MCID: FCT005
MIFTS: 43

Factor Xiii Deficiency malady

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Factor Xiii Deficiency

Aliases & Descriptions for Factor Xiii Deficiency:

Name: Factor Xiii Deficiency 12 50 25 52 42 14 69
Fibrin Stabilizing Factor Deficiency 50 25
Congenital Factor Xiii Deficiency 50 56
Deficiency, Laki-Lorand Factor 12 25
Hereditary Factor Xiii Deficiency Disease 12
Fibrin-Stabilizing Factor Deficiency 56
Factor Xiii Deficiency Disease 12
Deficiency of Factor Xiii 25

Characteristics:

Orphanet epidemiological data:

56
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 42 D005177
NCIt 47 C98941
SNOMED-CT 64 18604004 50189006
Orphanet 56 ORPHA331
ICD10 via Orphanet 34 D68.2
UMLS 69 C0015530

Summaries for Factor Xiii Deficiency

NIH Rare Diseases : 50 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 factor xiiib deficiency. An important gene associated with Factor Xiii Deficiency is F13A1 (Coagulation Factor XIII A Chain), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Benzocaine and Fibrinolysin have been mentioned in the context of this disorder. Affiliated tissues include liver, myeloid and brain, 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 : 71 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 112)
id Related Disease Score Top Affiliating Genes
1 myocardial infarction 28.6 F13A1 F3 F5 F8 SERPINE1 SERPINF2
2 factor xiiib deficiency 11.2
3 factor xiiia deficiency 11.2
4 rectal prolapse 10.2 F13A1 F5
5 inflammatory bowel disease 11 10.2 SERPINE1 SERPINF2
6 eagle syndrome 10.2 F13A1 F5
7 chronic fatigue syndrome 10.1 SERPINE1 SERPINF2
8 sezary's disease 10.1 SERPINE1 SERPINF2
9 absence of innominate vein 10.1 F5 SERPINE1
10 stt3a-cdg and stt3b-cdg 10.1 F5 SERPINE1
11 aminoaciduria 10.1 F5 SERPINE1
12 lubinsky syndrome 10.1 F5 SERPINE1
13 lymphocytic colitis 10.1 F5 SERPINE1
14 microphthalmia, isolated, with coloboma 10 10.1 F5 SERPINE1
15 czech dysplasia 10.1 F5 SERPINE1
16 mental retardation hypotonia skin hyperpigmentation 10.1 F5 SERPINE1
17 erythrocytosis, familial, 4 10.1 F5 F8
18 chronic erythremia 10.1 F13A1 F8
19 dysgammaglobulinemia 10.1 F5 SERPINE1
20 bladder hepatoid adenocarcinoma 10.1 F5 F8
21 influenza 10.0 F3 SERPINF2
22 scar contracture 10.0 F5 SERPINE1
23 mixed hepatoblastoma 10.0 F3 SERPINF2
24 dmd-related dilated cardiomyopathy 10.0 F3 SERPINF2
25 ductal carcinoma in situ 10.0 F3 SERPINF2
26 pleural disease 10.0 F8 SERPINF2
27 pancreatic ductal carcinoma 10.0 F3 F5
28 hendra virus infection 10.0 F3 F5
29 epstein-barr virus hepatitis 10.0 F3 SERPINF2
30 midline cystocele 10.0 F3 SERPINE1
31 neuronopathy, distal hereditary motor, type iid 10.0 F3 F5
32 subclavian artery aneurysm 10.0 F3 SERPINE1
33 craniodiaphyseal dysplasia 10.0 F3 SERPINE1
34 monocular exotropia 10.0 F3 SERPINE1
35 freiberg's disease 10.0 F3 F8
36 septic myocarditis 10.0 F3 SERPINF2
37 arcus senilis 10.0 F3 SERPINE1
38 alpha-2-macroglobulin deficiency 10.0 F3 F8
39 dyskinetic cerebral palsy 10.0 F3 F8
40 blepharoconjunctivitis 10.0 F3 F5
41 intestinal disaccharidase deficiency 10.0 F3 F5
42 hennekam lymphangiectasia-lymphedema syndrome 2 9.9 F3 SERPINF2
43 craniopharyngioma 9.9 F3 SERPINE1
44 essential thrombocythemia 9.9 F3 F8
45 multiple mitochondrial dysfunctions syndrome 9.9 F3 F8
46 spinocerebellar ataxia 27 9.9 F3 F8
47 bullous skin disease 9.9 F5 F8 SERPINE1
48 neuroaxonal dystrophy 9.9 F5 F8 SERPINE1
49 scapuloperoneal myopathy, x-linked dominant 9.9 F3 F8
50 oguchi disease-2 9.9 F3 F5

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:

44
id 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):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
2
Fibrinolysin Approved Phase 3,Phase 2 9004-09-5
3 tannic acid Approved, Nutraceutical Phase 3
4 Fibrinolytic Agents
5 Protein C

Interventional clinical trials:

(show all 17)
id Name Status NCT ID Phase
1 A Study of Factor XIII Concentrate in Subjects With Congenital Factor XIII Deficiency Completed NCT00885742 Phase 3
2 An Open Enrollment Study of Factor XIII Concentrate in Subjects With Congenital Factor XIII Deficiency Completed NCT00945906 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
4 Evaluation of Recombinant Factor XIII for Prevention of Bleeding in Patients With FXIII Inherited Deficiency Completed NCT00713648 Phase 3
5 Safety and Efficacy of Monthly Replacement Therapy With Recombinant Factor XIII (rFXIII) in Paediatric Subjects With Congenital Factor XIII A-subunit Deficiency Completed NCT01253811 Phase 3
6 Safety of a Single Intravenous Dose of Recombinant Factor XIII in Children With Congenital FXIII A-subunit Deficiency Completed NCT01230021 Phase 3
7 A Study of the Use of Factor XIII Concentrate in Patients With Inherited FXIII Deficiency Completed NCT00883090 Phase 2
8 Safety and Pharmacokinetics of Recombinant Factor XIII in Patients With Congenital Factor Xlll Deficiency Completed NCT00056589 Phase 1
9 Comparison of a Blood Clotting Drug (Recombinant Factor XIII) Produced by Two Different Manufacturers in Healthy Male Subjects Completed NCT01082406 Phase 1
10 Safety and Pharmacokinetics of Recombinant Factor XIII in Healthy Volunteers Completed NCT01847989 Phase 1
11 Safety and Pharmacokinetics of Recombinant Factor XIII Administration in Healthy Volunteers Completed NCT01848002 Phase 1
12 Factor XIII and Pulmonary Embolism in Neurosurgical Patients Unknown status NCT01106937
13 Clinical Trial of Factor XIII (FXIII) Concentrate Completed NCT00640289
14 Wound Healing Abnormalities in Major Abdominal Surgery Completed NCT00735579
15 Evaluation of Clot Stability Induced by Solulin: Evaluation of New Solulin Mutants Lacking Protein C Activation Capacity Completed NCT02911233
16 Use of rFXIII in Treatment of Congenital FXIII Deficiency, a Prospective Multi-centre Observational Study Enrolling by invitation NCT01862367
17 A Study of Safety and Effectiveness of NovoThirteen® (rFXIII) During Treatment of Congenital FXIII Deficiency in Japan Enrolling by invitation NCT02670213

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:

39
Liver, Myeloid, Brain, Testes, Kidney, Breast, Spleen

Publications for Factor Xiii Deficiency

Articles related to Factor Xiii Deficiency:

(show top 50) (show all 235)
id Title Authors Year
1
Factor XIII deficiency enhances thrombin generation due to impaired fibrin polymerization - An effect corrected by Factor XIII replacement. ( 27902939 )
2017
2
Establishment of a prenatal diagnosis schedule as part of a prophylaxis program of factor XIII deficiency in the southeast of Iran. ( 26703985 )
2016
3
Autoimmune acquired factor XIII deficiency due to anti-factor XIII/13 antibodies: A summary of 93 patients. ( 27542511 )
2016
4
Long Term Follow up Study on a Large Group of Patients with Congenital Factor XIII Deficiency Treated Prophylactically with Fibrogammin PAr. ( 27642336 )
2016
5
Disseminated intravascular coagulation with positive D-dimer: a controversial clinical feature in severe congenital factor XIII deficiency in southeast Iran. ( 26836269 )
2016
6
Guidelines for laboratory diagnosis of factor XIII deficiency. ( 26588445 )
2016
7
Blood coagulation factor XIII and factor XIII deficiency. ( 27344554 )
2016
8
Comparison of 2 Methods of Clot Solubility Testing in Detection of Factor XIII Deficiency. ( 27522062 )
2016
9
Morbidity and mortality in a large number of Iranian patients with severe congenital factor XIII deficiency. ( 26692088 )
2016
10
Medical and Surgical Management of Postpartum Hemorrhage in a Woman with Factor XIII Deficiency. ( 27635271 )
2016
11
Molecular genetic analysis of ten unrelated Iranian patients with congenital factor XIII deficiency. ( 28013530 )
2016
12
Laboratory Diagnosis of Factor XIII Deficiency, Routine Coagulation Tests with Quantitative and Qualitative Methods. ( 27215067 )
2016
13
Long-term prophylaxis in patients with severe congenital factor XIII deficiency is not complicated by inhibitor formation. ( 27306330 )
2016
14
Molecular Basis of Congenital Factor XIII Deficiency in Iran. ( 27879471 )
2016
15
Effects of Factor XIII Deficiency on Thromboelastography. Thromboelastography with Calcium and Streptokinase Addition is more Sensitive than Solubility Tests. ( 27648200 )
2016
16
Recurrent Post Tonsillectomy Secondary Hemorrhage in Patients with Factor XIII Deficiency: A Case Series and Review of Literature. ( 27843132 )
2016
17
Diagnosis of factor XIII deficiency. ( 27077776 )
2016
18
Genetic basis of severe factor XIII deficiency in a large cohort of Indian patients: Identification of fourteen novel mutations. ( 26852661 )
2016
19
Rotational thromboelastometry can detect factor XIII deficiency and bleeding diathesis in patients with liver cirrhosis. ( 27634287 )
2016
20
Original tandem duplication in FXIIIA gene with splicing site modification and four amino acids insertion causes factor XIII deficiency. ( 27427785 )
2016
21
Laboratory Diagnosis of Factor XIII Deficiency in Developing Countries: An Iranian Experience. ( 27346867 )
2016
22
Developing the First Recombinant Factor XIII for Congenital Factor XIII Deficiency: Clinical Challenges and Successes. ( 27556350 )
2016
23
Acquired coagulation factor XIII deficiency: a case report. ( 26588447 )
2016
24
An unusual case of factor xiii deficiency. ( 27728300 )
2016
25
Factor XIII deficiency revealed by spontaneous intramedullary hemorrhage: confirmation of a severe mutation. ( 25828969 )
2015
26
Challenges in implementation of ISTH diagnostic algorithm for diagnosis and classification of factor XIII deficiency in Iran. ( 26099358 )
2015
27
Identification of two novel missense mutations causing severe factor XIII deficiency. ( 25832324 )
2015
28
Pharmacokinetics and safety of plasma-derived factor XIII concentrate (human) in patients with congenital factor XIII deficiency. ( 25458735 )
2015
29
Effect of Social Factors on the Highest Global Incidence of Congenital Factor XIII Deficiency in Southeast of Iran. ( 26155604 )
2015
30
Mild factor XIII deficiency and concurrent hypofibrinogenemia: effect of pregnancy. ( 26575494 )
2015
31
First cases of severe congenital factor XIII deficiency in Southwestern Afghanistan in the vicinity of southeast of Iran. ( 26226252 )
2015
32
Factor XIII Deficiency in Iran: A Comprehensive Review of the Literature. ( 25615432 )
2015
33
The use of recombinant factor XIII in a major bleeding episode of a patient with congenital factor XIII deficiency--the first experience. ( 25471755 )
2015
34
Factor XIII deficiency and head trauma: management and therapy. ( 26116182 )
2015
35
Factor XIII deficiency: complete phenotypic characterization of two cases with novel causative mutations. ( 24118344 )
2014
36
Central nervous system bleeding in pediatric patients with factor XIII deficiency: A study on 23 new cases. ( 25001244 )
2014
37
Factor XIII deficiency management: a review of the literature. ( 24401950 )
2014
38
Fibrinogen but not factor XIII deficiency is associated with bleeding after craniotomy. ( 24871873 )
2014
39
Symptomatic factor XIII deficiency with normal urea solubility test. ( 25651747 )
2014
40
Clinical manifestations and management of life-threatening bleeding in the largest group of patients with severe factor XIII deficiency. ( 25230816 )
2014
41
A new era of therapy for congenital factor XIII deficiency. ( 25003489 )
2014
42
Efficacy and safety of prophylactic treatment with plasma-derived factor XIII concentrate (human) in patients with congenital factor XIII deficiency. ( 25377187 )
2014
43
Association between expression of MMP-2 and MMP-9 genes and pathogenesis of intracranial hemorrhage in severe coagulation factor XIII deficiency. ( 25544259 )
2014
44
Acquired factor xiii deficiency after desensitization as a potential contributor to postoperative bleeding: more than meets the eye. ( 25265989 )
2014
45
Recurrent episodes of severe bleeding caused by congenital factor XIII deficiency in a dog. ( 25356716 )
2014
46
Development of anti-factor XIII antibodies in a patient with hereditary factor XIII deficiency receiving therapy for chronic hepatitis C. ( 25333572 )
2014
47
Novel and recurrent mutations in the F13A1 gene in unrelated Korean patients with congenital factor XIII deficiency. ( 25004025 )
2014
48
Ovarian haemorrhage: a rare presentation and diagnostic dilemma in factor XIII deficiency. ( 24640817 )
2014
49
Factor XIII Assays and associated problems for laboratory diagnosis of factor XIII deficiency: an analysis of International Proficiency testing results. ( 24497117 )
2014
50
Polymorphism of thrombin-activatable fibrinolysis inhibitor and risk of intracranial haemorrhage in factor XIII deficiency. ( 24354489 )
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

GO Terms for Factor Xiii Deficiency

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

id 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 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 9.16 F5 F8
2 serine-type endopeptidase activity GO:0004252 9.13 F3 F5 F8
3 protease binding GO:0002020 8.8 F3 SERPINE1 SERPINF2

Sources for Factor Xiii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....