)
2013
9
Successful use of recombinant factor VIIa in a child with Schoenlein-Henoch purpura presenting with compartment syndrome and severe factor XIII deficiency. (23103728)
2013
10
A child with acquired factor XIII deficiency: case report and literature review. (23607876)
2013
11
Post-infectious acute glomerulonephritis and transient coagulation factor XIII deficiency associated with acute parvovirus B19 infection in a young woman. (23683878)
2013
12
Further evidence of heterogeneity of gene defects in Italian families with factor XIII deficiency. (21812861)
2012
13
Reduced difference of I+a88-plasmin inhibitor levels between plasma and serum in patients with severe factor XIII deficiency, including autoimmune hemorrhaphilia due to anti-factor XIII antibodies. (22205503)
2012
14
Posttraumatic subgaleal and orbital hematoma due to factor XIII deficiency. (21284470)
2011
15
Successful long-term replacement therapy with FXIII concentrate (Fibrogammin(Ar) P) for severe congenital factor XIII deficiency: a prospective multicentre study. (21481176)
2011
16
Induction of hemodialysis therapy in a case with factor XIII deficiency. (21710188)
2011
17
Novel aspects of factor XIII deficiency. (21738029)
2011
18
Factor XIII deficiency as a potential cause of supratentorial haemorrhage after posterior fossa surgery. (19557304)
2010
19
Factor XIII deficiency: report of two cases. (21189773)
2010
20
Subgaleal hematoma presenting as a manifestation of Factor XIII deficiency. (19255750)
2009
21
Congenital blood coagulation factor XIII deficiency and successful deliveries: a review of the literature. (17371605)
2007
22
Cerebral thrombosis associated with heterozygous factor V Leiden mutation and high lipoprotein(a) level in a girl with factor XIII deficiency. (17473580)
2007
23
Safety and pharmacokinetics of recombinant factor XIII-A2 administration in patients with congenital factor XIII deficiency. (16556896)
2006
24
Prophylactic and perioperative replacement therapy for acquired factor XIII deficiency: reply to a rebuttal. (15634290)
2005
25
Factor XIII deficiency: new nonsense and deletion mutations in the human factor XIIIA gene. (16330458)
2005
26
Phenotype-genotype characterization of 10 families with severe a subunit factor XIII deficiency. (14695539)
2004
27
Factor XIII deficiency in south-east Iran. (15357772)
2004
28
Pattern of symptoms in 93 Iranian patients with severe factor XIII deficiency. (12911609)
2003
29
Bleeding risk and reproductive capacity among patients with factor XIII deficiency: a case presentation and review of the literature. (10674253)
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
Factor concentrates for the treatment of factor XIII deficiency. (9814641)
1998
32
Factor XIII deficiency due to a Leu660Pro mutation in the factor XIII subunit-a gene in three unrelated Palestinian Arab families. (9241732)
1997
33
ETRO Working Party on Factor XIII questionnaire on congenital factor XIII deficiency in Europe: status and perspectives. Study Group. (8989825)
1996
34
Factor XIII deficiency: pathogenic mechanisms and clinical significance. (8989826)
1996
35
Molecular basis of inherited factor XIII deficiency: identification of multiple mutations provides insights into protein function. (8555083)
1995
36
Congenital factor XIII deficiency. (8005932)
1993
37
Factor XIII deficiency in Pakistan. (8230654)
1993
38
Congenital factor XIII deficiency. A family report. (1816054)
1991
39
Factor XIII-deficiency in the blood of venous leg ulcer patients. (1676216)
1991
40
Congenital factor XIII deficiency: two case reports. (1938825)
1991
41
Factor XIII deficiency and intracranial hemorrhages in infancy. (2206163)
1990
42
Congenital factor XIII deficiency with multiple benign breast tumours and successful pregnancy with substitutive therapy. A case report. (2620871)
1989
43
Congenital factor XIII deficiency: type I and type II disease. (4005184)
1985
44
Factor XIII levels in five families of patients with inherited factor XIII deficiency: support for an autosomal recessive inheritance. (6636036)
1983
45
Studies on factor XIII antigen in congenital factor XIII deficiency. A tentative classification of the disease in two groups. (77814)
1978
46
Congenital factor XIII deficiency. (610333)
1977
47
Platelet aggregation in congenital factor XIII deficiency. (826089)
1976
48
Rheological properties of fibrin clots. Effects of fibrinogen concentration, Factor XIII deficiency, and Factor XIII inhibition. (1176815)
1975
49
Documentation of the plasma factor XIII deficiency in man. (4508922)
1972
50
Blood factor XIII deficiency: review of literature and report of case. (4935503)
1971

Variations for Factor Xiii Deficiency

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Expression for genes affiliated with Factor Xiii Deficiency

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Expression patterns in normal tissues for genes affiliated with Factor Xiii Deficiency

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

Pathways for genes affiliated with Factor Xiii Deficiency

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Compounds for genes affiliated with Factor Xiii Deficiency

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

(show top 50)    (show all 90)
idCompoundScoreTop Affiliating Genes
1mnpt449.8F3, F2
2brodifacoum449.8F3, F2
3aprosulate449.8F2, F3
4napsagatran449.8F3, F2
5appt449.7F3, F2
6certoparin449.7F3, F2
7hemochron449.7F2, F3
8heparin sodium449.7F2, F3
9dextran 70449.7F3, F2
10polybrene449.7F2, F3
11hirugen449.6F5, F2
12s-warfarin449.6F3, F2
13batroxobin449.5F2, F5
14hepaplastin449.4F2, F3
15rivaroxaban44 1110.4F3, F2
16monoethylglycinexylidide449.4F5, F2
17organon449.3F3, F2
18inogatran449.3F5, F2, F3
19ecarin449.2F3, F5, F2
20spectrozyme449.2F3, F2, F5
21fibrinopeptide a449.2SERPINF2, F2
22danaparoid449.2F3, F2, F5
23kaolin449.2F3, F2, F5
24ximelagatran44 1110.2F2, F5, F3
25fondaparinux449.2F3, F2, F5
26acenocoumarol44 50 1111.2F2, F3, F5
27bivalirudin44 1110.2F2, F3, F5
28coumarins449.2F5, F2, F3
29argatroban44 1110.2F3, F5, F2
30protamine sulfate449.2F5, F3, F2
31gamma-carboxyglutamic acid449.2F5, F3, F2
32levonorgestrel44 61 28 1112.2F2, F3, F5
33coumarin44 2 50 2412.2F2, F3, F5
34cardiolipin44 1110.2F5, F3, F2
35protamine449.1F2, F3, F5
36dermatan sulfate449.1F5, F2, F3
37warfarin44 50 24 1112.1F2, F3, F5
38ancrod449.0F2, F5
39homocysteine44 2410.0F2, F3, F5
40epsilon aminocaproic acid449.0SERPINF2, F2, F3
41heparinoids448.9F3, F5, F2, F13A1
42aspirin44 50 28 2411.8F5, F3, F13A1, F2
43ristocetin448.4SERPINF2, F3, F2, F5
44desmopressin44 61 28 1111.4F3, F5, F2, SERPINF2
45hirudin448.4F5, F2, SERPINF2, F3
46aprotinin44 119.4F2, F3, F5, SERPINF2
47epinephrine44 24 1110.4F2, SERPINF2, F5, F3
48kininogen448.0F2, F13A1, SERPINF2, F3, F5
49fibrinogen448.0F5, F3, SERPINF2, F13A1, F2
50heparin44 28 24 1111.0F5, F3, SERPINF2, F13A1, F2

GO Terms for genes affiliated with Factor Xiii Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310938.6F5, SERPINF2, F13A1
2blood microparticleGO:0725628.4SERPINF2, F13A1, F2
3extracellular spaceGO:0056158.0F5, F3, SERPINF2, F2
4extracellular regionGO:0055767.5F2, F13A1, F13B, SERPINF2, F5

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:0025768.7F13A1, SERPINF2, F5
6platelet activationGO:0301688.2F5, SERPINF2, F13A1, F2
7blood coagulationGO:0075967.3F5, F2, F13A1, F13B, SERPINF2, F3

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

idNameGO IDScoreTop Affiliating Genes
1protease bindingGO:0020209.1F3, SERPINF2

Products for genes affiliated with Factor Xiii Deficiency

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet