MCID: FCT005
MIFTS: 44

Factor Xiii Deficiency malady

Rare diseases, Blood diseases categories

Summaries for Factor Xiii Deficiency

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NIH Rare Diseases:41 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 fibrin-stabilizing factor deficiency, is related to factor xiiia deficiency and von willebrand's disease. 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.

Wikipedia:63 Factor XIII deficiency occurs exceedingly rarely, causing a severe bleeding tendency. The incidence is... more...

Aliases & Classifications for Factor Xiii Deficiency

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 55SNOMED-CT, 33MeSH, 26ICD10 via Orphanet
See all sources

Factor Xiii Deficiency, Aliases & Descriptions:

Name: Factor Xiii Deficiency 9 41 11 43 60
Fibrin-Stabilizing Factor Deficiency 41 47
Congenital Factor Xiii Deficiency 41 47
Hereditary Factor Xiii Deficiency Disease 9
 
Fibrin Stabilizing Factor Deficiency 41
Deficiency, Laki-Lorand Factor 9
Factor Xiii Deficiency Disease 9


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
fibrin-stabilizing factor deficiency:
Inheritance: Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Europe); Age of onset: All ages


External Ids:

Disease Ontology9 DOID:2211
MeSH33 D005177
SNOMED-CT55 50189006, 18604004
Orphanet47 331
ICD10 via Orphanet26 D68.2

Related Diseases for Factor Xiii Deficiency

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Diseases related to Factor Xiii Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1factor xiiia deficiency31.3F13A1
2von willebrand's disease30.5F2, F3
3myocardial infarction29.9F13A1, SERPINF2, F5, F3
4acute myocardial infarction29.9F3, SERPINF2
5factor xiiib deficiency10.4
6varicose veins10.4F2
7sagittal sinus thrombosis10.4F5
8coronary thrombosis10.3F3
9homocysteinemia10.3F5
10rheumatoid arthritis10.3
11arthritis10.3
12glomerulonephritis10.3
13cerebritis10.3
14purpura10.3
15central retinal vein occlusion10.3F5
16hemarthrosis10.2F3, F13B
17hemophilia b10.2F2, F3
18child syndrome10.2
19chronic myelomonocytic leukemia10.2
20hepatitis10.2
21leukemia10.2
22hepatitis c10.2
23polycystic kidney disease10.2
24arthropathy10.2
25colitis10.2
26compartment syndrome10.2
27kidney disease10.2
28plasmacytoma10.2
29vaginitis10.2
30cardiac rupture10.2
31cryofibrinogenemia10.2
32vitamin k deficiency hemorrhagic disease10.2F3, F2
33factor xii deficiency10.2F3, F5
34factor viii deficiency10.2F3, F5
35hypoprothrombinemia10.1F2, F5
36blood protein disease10.1F2, F5
37intracranial thrombosis10.1F5, F3
38portal vein thrombosis10.1F2, F5
39thrombophilia due to antithrombin iii deficiency10.1F5, F2
40leukopenia10.1F3, F2
41scott syndrome10.1F5, F2
42placental abruption10.1F2, F5
43protein c deficiency10.1F2, F5
44connective tissue disease10.1F2, F3
45hyperhomocysteinemia10.0F5, F2
46primary hyperoxaluria10.0F3, F2
47stroke, ischemic10.0F2, F5
48dysfibrinogenemia10.0F5, F13A1, F2
49congenital heart disease10.0F3, F2
50factor x deficiency9.9F2, F3, F5

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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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:

31
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:

35
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 206)
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 &quot;model&quot; 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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Clinvar genetic disease variations for Factor Xiii Deficiency:

6 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1F13BF13B, 1-BP DEL, IVS1AS, A, -2deletionPathogenic
2F13BNM_001994.2(F13B): c.1349G> T (p.Cys450Phe)single nucleotide variantPathogenicrs121913075GRCh37Chr 1, 197024850: 197024850
3F13BF13B, 3-BP INS, AACinsertionPathogenic
4F13BF13B, 1-BP DEL, EX9deletionPathogenic
5F13A1F13A1, 2-BP DEL, 210AGdeletionPathogenic
6F13A1NM_000129.3(F13A1): c.2045G> A (p.Arg682His)single nucleotide variantPathogenicrs121913064GRCh37Chr 6, 6152046: 6152046
7F13A1NM_000129.3(F13A1): c.514C> T (p.Arg172Ter)single nucleotide variantPathogenicrs121913065GRCh37Chr 6, 6266848: 6266848
8F13A1NM_000129.3(F13A1): c.1326C> A (p.Tyr442Ter)single nucleotide variantPathogenicrs121913066GRCh37Chr 6, 6182354: 6182354
9F13A1NM_000129.3(F13A1): c.183C> A (p.Asn61Lys)single nucleotide variantPathogenicrs121913067GRCh37Chr 6, 6305720: 6305720
10F13A1NM_000129.3(F13A1): c.1504G> A (p.Gly502Arg)single nucleotide variantPathogenicrs121913068GRCh37Chr 6, 6175056: 6175056
11F13A1NM_000129.3(F13A1): c.1687G> A (p.Gly563Arg)single nucleotide variantPathogenicrs121913069GRCh37Chr 6, 6174873: 6174873
12F13A1NM_000129.3(F13A1): c.1243G> T (p.Val415Phe)single nucleotide variantPathogenicrs121913070GRCh37Chr 6, 6196092: 6196092
13F13A1NM_000129.3(F13A1): c.782G> A (p.Arg261His)single nucleotide variantPathogenicrs121913071GRCh37Chr 6, 6248561: 6248561
14F13A1NM_000129.3(F13A1): c.980G> A (p.Arg327Gln)single nucleotide variantPathogenicrs121913072GRCh37Chr 6, 6222398: 6222398
15F13A1NM_000129.3(F13A1): c.949G> T (p.Val317Phe)single nucleotide variantPathogenicrs121913073GRCh37Chr 6, 6224943: 6224943
16F13A1NM_000129.3(F13A1): c.851A> G (p.Tyr284Cys)single nucleotide variantPathogenicrs121913074GRCh37Chr 6, 6225041: 6225041
17F13A1F13A1, 1-BP INS, 1286CinsertionPathogenic
18F13A1F13A1, IVS5AS, G-A, -1single nucleotide variantPathogenic
19F13A1NM_000129.3(F13A1): c.2110C> T (p.Arg704Trp)single nucleotide variantPathogenicrs267606787GRCh37Chr 6, 6145941: 6145941
20F13A1NM_000129.3(F13A1): c.1984C> T (p.Arg662Ter)single nucleotide variantPathogenicrs267606789GRCh37Chr 6, 6152107: 6152107
21F13A1NM_000129.3(F13A1): c.728T> C (p.Met243Thr)single nucleotide variantPathogenicrs267606788GRCh37Chr 6, 6248615: 6248615
22F13A1F13A1, 4-BP DEL, 602AAAGdeletionPathogenic
23F13A1NM_000129.3(F13A1): c.-19+12A=single nucleotide variantPathogenicrs2815822GRCh37Chr 6, 6320808: 6320808

Expression for genes affiliated with Factor Xiii Deficiency

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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 Suite gene sharing:

(show top 50)    (show all 90)
idCompoundScoreTop Affiliating Genes
1mnpt439.8F3, F2
2brodifacoum439.8F3, F2
3aprosulate439.8F2, F3
4napsagatran439.8F3, F2
5appt439.7F3, F2
6certoparin439.7F3, F2
7hemochron439.7F2, F3
8heparin sodium439.7F2, F3
9dextran 70439.7F3, F2
10polybrene439.7F2, F3
11hirugen439.6F5, F2
12s-warfarin439.6F3, F2
13batroxobin439.5F2, F5
14hepaplastin439.4F2, F3
15rivaroxaban43 1210.4F3, F2
16monoethylglycinexylidide439.4F5, F2
17organon439.3F3, F2
18inogatran439.3F5, F2, F3
19ecarin439.2F3, F5, F2
20spectrozyme439.2F3, F2, F5
21fibrinopeptide a439.2SERPINF2, F2
22danaparoid439.2F3, F2, F5
23kaolin439.2F3, F2, F5
24ximelagatran43 1210.2F2, F5, F3
25fondaparinux439.2F3, F2, F5
26acenocoumarol43 49 1211.2F2, F3, F5
27bivalirudin43 1210.2F2, F3, F5
28coumarins439.2F5, F2, F3
29argatroban43 1210.2F3, F5, F2
30protamine sulfate439.2F5, F3, F2
31gamma-carboxyglutamic acid439.2F5, F3, F2
32levonorgestrel43 59 28 1212.2F2, F3, F5
33coumarin43 2 49 2412.2F2, F3, F5
34cardiolipin43 1210.2F5, F3, F2
35protamine439.1F2, F3, F5
36dermatan sulfate439.1F5, F2, F3
37warfarin43 49 24 1212.1F2, F3, F5
38ancrod439.0F2, F5
39homocysteine43 2410.0F2, F3, F5
40epsilon aminocaproic acid439.0SERPINF2, F2, F3
41heparinoids438.9F3, F5, F2, F13A1
42aspirin43 49 28 2411.8F5, F3, F13A1, F2
43ristocetin438.4SERPINF2, F3, F2, F5
44desmopressin43 59 28 1211.4F3, F5, F2, SERPINF2
45hirudin438.4F5, F2, SERPINF2, F3
46aprotinin43 129.4F2, F3, F5, SERPINF2
47epinephrine43 24 1210.4F2, SERPINF2, F5, F3
48kininogen438.0F2, F13A1, SERPINF2, F3, F5
49fibrinogen438.0F5, F3, SERPINF2, F13A1, F2
50heparin43 28 24 1211.0F5, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310938.6F5, SERPINF2, F13A1
2blood microparticleGO:00725628.4SERPINF2, F13A1, F2
3extracellular spaceGO:00056158.0F5, F3, SERPINF2, F2
4extracellular regionGO:00055767.5F2, F13A1, F13B, SERPINF2, F5

Biological processes related to Factor Xiii Deficiency according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of fibrinolysisGO:00519189.1SERPINF2, F2
2acute-phase responseGO:00069539.1SERPINF2, F2
3fibrinolysisGO:00427309.0SERPINF2, F2
4positive regulation of collagen biosynthetic processGO:00329678.8SERPINF2, F2
5platelet degranulationGO:00025768.7F13A1, SERPINF2, F5
6platelet activationGO:00301688.2F5, SERPINF2, F13A1, F2
7blood coagulationGO:00075967.3F5, F2, F13A1, F13B, SERPINF2, F3

Molecular functions related to Factor Xiii Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protease bindingGO:00020209.1F3, SERPINF2

Products for genes affiliated with Factor Xiii Deficiency

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Sources for Factor Xiii Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet