MCID: FCT005
MIFTS: 42

Factor Xiii Deficiency malady

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Factor Xiii Deficiency

About this section

Aliases & Descriptions for Factor Xiii Deficiency:

Name: Factor Xiii Deficiency 11 46 24 13 48 37 66
Fibrin Stabilizing Factor Deficiency 46 24
Congenital Factor Xiii Deficiency 46 52
Deficiency, Laki-Lorand Factor 11 24
 
Hereditary Factor Xiii Deficiency Disease 11
Fibrin-Stabilizing Factor Deficiency 52
Factor Xiii Deficiency Disease 11
Deficiency of Factor Xiii 24

Characteristics:

Orphanet epidemiological data:

52
congenital factor xiii deficiency:
Inheritance: Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Europe); Age of onset: All ages; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology11 DOID:2211
MeSH37 D005177
NCIt43 C98941
SNOMED-CT60 18604004, 50189006
Orphanet52 ORPHA331
ICD10 via Orphanet29 D68.2

Summaries for Factor Xiii Deficiency

About this section
NIH Rare Diseases:46 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 myocardial infarction and rasa1-related disorders. An important gene associated with Factor Xiii Deficiency is F13A1 (Coagulation Factor XIII A Chain), and among its related pathways are Dissolution of Fibrin Clot and Collagen biosynthesis and modifying enzymes. Affiliated tissues include liver, brain and myeloid, and related mouse phenotype homeostasis/metabolism.

Genetics Home Reference:24 Factor XIII deficiency is a rare bleeding disorder. Researchers have identified an inherited form and a less severe form that is acquired during a person's lifetime.

Wikipedia:69 Factor XIII deficiency occurs exceedingly rarely, causing a severe bleeding tendency. The incidence is... more...

Related Diseases for Factor Xiii Deficiency

About this section

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

(show top 50)    (show all 136)
idRelated DiseaseScoreTop Affiliating Genes
1myocardial infarction27.1F13A1, F2, F3, F8, SERPINE1, SERPINF2
2rasa1-related disorders10.5F13A1, F2
3split-hand/foot malformation 1 with sensorineural hearing loss10.4SERPINE1, SERPINF2
4factor xiiib deficiency10.3
5factor xiiia deficiency10.3
6milk allergy10.3F2, SERPINF2
7penis papillary carcinoma10.3F13A1, F8
8monocytic leukemia10.3SERPINE1, SERPINF2
9acute cor pulmonale10.3SERPINE1, SERPINF2
10unicentric castleman disease10.3F2, SERPINE1
11collagenous colitis10.3F2, SERPINE1
12peripheral focal chorioretinitis10.3F13A1, F8
13hypertensive heart disease10.3F2, SERPINE1
14posterolateral myocardial infarction10.2F2, SERPINE1
15elejalde disease10.2F2, SERPINE1
16selective iga deficiency disease10.2F2, SERPINE1
17venezuelan hemorrhagic fever10.2F8, SERPINE1
18bone resorption disease10.2F2, SERPINE1
19sacrococcygeal teratoma10.2F2, SERPINE1
20psychosexual disorder10.2F2, SERPINE1
21diabetic autonomic neuropathy10.2F2, F8
22tympanosclerosis10.1F2, F8
23ischemic heart disease10.1F2, SERPINE1
24c1 inhibitor deficiency10.1F2, SERPINE1
25penile disease10.1F8, SERPINF2
26exophthalmic ophthalmoplegia10.1F2, SERPINE1
27van maldergem syndrome 210.1F2, F8
28alcohol abuse10.0F2, SERPINE1
29chronic diarrhea due to guanylate cyclase 2c overactivity10.0F3, SERPINF2
30ovarian insufficiency, familial10.0F2, SERPINE1
31familial glomangioma10.0F2, F3
32myiasis10.0F2, F3
33ovarian gonadoblastoma10.0F2, F3
34cerebral angioma10.0F2, F3
35classic congenital lipoid adrenal hyperplasia due to star deficency10.0F2, F3
36dislocation of ear ossicle10.0F2, F3
37brill-zinsser disease10.0F2, F3
38photokeratitis10.0F13A1, F2
39epididymo-orchitis10.0F2, F3
40chorea gravidarum10.0F2, F3
41central nervous system germinoma10.0F2, F3
42congenital nystagmus10.0F2, F3
43peroneal neuropathy10.0F2, F3
44shwachman-diamond type metaphyseal dysplasia10.0F3, SERPINE1
45jumping frenchmen of maine10.0F2, SERPINE1
46catatrichy10.0F3, SERPINE1
47transient cerebral ischemia9.9F2, F3
48splenic infarction9.9F2, F3
49cercarial dermatitis9.9F2, F3
50pneumocystosis9.9F3, SERPINE1

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



Diseases related to factor xiii deficiency

Symptoms for Factor Xiii Deficiency

About this section

Drugs & Therapeutics for Factor Xiii Deficiency

About this section

Drugs for Factor Xiii Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BenzocainePhase 317941994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
23239-88-5
23239-88-5 (hydrochloride)
4 Aminobenzoic Acid Ethyl Ester
4-(Ethoxycarbonyl)aniline
4-(Ethoxycarbonyl)phenylamine
4-14-00-01129 (Beilstein Handbook Reference)
4-Aminobenzoate
4-Aminobenzoic acid
4-Aminobenzoic acid ethyl ester
4-Aminobenzoic acid, ethyl ester
4-Carbethoxyaniline
4-amino-benzoic acid ethyl ester
4-aminobenzoic acid ethyl ester
71123-91-6
94-09-7
94-09-7 (Parent)
A0271
AB00051923
AC1L1DGC
AC1Q341A
AC1Q64JE
AE-562/40377256
AI3-02081
AKOS000119763
AR-1H9065
Acetate, Benzocaine
Aethoform
Aethylium paraminobenzoicum
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthone
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Bensokain
Benzoak
Benzocaina
Benzocaina [INN-Spanish]
Benzocaine
Benzocaine (USP/INN)
Benzocaine Acetate
Benzocaine Formate
Benzocaine Hydrobromide
Benzocaine Hydrochloride
Benzocaine Methanesulfonate
Benzocaine [INN:BAN]
Benzocainum
Benzocainum [INN-Latin]
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Caswell No. 430A
Chloraseptic
D001566
D00552
DB01086
Dermoplast
Diet Ayds
DivK1c_000932
E1501_SIGMA
EINECS 202-303-5
EPA Pesticide Chemical Code 097001
ETHYL-P-AMINOBENZOATE
Ethoform
Ethoforme
Ethyl 4-aminobenzoate
Ethyl 4-aminobenzoate hydrochloride
Ethyl 4-aminobenzoic acid
Ethyl Aminobenzoate
Ethyl PABA
 
Ethyl aminobenzoate
Ethyl aminobenzoate (JP15)
Ethyl aminobenzoate (VAN)
Ethyl aminobenzoic acid
Ethyl p-Aminobenzoate
Ethyl p-Aminophenylcarboxylate
Ethyl p-aminobenzenecarboxylate
Ethyl p-aminobenzoate
Ethyl p-aminobenzoic acid
Ethyl p-aminophenylcarboxylate
Ethylester kyseliny p-aminobenzoove
Ethylester kyseliny p-aminobenzoove [Czech]
Ethylis aminobenzoas
Formate, Benzocaine
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Hurricaine
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Keloform
LS-35847
MLS001331704
MLS002153970
Methanesulfonate, Benzocaine
MolPort-000-871-526
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Norcain
Norcaine
Norcainum
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orthesin
Otocain
Outgro
Parathesin
Parathesin (TN)
Parathesine
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Topcaine
UNII-U3RSY48JW5
WLN: ZR DVO2
ZINC12358719
benzocaine
ethylaminobenzoate-4
h-4-abz-oet
nchembio.182-comp4
p-(Ethoxycarbonyl)aniline
p-Aminobenzoate
p-Aminobenzoic acid
p-Aminobenzoic acid ethyl ester
p-Aminobenzoic acid, ethyl ester
p-Aminobenzoic ethyl ester
p-Carbethoxyaniline
p-Ethoxycarboxylic Aniline
p-Ethoxycarboxylic aniline
2
FibrinolysinPhase 3, Phase 2329004-09-5
Synonyms:
Bovine Fibrinolysin
 
Bovine Plasmin
Plasmin
3tannic acidNutraceuticalPhase 31794

Interventional clinical trials:

(show all 17)
idNameStatusNCT IDPhase
1A Study of Factor XIII Concentrate in Subjects With Congenital Factor XIII DeficiencyCompletedNCT00885742Phase 3
2An Open Enrollment Study of Factor XIII Concentrate in Subjects With Congenital Factor XIII DeficiencyCompletedNCT00945906Phase 3
3Safety of Monthly Recombinant Factor XIII Replacement Therapy in Subjects With Congenital Factor XIII Deficiency: An Extension to Trial F13CD-1725CompletedNCT00978380Phase 3
4Evaluation of Recombinant Factor XIII for Prevention of Bleeding in Patients With FXIII Inherited DeficiencyCompletedNCT00713648Phase 3
5Safety and Efficacy of Monthly Replacement Therapy With Recombinant Factor XIII (rFXIII) in Paediatric Subjects With Congenital Factor XIII A-subunit DeficiencyCompletedNCT01253811Phase 3
6Safety of a Single Intravenous Dose of Recombinant Factor XIII in Children With Congenital FXIII A-subunit DeficiencyCompletedNCT01230021Phase 3
7A Study of the Use of Factor XIII Concentrate in Patients With Inherited FXIII DeficiencyCompletedNCT00883090Phase 2
8Safety and Pharmacokinetics of Recombinant Factor XIII in Patients With Congenital Factor Xlll DeficiencyCompletedNCT00056589Phase 1
9Comparison of a Blood Clotting Drug (Recombinant Factor XIII) Produced by Two Different Manufacturers in Healthy Male SubjectsCompletedNCT01082406Phase 1
10Safety and Pharmacokinetics of Recombinant Factor XIII in Healthy VolunteersCompletedNCT01847989Phase 1
11Safety and Pharmacokinetics of Recombinant Factor XIII Administration in Healthy VolunteersCompletedNCT01848002Phase 1
12Clinical Trial of Factor XIII (FXIII) ConcentrateCompletedNCT00640289
13Evaluation of Clot Stability Induced by Solulin: Evaluation of New Solulin Mutants Lacking Protein C Activation CapacityCompletedNCT02911233
14Factor XIII and Pulmonary Embolism in Neurosurgical PatientsRecruitingNCT01106937
15Wound Healing Abnormalities in Major Abdominal SurgeryRecruitingNCT00735579
16A Study of Safety and Effectiveness of NovoThirteen® (rFXIII) During Treatment of Congenital FXIII Deficiency in JapanRecruitingNCT02670213
17Use of rFXIII in Treatment of Congenital FXIII Deficiency, a Prospective Multi-centre Observational StudyEnrolling by invitationNCT01862367

Search NIH Clinical Center for Factor Xiii Deficiency


Cochrane evidence based reviews: factor xiii deficiency

Genetic Tests for Factor Xiii Deficiency

About this section

Anatomical Context for Factor Xiii Deficiency

About this section

MalaCards organs/tissues related to Factor Xiii Deficiency:

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

Animal Models for Factor Xiii Deficiency or affiliated genes

About this section

MGI Mouse Phenotypes related to Factor Xiii Deficiency:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053766.4CPB2, F13A1, F13B, F2, F3, F8

Publications for Factor Xiii Deficiency

About this section

Articles related to Factor Xiii Deficiency:

(show top 50)    (show all 230)
idTitleAuthorsYear
1
Laboratory Diagnosis of Factor XIII Deficiency, Routine Coagulation Tests with Quantitative and Qualitative Methods. (27215067)
2016
2
Long Term Follow up Study on a Large Group of Patients with Congenital Factor XIII Deficiency Treated Prophylactically with Fibrogammin PAr. (27642336)
2016
3
Morbidity and mortality in a large number of Iranian patients with severe congenital factor XIII deficiency. (26692088)
2016
4
Rotational thromboelastometry can detect factor XIII deficiency and bleeding diathesis in patients with liver cirrhosis. (27634287)
2016
5
Effect of Social Factors on the Highest Global Incidence of Congenital Factor XIII Deficiency in Southeast of Iran. (26155604)
2015
6
Fibrinogen but not factor XIII deficiency is associated with bleeding after craniotomy. (24871873)
2014
7
Novel and recurrent mutations in the F13A1 gene in unrelated Korean patients with congenital factor XIII deficiency. (25004025)
2014
8
Diagnosis and management of severe congenital factor XIII deficiency in the Emergency Department: lessons from a &quot;model&quot; family. (25369590)
2014
9
Factor XIII deficiency management: a review of the literature. (24401950)
2014
10
A child with acquired factor XIII deficiency: case report and literature review. (23607876)
2013
11
Acute abdomen in a young girl with factor XIII deficiency: Perianesthetic issues. (23495278)
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
Successful long-term replacement therapy with FXIII concentrate (Fibrogammin(Ar) P) for severe congenital factor XIII deficiency: a prospective multicentre study. (21481176)
2011
15
Induction of hemodialysis therapy in a case with factor XIII deficiency. (21710188)
2011
16
Novel aspects of factor XIII deficiency. (21738029)
2011
17
Factor XIII Deficiency in Siblings: Importance of Prophylactic Replacement. (22942571)
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
Congenital factor XIII deficiency caused by two mutations in eight Tunisian families: molecular confirmation of a founder effect. (19937244)
2010
21
Spontaneous regression of the inhibitor against the coagulation factor XIII A subunit in acquired factor XIII deficiency. (20941461)
2010
22
Subgaleal hematoma presenting as a manifestation of Factor XIII deficiency. (19255750)
2009
23
Acute and diffuse postoperative bleeding after free latissimus dorsi flap--Factor XIII deficiency: a case report and review of the literature. (19114970)
2009
24
Factor XIII deficiency: a differential diagnosis to be considered in suspected nonaccidental injury presenting with intracranial hemorrhage. (18057145)
2008
25
An unusual clinical presentation of factor XIII deficiency and issues relating to the monitoring of factor XIII replacement therapy. (18600098)
2008
26
Congenital blood coagulation factor XIII deficiency and successful deliveries: a review of the literature. (17371605)
2007
27
Safety and pharmacokinetics of recombinant factor XIII-A2 administration in patients with congenital factor XIII deficiency. (16556896)
2006
28
Prophylactic and perioperative replacement therapy for acquired factor XIII deficiency: reply to a rebuttal. (15634290)
2005
29
Factor XIII deficiency: new nonsense and deletion mutations in the human factor XIIIA gene. (16330458)
2005
30
Factor XIII deficiency in south-east Iran. (15357772)
2004
31
Seven novel mutations in the factor XIII A-subunit gene causing hereditary factor XIII deficiency in 10 unrelated families. (15456491)
2004
32
Prophylactic and perioperative replacement therapy for acquired factor XIII deficiency. (15140148)
2004
33
Identification of a new Leu354Pro mutation responsible for factor XIII deficiency. (11168522)
2001
34
Bleeding risk and reproductive capacity among patients with factor XIII deficiency: a case presentation and review of the literature. (10674253)
2000
35
Arg260-Cys mutation in severe factor XIII deficiency: conformational change of the A subunit is predicted by molecular modelling and mechanics. (9609521)
1998
36
Factor concentrates for the treatment of factor XIII deficiency. (9814641)
1998
37
ETRO Working Party on Factor XIII questionnaire on congenital factor XIII deficiency in Europe: status and perspectives. Study Group. (8989825)
1996
38
Factor XIII-deficiency in the blood of venous leg ulcer patients. (1676216)
1991
39
Congenital factor XIII deficiency with multiple benign breast tumours and successful pregnancy with substitutive therapy. A case report. (2620871)
1989
40
Congenital factor XIII deficiency: a case report and review of literature. (2687169)
1989
41
Type I and type II disease in congenital factor XIII deficiency. A further demonstration of the correctness of the classification. (3779113)
1986
42
Congenital factor XIII deficiency: type I and type II disease. (4005184)
1985
43
Factor XIII levels in five families of patients with inherited factor XIII deficiency: support for an autosomal recessive inheritance. (6636036)
1983
44
A case of factor XIII deficiency in an adult male. (7130118)
1982
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
A tentative classification of factor XIII deficiency in two groups. (413309)
1977
48
Factor XIII deficiency in BALB/c mice with plasmacytoma. (908006)
1977
49
Blood factor XIII deficiency: review of literature and report of case. (4935503)
1971
50
Factor XIII deficiency. Treatment with monthly plasma infusions. (5819238)
1969

Variations for Factor Xiii Deficiency

About this section

Expression for genes affiliated with Factor Xiii Deficiency

About this section
Search GEO for disease gene expression data for Factor Xiii Deficiency.

Pathways for genes affiliated with Factor Xiii Deficiency

About this section

GO Terms for genes affiliated with Factor Xiii Deficiency

About this section

Cellular components related to Factor Xiii Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:00725629.3F13A1, F2, SERPINF2
2platelet alpha granule lumenGO:00310939.1F13A1, F8, SERPINE1, SERPINF2
3extracellular matrixGO:00310128.8F2, F3, SERPINE1
4extracellular regionGO:00055767.3F13A1, F13B, F2, F8, SERPINE1, SERPINF2
5extracellular spaceGO:00056157.1CPB2, F2, F3, F8, SERPINE1, SERPINF2

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1blood coagulation, intrinsic pathwayGO:00075979.8F2, F8
2positive regulation of collagen biosynthetic processGO:00329679.7F2, SERPINF2
3positive regulation of blood coagulationGO:00301949.5F2, SERPINE1
4negative regulation of plasminogen activationGO:00107579.4CPB2, SERPINE1, SERPINF2
5acute-phase responseGO:00069539.1F2, F8, SERPINF2
6fibrinolysisGO:00427308.9CPB2, F2, SERPINE1, SERPINF2
7negative regulation of fibrinolysisGO:00519188.9CPB2, F2, SERPINE1, SERPINF2
8platelet degranulationGO:00025768.7F13A1, F8, SERPINE1, SERPINF2
9blood coagulationGO:00075967.4CPB2, F13A1, F13B, F2, F3, F8

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

idNameGO IDScoreTop Affiliating Genes
1protease bindingGO:00020208.7F3, SERPINE1, SERPINF2
2serine-type endopeptidase activityGO:00042528.2F2, F3, F8

Sources for Factor Xiii Deficiency

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet