MCID: FCT005
MIFTS: 45

Factor Xiii Deficiency

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Factor Xiii Deficiency

MalaCards integrated aliases for Factor Xiii Deficiency:

Name: Factor Xiii Deficiency 12 76 53 25 37 55 44 15 73
Fibrin Stabilizing Factor Deficiency 53 25
Congenital Factor Xiii Deficiency 53 59
Deficiency, Laki-Lorand Factor 12 25
Hereditary Factor Xiii Deficiency Disease 12
Fibrin-Stabilizing Factor Deficiency 59
Factor Xiii Deficiency Disease 12
Deficiency of Factor Xiii 25
Deficiency, Factor Xiii 40

Characteristics:

Orphanet epidemiological data:

59
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 Ontology 12 DOID:2211
MeSH 44 D005177
NCIt 50 C98941
SNOMED-CT 68 18604004 50189006
Orphanet 59 ORPHA331
ICD10 via Orphanet 34 D68.2
UMLS via Orphanet 74 C0015530
KEGG 37 H00945
UMLS 73 C0015530

Summaries for Factor Xiii Deficiency

NIH Rare Diseases : 53 Factor XIII deficiency is an extremely rare inheritedblood 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.

MalaCards based summary : Factor Xiii Deficiency, also known as fibrin stabilizing factor deficiency, is related to thrombasthenia and acute myocardial infarction. An important gene associated with Factor Xiii Deficiency is F13A1 (Coagulation Factor XIII A Chain), and among its related pathways/superpathways are Complement and coagulation cascades and Response to elevated platelet cytosolic Ca2+. The drugs Benzocaine and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and myeloid, and related phenotype is homeostasis/metabolism.

Genetics Home Reference : 25 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 : 76 Factor XIII deficiency occurs exceedingly rarely, causing a severe bleeding tendency. The incidence is... more...

Related Diseases for Factor Xiii Deficiency

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

(show top 50) (show all 120)
# Related Disease Score Top Affiliating Genes
1 thrombasthenia 29.2 F3 F5
2 acute myocardial infarction 28.6 F3 SERPINE1 SERPINF2
3 von willebrand's disease 28.6 F3 F5 F8
4 thrombosis 28.0 F13A1 F3 F5 SERPINE1
5 disseminated intravascular coagulation 27.8 F3 F5 SERPINE1 SERPINF2
6 myocardial infarction 26.3 F13A1 F3 F5 F8 SERPINE1 SERPINF2
7 factor xiii, a subunit, deficiency of 11.3
8 factor xiii, b subunit, deficiency of 11.3
9 priapism 10.4 F13A1 F5
10 plasminogen activator inhibitor-1 deficiency 10.3 SERPINE1 SERPINF2
11 dysfibrinogenemia 10.3 F13A1 F5
12 hemarthrosis 10.3 F13A1 F8
13 acute cor pulmonale 10.3 SERPINE1 SERPINF2
14 inferior vena cava interruption 10.3 F5 SERPINE1
15 amaurosis fugax 10.3 F5 SERPINE1
16 acute pulmonary heart disease 10.3 SERPINE1 SERPINF2
17 livedoid vasculopathy 10.3 F5 SERPINE1
18 sticky platelet syndrome 10.3 F5 SERPINE1
19 cryptogenic cirrhosis 10.2 F5 SERPINE1
20 indeterminate leprosy 10.2 F13A1 F8
21 meningococcemia 10.2 F5 SERPINE1
22 quebec platelet disorder 10.2 F5 SERPINE1
23 legg-calve-perthes disease 10.1 F5 SERPINE1
24 portal vein thrombosis 10.1 F5 SERPINE1
25 factor v and factor viii, combined deficiency of, 2 10.1 F5 F8
26 type i 10.1
27 factor viii deficiency 10.1 F5 F8
28 carotid artery occlusion 10.1 F5 F8
29 nodular nonsuppurative panniculitis 10.0 F8 SERPINF2
30 retinal vein occlusion 10.0 F5 SERPINE1
31 intestinal impaction 10.0 F3 SERPINF2
32 giant hemangioma 10.0 F3 SERPINF2
33 cerebritis 10.0
34 intracranial embolism 10.0 F3 SERPINF2
35 marantic endocarditis 9.9 F3 SERPINF2
36 purpura fulminans 9.9 F3 SERPINF2
37 korean hemorrhagic fever 9.9 F3 SERPINF2
38 cerebral sinovenous thrombosis 9.9 F3 F5
39 sagittal sinus thrombosis 9.9 F3 F5
40 factor xi deficiency 9.9 CPB2 F3
41 blue toe syndrome 9.9 F3 SERPINE1
42 rheumatoid arthritis 9.9
43 arthritis 9.9
44 glomerulonephritis 9.9
45 purpura 9.9
46 dysbaric osteonecrosis 9.9 F3 SERPINE1
47 carotid artery thrombosis 9.9 F3 SERPINE1
48 lemierre's syndrome 9.8 F3 SERPINE1
49 peripheral vertigo 9.8 F3 F5
50 coronary thrombosis 9.8 F3 SERPINE1

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



Diseases related to Factor Xiii Deficiency

Symptoms & Phenotypes for Factor Xiii Deficiency

MGI Mouse Phenotypes related to Factor Xiii Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.23 CPB2 F13A1 F13B F3 F5 F8

Drugs & Therapeutics for Factor Xiii Deficiency

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
2 tannic acid Approved, Nutraceutical Phase 3
3
Fibrinolysin Investigational Phase 3,Phase 2,Not Applicable 9004-09-5
4
Protein C Approved
5
Thrombin Approved, Investigational
6 Fibrinolytic Agents Not Applicable
7 Antifibrinolytic Agents
8 Antithrombin III
9 Antithrombins
10 Factor VIII
11 Plasminogen
12 Thromboplastin

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 An Open Enrollment Study of Factor XIII Concentrate in Subjects With Congenital Factor XIII Deficiency Completed NCT00945906 Phase 3
2 A Study of Factor XIII Concentrate in Subjects With Congenital Factor XIII Deficiency Completed NCT00885742 Phase 3
3 Safety of Monthly Recombinant Factor XIII Replacement Therapy in Subjects With Congenital Factor XIII Deficiency: An Extension to Trial F13CD-1725 Completed NCT00978380 Phase 3 catridecacog
4 Evaluation of Recombinant Factor XIII for Prevention of Bleeding in Patients With FXIII Inherited Deficiency Completed NCT00713648 Phase 3 catridecacog
5 A Study of the Use of Factor XIII Concentrate in Patients With Inherited FXIII Deficiency Completed NCT00883090 Phase 2
6 Safety and Pharmacokinetics of Recombinant Factor XIII in Patients With Congenital Factor Xlll Deficiency Completed NCT00056589 Phase 1 catridecacog
7 Factor XIII and Pulmonary Embolism in Neurosurgical Patients Unknown status NCT01106937
8 Clinical Trial of Factor XIII (FXIII) Concentrate Completed NCT00640289 Not Applicable Fibrogammin P
9 Wound Healing Abnormalities in Major Abdominal Surgery Completed NCT00735579
10 Factor XIII and Other Biomarkers in ST Segment Elevation Myocardial Infarction Recruiting NCT03523624
11 Factor XIII in Major Burns Coagulation Not yet recruiting NCT03188913

Search NIH Clinical Center for Factor Xiii Deficiency

Cochrane evidence based reviews: factor xiii deficiency

Genetic Tests for Factor Xiii Deficiency

Anatomical Context for Factor Xiii Deficiency

MalaCards organs/tissues related to Factor Xiii Deficiency:

41
Liver, Brain, Myeloid, Testes, Kidney, Spleen, Eye

Publications for Factor Xiii Deficiency

Articles related to Factor Xiii Deficiency:

(show top 50) (show all 251)
# Title Authors Year
1
Factor XIII deficiency diagnosis: Challenges and tools. ( 29027765 )
2018
2
Pathogenicity analysis of variations and prenatal diagnosis in a hereditary coagulation factor XIII deficiency family. ( 29307277 )
2018
3
Immunotolerance approach to refractory CNS bleeding in a patient with congenital factor XIII deficiency and acquired alloantibody. ( 29790627 )
2018
4
Molecular diagnosis of factor XIII deficiency, data from comprehensive coagulation laboratory in Iran. ( 29095761 )
2018
5
Identification of a novel nonsense mutation leading to congenital factor XIII deficiency. ( 29604433 )
2018
6
Factor XIII deficiency in south of Tunisia. ( 28704210 )
2017
7
Factor XIII deficiency enhances thrombin generation due to impaired fibrin polymerization - An effect corrected by Factor XIII replacement. ( 27902939 )
2017
8
Intracranial Hemorrhage: A Devastating Outcome of Congenital Bleeding Disorders-Prevalence, Diagnosis, and Management, with a Special Focus on Congenital Factor XIII Deficiency. ( 28898896 )
2017
9
Treatment with Recombinant Factor XIII (Tretten) in a Pregnant Woman with Factor XIII Deficiency. ( 28432284 )
2017
10
Factor XIII Deficiency and Thrombocytopenia Are Frequent Modulators of Postoperative Clot Firmness in a Surgical Intensive Care Unit. ( 28503124 )
2017
11
Fracture neck of femur in Factor XIII deficiency: Was better outcome possible? ( 29417025 )
2017
12
Defective I+2 antiplasmin cross-linking and thrombus stability in a case of acquired factor XIII deficiency. ( 28516512 )
2017
13
A large case series on surgical outcomes in congenital factor XIII deficiency patients in Iran. ( 29028293 )
2017
14
The first case report of a patient with acquired factor XIII deficiency in the context of autoimmune encephalitis. ( 28664679 )
2017
15
Lobar Hemorrhage Induced by Acquired Factor XIII Deficiency in a Patient with Cerebral Amyloid Angiopathy. ( 28801214 )
2017
16
Detection of Factor XIII deficiency: data from multicentre exercises amongst UK NEQAS and PRO-RBDD project laboratories. ( 28406553 )
2017
17
Molecular genetic analysis of ten unrelated Iranian patients with congenital factor XIII deficiency. ( 28013530 )
2016
18
Recurrent Post Tonsillectomy Secondary Hemorrhage in Patients with Factor XIII Deficiency: A Case Series and Review of Literature. ( 27843132 )
2016
19
Laboratory Diagnosis of Factor XIII Deficiency in Developing Countries: An Iranian Experience. ( 27346867 )
2016
20
Developing the First Recombinant Factor XIII for Congenital Factor XIII Deficiency: Clinical Challenges and Successes. ( 27556350 )
2016
21
Effects of Factor XIII Deficiency on Thromboelastography. Thromboelastography with Calcium and Streptokinase Addition is more Sensitive than Solubility Tests. ( 27648200 )
2016
22
Autoimmune acquired factor XIII deficiency due to anti-factor XIII/13 antibodies: A summary of 93 patients. ( 27542511 )
2016
23
Original tandem duplication in FXIIIA gene with splicing site modification and four amino acids insertion causes factor XIII deficiency. ( 27427785 )
2016
24
Diagnosis of factor XIII deficiency. ( 27077776 )
2016
25
Comparison of 2 Methods of Clot Solubility Testing in Detection of Factor XIII Deficiency. ( 27522062 )
2016
26
Long-term prophylaxis in patients with severe congenital factor XIII deficiency is not complicated by inhibitor formation. ( 27306330 )
2016
27
Medical and Surgical Management of Postpartum Hemorrhage in a Woman with Factor XIII Deficiency. ( 27635271 )
2016
28
Genetic basis of severe factor XIII deficiency in a large cohort of Indian patients: Identification of fourteen novel mutations. ( 26852661 )
2016
29
Acquired coagulation factor XIII deficiency: a case report. ( 26588447 )
2016
30
Long Term Follow up Study on a Large Group of Patients with Congenital Factor XIII Deficiency Treated Prophylactically with Fibrogammin PAr. ( 27642336 )
2016
31
Morbidity and mortality in a large number of Iranian patients with severe congenital factor XIII deficiency. ( 26692088 )
2016
32
Rotational thromboelastometry can detect factor XIII deficiency and bleeding diathesis in patients with liver cirrhosis. ( 27634287 )
2016
33
Establishment of a prenatal diagnosis schedule as part of a prophylaxis program of factor XIII deficiency in the southeast of Iran. ( 26703985 )
2016
34
An unusual case of factor xiii deficiency. ( 27728300 )
2016
35
Disseminated intravascular coagulation with positive D-dimer: a controversial clinical feature in severe congenital factor XIII deficiency in southeast Iran. ( 26836269 )
2016
36
Laboratory Diagnosis of Factor XIII Deficiency, Routine Coagulation Tests with Quantitative and Qualitative Methods. ( 27215067 )
2016
37
Blood coagulation factor XIII and factor XIII deficiency. ( 27344554 )
2016
38
Guidelines for laboratory diagnosis of factor XIII deficiency. ( 26588445 )
2016
39
Molecular Basis of Congenital Factor XIII Deficiency in Iran. ( 27879471 )
2016
40
Challenges in implementation of ISTH diagnostic algorithm for diagnosis and classification of factor XIII deficiency in Iran. ( 26099358 )
2015
41
Factor XIII Deficiency in Iran: A Comprehensive Review of the Literature. ( 25615432 )
2015
42
Identification of two novel missense mutations causing severe factor XIII deficiency. ( 25832324 )
2015
43
Pharmacokinetics and safety of plasma-derived factor XIII concentrate (human) in patients with congenital factor XIII deficiency. ( 25458735 )
2015
44
Mild factor XIII deficiency and concurrent hypofibrinogenemia: effect of pregnancy. ( 26575494 )
2015
45
The use of recombinant factor XIII in a major bleeding episode of a patient with congenital factor XIII deficiency--the first experience. ( 25471755 )
2015
46
Effect of Social Factors on the Highest Global Incidence of Congenital Factor XIII Deficiency in Southeast of Iran. ( 26155604 )
2015
47
Factor XIII deficiency revealed by spontaneous intramedullary hemorrhage: confirmation of a severe mutation. ( 25828969 )
2015
48
First cases of severe congenital factor XIII deficiency in Southwestern Afghanistan in the vicinity of southeast of Iran. ( 26226252 )
2015
49
Factor XIII deficiency and head trauma: management and therapy. ( 26116182 )
2015
50
Acquired factor xiii deficiency after desensitization as a potential contributor to postoperative bleeding: more than meets the eye. ( 25265989 )
2014

Variations for Factor Xiii Deficiency

Expression for Factor Xiii Deficiency

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

Pathways for Factor Xiii Deficiency

Pathways related to Factor Xiii Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

GO Terms for Factor Xiii Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.63 CPB2 F3 F5 F8 SERPINE1 SERPINF2
2 extracellular region GO:0005576 9.56 CPB2 F13A1 F13B F3 F5 F8
3 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.32 F5 F8
4 COPII-coated ER to Golgi transport vesicle GO:0030134 9.26 F5 F8
5 platelet alpha granule lumen GO:0031093 9.02 F13A1 F5 F8 SERPINE1 SERPINF2

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

# Name GO ID Score Top Affiliating Genes
1 platelet degranulation GO:0002576 9.55 F13A1 F5 F8 SERPINE1 SERPINF2
2 fibrinolysis GO:0042730 9.54 CPB2 SERPINE1 SERPINF2
3 negative regulation of fibrinolysis GO:0051918 9.5 CPB2 SERPINE1 SERPINF2
4 COPII vesicle coating GO:0048208 9.43 F5 F8
5 negative regulation of plasminogen activation GO:0010757 9.43 CPB2 SERPINE1 SERPINF2
6 blood coagulation GO:0007596 9.43 CPB2 F13A1 F13B F3 F5 F8
7 acute-phase response GO:0006953 9.4 F8 SERPINF2
8 hemostasis GO:0007599 9.1 CPB2 F13A1 F13B F3 F5 F8

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

# Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 8.96 F5 F8
2 protease binding GO:0002020 8.8 F3 SERPINE1 SERPINF2

Sources for Factor Xiii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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