MCID: FCT005
MIFTS: 49

Factor Xiii Deficiency malady

Rare diseases, Blood diseases categories

Summaries for Factor Xiii Deficiency

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 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 liver, brain and myeloid, and related mouse phenotypes are cardiovascular system and homeostasis/metabolism.

Description from OMIM:48 613225,613235

Aliases & Classifications for Factor Xiii Deficiency

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9Disease Ontology, 44NIH Rare Diseases, 63UMLS, 36MeSH, 48OMIM, 59SNOMED-CT
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Classifications:

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


Aliases & Descriptions:

factor xiii deficiency 9 44 63
hereditary factor xiii deficiency disease 9
fibrin stabilizing factor deficiency 44
congenital factor xiii deficiency 44
deficiency, laki-lorand factor 9
factor xiii deficiency disease 9


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Disease Ontology9 DOID:2211
MeSH36 D005177
SNOMED-CT59 18604004, 50189006

Related Diseases for Factor Xiii Deficiency

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18GeneCards, 19GeneDecks
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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 74)
idRelated DiseaseScoreTop Affiliating Genes
1factor xiiia deficiency30.8F13A1
2factor xii deficiency30.7F3, F5
3myocardial infarction30.3F13A1, SERPINF2, F5, F3
4von willebrand's disease30.3F2, F3
5acute myocardial infarction30.1F3, SERPINF2
6factor xiiib deficiency10.4
7cerebritis10.3
8arthritis10.3
9glomerulonephritis10.3
10rheumatoid arthritis10.3
11polycystic kidney disease10.2
12arthropathy10.2
13compartment syndrome10.2
14kidney disease10.2
15leukemia10.2
16plasmacytoma10.2
17purpura10.2
18vaginitis10.2
19cardiac rupture10.2
20child syndrome10.2
21chronic myelomonocytic leukemia10.2
22cryofibrinogenemia10.2
23purpura fulminans10.1F5
24varicose veins10.1F2
25sagittal sinus thrombosis10.1F5
26coronary thrombosis10.1F3
27homocysteinemia10.1F5
28central retinal vein occlusion10.1F5
29hemarthrosis10.0F3, F13B
30hemophilia b10.0F2, F3
31vitamin k deficiency hemorrhagic disease10.0F3, F2
32prothrombin deficiency10.0F2, F5
33blood protein disease10.0F2, F5
34intracranial thrombosis10.0F5, F3
35portal vein thrombosis10.0F2, F5
36antithrombin iii deficiency10.0F5, F2
37leukopenia10.0F3, F2
38scott syndrome10.0F5, F2
39placental abruption10.0F2, F5
40protein c deficiency10.0F2, F5
41connective tissue disease10.0F2, F3
42hyperhomocysteinemia10.0F5, F2
43primary hyperoxaluria10.0F3, F2
44stroke, ischemic10.0F2, F5
45dysfibrinogenemia10.0F5, F13A1, F2
46septic shock10.0F5, F3
47congenital heart disease10.0F3, F2
48factor x deficiency10.0F2, F3, F5
49factor v deficiency10.0F2, F5, F3
50factor xi deficiency10.0F5, 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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48OMIM
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Clinical features from OMIM:

613225,613235

Drugs & Therapeutics for Factor Xiii Deficiency

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Factor Xiii Deficiency

Drug clinical trials:

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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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34MalaCards
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MalaCards organs/tissues related to Factor Xiii Deficiency:

34
Liver, Brain, Myeloid, Testes, Spleen, Kidney, Breast

Animal Models for Factor Xiii Deficiency or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Factor Xiii Deficiency:

38
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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53PubMed
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Articles related to Factor Xiii Deficiency:

(show top 50)    (show all 183)
idTitleAuthorsYear
1
Acquired factor XIII deficiency: still a clinical challenge in the era of novel therapy. (24354481)
2014
2
Factor XIII deficiency management: a review of the literature. (24401950)
2014
3
Biology of Factor XIII and clinical manifestations of Factor XIII deficiency. (22928875)
2013
4
Recurrent Spontaneous Splenic Rupture in a Patient With Congenital Factor XIII Deficiency. (24351968)
2013
5
Relevant bleeding diathesis due to acquired factor XIII deficiency. (24169946)
2013
6
Successful use of recombinant factor VIIa in a child with Schoenlein-Henoch purpura presenting with compartment syndrome and severe factor XIII deficiency. (23103728)
2013
7
A child with acquired factor XIII deficiency: case report and literature review. (23607876)
2013
8
Post-infectious acute glomerulonephritis and transient coagulation factor XIII deficiency associated with acute parvovirus B19 infection in a young woman. (23683878)
2013
9
Post-infectious acute glomerulonephritis and transient coagulation factor XIII deficiency associated with acute parvovirus B19 infection in a young woman--reply. (23683879)
2013
10
Further evidence of heterogeneity of gene defects in Italian families with factor XIII deficiency. (21812861)
2012
11
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
12
Posttraumatic subgaleal and orbital hematoma due to factor XIII deficiency. (21284470)
2011
13
Successful long-term replacement therapy with FXIII concentrate (Fibrogammin(Ar) P) for severe congenital factor XIII deficiency: a prospective multicentre study. (21481176)
2011
14
Induction of hemodialysis therapy in a case with factor XIII deficiency. (21710188)
2011
15
Novel aspects of factor XIII deficiency. (21738029)
2011
16
Factor XIII deficiency as a potential cause of supratentorial haemorrhage after posterior fossa surgery. (19557304)
2010
17
Factor XIII deficiency: report of two cases. (21189773)
2010
18
Subgaleal hematoma presenting as a manifestation of Factor XIII deficiency. (19255750)
2009
19
Factor XIII deficiency: a differential diagnosis to be considered in suspected nonaccidental injury presenting with intracranial hemorrhage. (18057145)
2008
20
Congenital blood coagulation factor XIII deficiency and successful deliveries: a review of the literature. (17371605)
2007
21
Cerebral thrombosis associated with heterozygous factor V Leiden mutation and high lipoprotein(a) level in a girl with factor XIII deficiency. (17473580)
2007
22
Safety and pharmacokinetics of recombinant factor XIII-A2 administration in patients with congenital factor XIII deficiency. (16556896)
2006
23
Prophylactic and perioperative replacement therapy for acquired factor XIII deficiency: reply to a rebuttal. (15634290)
2005
24
Factor XIII deficiency: new nonsense and deletion mutations in the human factor XIIIA gene. (16330458)
2005
25
Factor XIII deficiency in south-east Iran. (15357772)
2004
26
Seven novel mutations in the factor XIII A-subunit gene causing hereditary factor XIII deficiency in 10 unrelated families. (15456491)
2004
27
Pattern of symptoms in 93 Iranian patients with severe factor XIII deficiency. (12911609)
2003
28
Bleeding risk and reproductive capacity among patients with factor XIII deficiency: a case presentation and review of the literature. (10674253)
2000
29
Arg260-Cys mutation in severe factor XIII deficiency: conformational change of the A subunit is predicted by molecular modelling and mechanics. (9609521)
1998
30
Factor concentrates for the treatment of factor XIII deficiency. (9814641)
1998
31
Factor XIII deficiency due to a Leu660Pro mutation in the factor XIII subunit-a gene in three unrelated Palestinian Arab families. (9241732)
1997
32
ETRO Working Party on Factor XIII questionnaire on congenital factor XIII deficiency in Europe: status and perspectives. Study Group. (8989825)
1996
33
Factor XIII deficiency: pathogenic mechanisms and clinical significance. (8989826)
1996
34
Molecular basis of inherited factor XIII deficiency: identification of multiple mutations provides insights into protein function. (8555083)
1995
35
Congenital factor XIII deficiency. (8005932)
1993
36
Factor XIII deficiency in Pakistan. (8230654)
1993
37
Congenital factor XIII deficiency. A family report. (1816054)
1991
38
Factor XIII-deficiency in the blood of venous leg ulcer patients. (1676216)
1991
39
Congenital factor XIII deficiency: two case reports. (1938825)
1991
40
Factor XIII deficiency and intracranial hemorrhages in infancy. (2206163)
1990
41
Congenital factor XIII deficiency with multiple benign breast tumours and successful pregnancy with substitutive therapy. A case report. (2620871)
1989
42
Congenital factor XIII deficiency: a case report and review of literature. (2687169)
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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2BioGPS, 16Gene Expression Omnibus DataSets
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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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51PathCards, 13EMD Millipore, 56Reactome, 54QIAGEN, 31KEGG, 39NCBI BioSystems Database, 55R&D Systems
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Compounds for genes affiliated with Factor Xiii Deficiency

