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
Recurrent Spontaneous Splenic Rupture in a Patient With Congenital Factor XIII Deficiency. (24351968)
2013
2
Relevant bleeding diathesis due to acquired factor XIII deficiency. (24169946)
2013
3
Congenital factor XIII deficiency in Pakistan: characterization of seven families and identification of four novel mutations. (24329762)
2013
4
Congenital factor XIII deficiency in women: a systematic review of literature. (23992439)
2013
5
Factor XIII deficiency: an update. (23929307)
2013
6
Acquired factor XIII deficiency: a therapeutic challenge. (23306660)
2013
7
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
8
Acute Abdomen in a Young Girl with Factor XIII Deficiency Perianesthetic Issues. (23543997)
2012
9
Induction of hemodialysis therapy in a case with factor XIII deficiency. (21710188)
2011
10
As many as 12 cases with haemorrhagic acquired factor XIII deficiency due to its inhibitors were recently found in Japan. (21264450)
2011
11
Factor XIII deficiency related recurrent spontaneous intracerebral hemorrhage: a case and literature review. (20950938)
2011
12
Factor XIII deficiency as a potential cause of supratentorial haemorrhage after posterior fossa surgery. (19557304)
2010
13
Congenital factor XIII deficiency caused by two mutations in eight Tunisian families: molecular confirmation of a founder effect. (19937244)
2010
14
Acute and diffuse postoperative bleeding after free latissimus dorsi flap--Factor XIII deficiency: a case report and review of the literature. (19114970)
2009
15
Spontaneous splenic rupture in a patient with factor XIII deficiency and a novel mutation. (16456856)
2008
16
Corpus luteal hemorrhage: an unusual manifestation of congenital factor XIII deficiency. (18397286)
2008
17
International registry on factor XIII deficiency: a basis formed mostly on European data. (17549292)
2007
18
Safety and pharmacokinetics of recombinant factor XIII-A2 administration in patients with congenital factor XIII deficiency. (16556896)
2006
19
Factor XIII deficiency: a rare cause of repeated abortions. (15094990)
2004
20
Pattern of symptoms in 93 Iranian patients with severe factor XIII deficiency. (12911609)
2003
21
Prevalence of factor XIII deficiency in patients presenting with a bleeding disorder in Pakistan. (14675114)
2003
22
Surgery in severe factor XIII deficiency: report of a case of epilepsy neurosurgery and review. (12558790)
2003
23
Delayed umbilical bleeding--a presenting feature for factor XIII deficiency: clinical features, genetics, and management. (11826242)
2002
24
Unusual presentation of factor XIII deficiency. (12199683)
2002
25
Truncated mutant B subunit for factor XIII causes its deficiency due to impaired intracellular transportation. (11313256)
2001
26
Factor concentrates for the treatment of factor XIII deficiency. (9814641)
1998
27
Identification of a large deletion, spanning exons 4 to 11 of the human factor XIIIA gene, in a factor XIII-deficient family. (9414279)
1998
28
Congenital factor XIII deficiency: a patient report and review of the literature. (9007348)
1997
29
Type I factor XIII deficiency is caused by a genetic defect of its b subunit: insertion of triplet AAC in exon III leads to premature termination in the second Sushi domain. (8639893)
1996
30
Claw toes correction and factor XIII deficiency--a case report. (8668067)
1995
31
Factor XIII ABristol 1: detection of a nonsense mutation (Arg171-->stop codon) in factor XIII A subunit deficiency. (7918041)
1993
32
Hereditary factor XIII deficiency. (8253495)
1993
33
Deficiency of coagulation factor XIII A subunit caused by the dinucleotide deletion at the 5' end of exon III. (1644910)
1992
34
Congenital factor XIII deficiency. A family report. (1816054)
1991
35
Congenital factor XIII deficiency: two case reports. (1938825)
1991
36
Congenital factor XIII deficiency: a case report and review of literature. (2687169)
1989
37
Glanzmann's thrombasthenia associated with a transient deficiency of factor XIII. (2588958)
1989
38
Arthropathy associated with factor XIII deficiency. (3718569)
1986
39
A case of congenital factor XIII deficiency. (2581864)
1985
40
Differential binding of plasminogen to crosslinked and noncrosslinked fibrins: its significance in hemostatic defect in factor XIII deficiency. (6232970)
1984
41
Factor XIII levels in five families of patients with inherited factor XIII deficiency: support for an autosomal recessive inheritance. (6636036)
1983
42
A case of factor XIII deficiency in an adult male. (7130118)
1982
43
Congenital factor XIII deficiency. (7320002)
1981
44
A specific, fluorescent activity staining procedure applied to plasma and red blood cells in congenital factor XIII deficiency. (6155132)
1980
45
Factor XIII deficiency. (6103467)
1980
46
Factor XIII deficiency. A family study by measurement of factor XIII subunits A and S. (118616)
1979
47
Subunits A and S inheritance in four families with congenital factor XIII deficiency. (638074)
1978
48
Platelet aggregation in congenital factor XIII deficiency. (826089)
1976
49
Documentation of the plasma factor XIII deficiency in man. (4508922)
1972
50
Factor XIII deficiency. A rare haemorrhagic disease. (5288877)
1971

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

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

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:0310938.6F5, F13A1, SERPINF2
2extracellular spaceGO:0056158.0SERPINF2, F3, F5, F2
3extracellular regionGO:0055767.4SERPINF2, F5, F13B, F13A1, F2

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