MCID: FCT005
MIFTS: 44

Factor Xiii Deficiency malady

Summaries for Factor Xiii Deficiency

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 factor x 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 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 liver, brain and kidney, and related mouse phenotype homeostasis/metabolism.

Description from OMIM:47 613235,613225

Aliases & Classifications for Factor Xiii Deficiency

Sources:
8Disease Ontology, 43NIH Rare Diseases, 61UMLS, 35MeSH, 57SNOMED-CT, 47OMIM
See all sources

Aliases & Descriptions:

factor xiii deficiency 8 43 61
hereditary factor xiii deficiency disease 8
fibrin stabilizing factor deficiency 43
congenital factor xiii deficiency 43
deficiency, laki-lorand factor 8
factor xiii deficiency disease 8


External Ids:

Disease Ontology8 DOID:2211
MeSH35 D005177
SNOMED-CT57 18604004, 50189006

Related Diseases for Factor Xiii Deficiency

Sources:
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 87)
idRelated DiseaseScoreTop Affiliating Genes
1factor xii deficiency31.9F3, F5
2factor x deficiency31.9F2, F3, F5
3factor xi deficiency31.9F5, F3, F2
4factor v deficiency30.7F5, F3, F2
5acute myocardial infarction30.2F3, SERPINF2
6factor vii deficiency30.2F5, F3, F2
7hemorrhage, intracerebral30.2F13A1, F3, SERPINF2
8factor xiiia deficiency10.5
9factor xiii subunit a deficiency10.5
10factor xiiib deficiency10.4
11arthritis10.3
12factor xiii subunit b deficiency10.3
13henoch-schoenlein purpura10.1
14polycystic kidney disease10.1
15n syndrome10.1
16arthropathy10.1
17b cell deficiency10.1
18cardiac rupture10.1
19chronic myelomonocytic leukemia10.1
20cryofibrinogenemia10.1
21factor 2 deficiency10.1
22factor xi deficiency, autosomal recessive10.1
23cerebrovascular disease10.0F13A1
24purpura fulminans10.0F5
25rheumatoid arthritis10.0F13A1
26patent foramen ovale10.0F5
27retinal vein occlusion10.0F5
28varicose veins10.0F2
29ovarian hyperstimulation syndrome10.0F5
30hellp syndrome10.0F5
31sagittal sinus thrombosis10.0F5
32hepatitis a10.0F2
33hemangioma10.0F13A1
34hepatitis10.0F2
35hepatitis b10.0F2
36homocysteinemia10.0F5
37peritonitis10.0F2
38viral hepatitis10.0F2
39central retinal vein occlusion10.0F5
40respiratory failure10.0F3
41cholestasis10.0F2
42coronary thrombosis10.0F3
43nephrotic syndrome10.0SERPINF2
44coronary heart disease10.0SERPINF2
45schistosomiasis10.0SERPINF2
46protein c deficiency10.0F2, F5
47portal vein thrombosis10.0F5, F2
48hemarthrosis10.0F13B, F3
49stroke, ischemic10.0F5, F2
50hepatitis c10.0F2

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



Diseases related to factor xiii deficiency

Clinical Features for Factor Xiii Deficiency

Sources:
47OMIM
See all sources

Clinical features from OMIM:

613235,613225

Drugs & Therapeutics for Factor Xiii Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Factor Xiii Deficiency

Drug clinical trials:

Search ClinicalTrials for Factor Xiii Deficiency

Search NIH Clinical Center for Factor Xiii Deficiency

Search CenterWatch for Factor Xiii Deficiency

Genetic Tests for Factor Xiii Deficiency

Anatomical Context for Factor Xiii Deficiency

Sources:
33MalaCards
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MalaCards organs/tissues related to Factor Xiii Deficiency:

33
Liver, Brain, Kidney, Spleen, Breast, Placenta, Myeloid, B cells

Animal Models for Factor Xiii Deficiency or affiliated genes

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

MGI Mouse Phenotypes related to Factor Xiii Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.6SERPINF2, F2, F3, F13A1, F5

Publications for Factor Xiii Deficiency

Sources:
51PubMed
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Articles related to Factor Xiii 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 Xiii Deficiency

Expression for genes affiliated with Factor Xiii Deficiency

Sources:
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

Sources:
12EMD Millipore, 54Reactome, 50PharmGKB, 52QIAGEN, 30KEGG, 38NCBI BioSystems Database, 53R&D Systems
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Compounds for genes affiliated with Factor Xiii Deficiency

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 50PharmGKB, 60Tocris 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
1heparin45 29 11 2413.5F13A1
2coumarins4510.3F3
3brodifacoum4510.2F3
4aprosulate4510.2F3
5monoethylglycinexylidide4510.2F5
6hirugen459.7F5, F2
7napsagatran459.7F2, F3
8hemochron459.7F3, F2
9certoparin459.6F3, F2
10appt459.6F3, F2
11batroxobin459.6F5, F2
12heparin sodium459.6F2, F3
13dextran 70459.6F3, F2
14polybrene459.6F2, F3
15s-warfarin459.6F3, F2
16ancrod459.5F5, F2
17hepaplastin459.5F3, F2
18organon459.4F3, F2
19rivaroxaban45 1110.3F3, F2
20fibrinopeptide a459.3F2, SERPINF2
21inogatran459.3F5, F3, F2
22ecarin459.2F2, F3, F5
23spectrozyme459.2F5, F3, F2
24danaparoid459.2F2, F3, F5
25kaolin459.2F5, F3, F2
26ximelagatran45 1110.2F5, F3, F2
27fondaparinux459.2F5, F3, F2
28acenocoumarol45 50 1111.2F5, F3, F2
29bivalirudin45 1110.2F5, F3, F2
30argatroban45 1110.2F2, F3, F5
31protamine sulfate459.2F5, F3, F2
32gamma-carboxyglutamic acid459.2F5, F3, F2
33levonorgestrel45 60 29 1112.2F2, F3, F5
34coumarin45 2 50 2412.2F5, F3, F2
35cardiolipin45 1110.2F2, F3, F5
36protamine459.1F5, F3, F2
37dermatan sulfate459.1F2, F3, F5
38vitamin k145 2410.0F2, F3
39aprotinin45 119.9SERPINF2, F3, F5
40epsilon aminocaproic acid458.9SERPINF2, F2, F3
41heparinoids458.9F2, F3, F13A1, F5
42aspirin45 50 29 2411.8F2, F3, F13A1, F5
43urea45 11 2410.7SERPINF2, F13A1, F5
44homocysteine45 249.7F5, F3, F2
45ristocetin458.4F5, F3, F2, SERPINF2
46desmopressin45 60 29 1111.4SERPINF2, F2, F3, F5
47hirudin458.4SERPINF2, F2, F3, F5
48epinephrine45 11 2410.3F5, F3, F2, SERPINF2
49kininogen458.0F5, F13A1, F3, F2, SERPINF2
50fibrinogen458.0SERPINF2, F2, F3, F13A1, F5

GO Terms for genes affiliated with Factor Xiii Deficiency

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Factor Xiii 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