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46Novoseek, 12DrugBank, 52PharmGKB, 62Tocris Bioscience, 30IUPHAR, 3BitterDB, 25HMDB
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Compounds related to Factor Xiii Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 90)
idCompoundScoreTop Affiliating Genes
1mnpt469.8F3, F2
2brodifacoum469.8F3, F2
3aprosulate469.8F2, F3
4napsagatran469.8F3, F2
5appt469.7F3, F2
6certoparin469.7F3, F2
7hemochron469.7F2, F3
8heparin sodium469.7F2, F3
9dextran 70469.7F3, F2
10polybrene469.7F2, F3
11hirugen469.6F5, F2
12s-warfarin469.6F3, F2
13batroxobin469.5F2, F5
14hepaplastin469.4F2, F3
15rivaroxaban46 1210.4F3, F2
16monoethylglycinexylidide469.4F5, F2
17organon469.3F3, F2
18inogatran469.3F5, F2, F3
19ecarin469.2F3, F5, F2
20spectrozyme469.2F3, F2, F5
21fibrinopeptide a469.2SERPINF2, F2
22danaparoid469.2F3, F2, F5
23kaolin469.2F3, F2, F5
24ximelagatran46 1210.2F2, F5, F3
25fondaparinux469.2F3, F2, F5
26acenocoumarol46 52 1211.2F2, F3, F5
27bivalirudin46 1210.2F2, F3, F5
28coumarins469.2F5, F2, F3
29argatroban46 1210.2F3, F5, F2
30protamine sulfate469.2F5, F3, F2
31gamma-carboxyglutamic acid469.2F5, F3, F2
32levonorgestrel46 62 30 1212.2F2, F3, F5
33coumarin46 3 52 2512.2F2, F3, F5
34cardiolipin46 1210.2F5, F3, F2
35protamine469.1F2, F3, F5
36dermatan sulfate469.1F5, F2, F3
37warfarin46 52 25 1212.1F2, F3, F5
38ancrod469.0F2, F5
39homocysteine46 2510.0F2, F3, F5
40epsilon aminocaproic acid469.0SERPINF2, F2, F3
41heparinoids468.9F3, F5, F2, F13A1
42aspirin46 52 30 2511.8F5, F3, F13A1, F2
43ristocetin468.4SERPINF2, F3, F2, F5
44desmopressin46 62 30 1211.4F3, F5, F2, SERPINF2
45hirudin468.4F5, F2, SERPINF2, F3
46aprotinin46 129.4F2, F3, F5, SERPINF2
47epinephrine46 25 1210.4F2, SERPINF2, F5, F3
48kininogen468.0F2, F13A1, SERPINF2, F3, F5
49fibrinogen468.0F5, F3, SERPINF2, F13A1, F2
50heparin46 30 25 1211.0F5, F3, SERPINF2, F13A1, F2

GO Terms for genes affiliated with Factor Xiii Deficiency

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17Gene Ontology
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Cellular components related to Factor Xiii Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310938.6F5, 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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Sources for Factor Xiii Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet