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MCID: FCT005
MIFTS: 52

Factor Xiii Deficiency

Categories: Blood diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Factor Xiii Deficiency

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MalaCards integrated aliases for Factor Xiii Deficiency:

Name: Factor Xiii Deficiency 12 74 52 25 36 54 43 15 71
Hereditary Factor Xiii Deficiency Disease 12 6
Fibrin Stabilizing Factor Deficiency 52 25
Congenital Factor Xiii Deficiency 52 58
Deficiency, Laki-Lorand Factor 12 25
Fibrin-Stabilizing Factor Deficiency 58
Factor Xiii Deficiency Disease 12
Deficiency of Factor Xiii 25
Deficiency, Factor Xiii 39

Characteristics:

Orphanet epidemiological data:

58
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:

MalaCards categories:
Global: Rare diseases
Anatomical: Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:2211
KEGG 36 H00945
MeSH 43 D005177
NCIt 49 C98941
SNOMED-CT 67 50189006
ICD10 via Orphanet 33 D68.2
UMLS via Orphanet 72 C0015530
Orphanet 58 ORPHA331
UMLS 71 C0015530
Sources

Summaries for Factor Xiii Deficiency

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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. Signs and symptoms of inherited factor XIII deficiency begin soon after birth, usually with abnormal bleeding from the umbilical cord stump. If the condition is not treated, affected individuals may have episodes of excessive and prolonged bleeding that can be life-threatening. Abnormal bleeding can occur after surgery or minor trauma. The condition can also cause spontaneous bleeding into the joints or muscles, leading to pain and disability. Women with inherited factor XIII deficiency tend to have heavy or prolonged menstrual bleeding (menorrhagia) and may experience recurrent pregnancy losses (miscarriages). Other signs and symptoms of inherited factor XIII deficiency include nosebleeds, bleeding of the gums, easy bruising, problems with wound healing, bleeding after surgery, and abnormal scar formation. Inherited factor XIII deficiency also increases the risk of spontaneous bleeding inside the skull (intracranial hemorrhage), which is the leading cause of death in people with this condition. Acquired factor XIII deficiency becomes apparent later in life. People with the acquired form are less likely to have severe or life-threatening episodes of abnormal bleeding than those with the inherited form.

MalaCards based summary : Factor Xiii Deficiency, also known as hereditary factor xiii deficiency disease, is related to thrombasthenia and hemangioma, and has symptoms including prolonged umbilical cord bleeding 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 tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include myeloid, liver and brain, and related phenotypes are abnormal umbilical stump bleeding and reduced factor xiii activity

Disease Ontology : 12 An inherited blood coagulation disease that is characterized by easy bleeding, has symptom prolonged umbilical cord bleeding, epistaxis, bleeding of the gums, menorrhagia, recurrent miscarriages, abnormal scar formation and wound healing, and hemarthrosis, and has material basis in autosomal recessive inheritance of mutation of the F13A1 or F13B gene, which encodes Factor XIII, formally known as fibrin stabilizing factor.

NIH Rare Diseases : 52 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 .

KEGG : 36 Factor XIII deficiency is a rare autosomal recessive disorder characterized by defective cross-linking of fibrin and poor resistance to fibrinolysis. The severity of the bleeding tendency varies from benign symptoms like excessive bruising to life threatening bleeding emergencies such as intracranial hemorrhages. In plasma, FXIII circulates as a pro-transglutaminase composed of two catalytic A subunits and two non-catalytic B subunits. Symptoms that are almost pathognomonic for A subunit deficiency are umbilical bleeding in the neonatal period and repeated fetal wastage in pregnant females.

Wikipedia : 74 Factor XIII deficiency occurs exceedingly rarely, causing a severe bleeding tendency. The incidence is... more...

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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 276)
# Related Disease Score Top Affiliating Genes
1 thrombasthenia 30.0 F5 F3 F2
2 hemangioma 29.9 VWF F3 F2
3 eclampsia 29.8 SERPINE1 SERPINC1 F2
4 endocarditis 29.8 SERPINE1 SERPINC1 F2
5 hemophilia 29.7 F9 F8 F7
6 purpura 29.7 VWF SERPINC1 F3 F2
7 placental abruption 29.7 SERPINC1 F5 F2
8 liver cirrhosis 29.5 SERPINF2 SERPINC1 F3 F2
9 active peptic ulcer disease 29.3 VWF F7 F3 F2
10 acquired hemophilia 29.1 F9 F8 F5 F3
11 thrombophilia due to thrombin defect 28.9 SERPINE1 SERPINC1 F8 F5 F3 F2
12 compartment syndrome 28.9 SERPINC1 F8 F7 F3 F2
13 intracranial thrombosis 28.6 VWF SERPINC1 F8 F5 F3 F2
14 acute myocardial infarction 28.5 VWF SERPINF2 SERPINE1 SERPINC1 F7 F3
15 von willebrand's disease 28.2 VWF F9 F8 F7 F5 F3
16 vascular disease 28.0 VWF SERPINE1 SERPINC1 F8 F5 F3
17 thrombocytopenia 27.6 VWF SERPINE1 SERPINC1 F9 F5 F3
18 hemarthrosis 27.4 VWF MCFD2 F9 F8 F7 F3
19 disseminated intravascular coagulation 27.0 VWF SERPINF2 SERPINE1 SERPINC1 F9 F7
20 blood coagulation disease 26.8 VWF SERPINF2 SERPINE1 SERPINC1 F9 F8
21 afibrinogenemia, congenital 26.7 VWF SERPINF2 SERPINE1 SERPINC1 MCFD2 F8
22 hemorrhagic disease 26.6 VWF SERPINF2 SERPINE1 SERPINC1 F9 F8
23 pulmonary embolism 26.5 VWF SERPINF2 SERPINE1 SERPINC1 F9 F8
24 thrombosis 25.7 VWF SERPINF2 SERPINE1 SERPINC1 F9 F8
25 factor xiii, a subunit, deficiency of 11.9
26 factor xiii, b subunit, deficiency of 11.9
27 rare hemorrhagic disorder 10.6
28 prothrombin-related thrombophilia 10.4 F2 F13A1
29 plasminogen activator inhibitor-1 deficiency 10.4 SERPINF2 SERPINE1
30 amaurosis fugax 10.4 SERPINE1 F5
31 fainting 10.3 VWF F8
32 paracetamol poisoning 10.3 F5 F2
33 alkhurma hemorrhagic fever 10.3 F8 F3
34 arteritic anterior ischemic optic neuropathy 10.3 F5 F2
35 achenbach syndrome 10.3 F3 F2
36 pediatric angiosarcoma 10.3 VWF F8
37 renal pelvis squamous cell carcinoma 10.3 F3 F2
38 autosomal recessive disease 10.3
39 emphysematous cholecystitis 10.3 F3 F2
40 femoral neuropathy 10.3 F3 F2
41 hemopneumothorax 10.3 F3 F2
42 lymphangiosarcoma 10.3 VWF F8
43 gastric hemangioma 10.3 F3 F2
44 ankylosing spondylitis 1 10.3 F3 F2
45 hemopericardium 10.2 F3 F2
46 epidural abscess 10.2 F3 F2
47 thyroid angiosarcoma 10.2 VWF F8
48 fibrinolytic defect 10.2 SERPINE1 SERPINC1
49 generalized atherosclerosis 10.2 VWF SERPINE1
50 cold urticaria 10.2 SERPINF2 SERPINC1

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



Diseases related to Factor Xiii Deficiency
Sources

Symptoms & Phenotypes for Factor Xiii Deficiency

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Human phenotypes related to Factor Xiii Deficiency:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal umbilical stump bleeding 58 31 hallmark (90%) Very frequent (99-80%) HP:0011884
2 reduced factor xiii activity 58 31 hallmark (90%) Very frequent (99-80%) HP:0008357
3 umbilical cord hematoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0030657
4 bruising susceptibility 58 31 frequent (33%) Frequent (79-30%) HP:0000978
5 spontaneous hematomas 58 31 frequent (33%) Frequent (79-30%) HP:0007420
6 cerebral hemorrhage 58 31 frequent (33%) Frequent (79-30%) HP:0001342
7 oral cavity bleeding 58 31 frequent (33%) Frequent (79-30%) HP:0030140
8 intramuscular hematoma 58 31 frequent (33%) Frequent (79-30%) HP:0012233
9 joint hemorrhage 58 31 frequent (33%) Frequent (79-30%) HP:0005261
10 gingival bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0000225
11 epistaxis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000421
12 bleeding with minor or no trauma 58 31 occasional (7.5%) Occasional (29-5%) HP:0011889
13 menorrhagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000132
14 poor wound healing 58 31 occasional (7.5%) Occasional (29-5%) HP:0001058
15 post-partum hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0011891
16 persistent bleeding after trauma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001934
17 prolonged bleeding after dental extraction 58 31 occasional (7.5%) Occasional (29-5%) HP:0006298
18 prolonged bleeding after surgery 58 31 occasional (7.5%) Occasional (29-5%) HP:0004846
19 delayed onset bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0040232
20 prolonged bleeding following circumcision 58 31 occasional (7.5%) Occasional (29-5%) HP:0030137
21 ecchymosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0031364
22 recurrent spontaneous abortion 58 31 occasional (7.5%) Occasional (29-5%) HP:0200067
23 inflammation of the large intestine 58 31 very rare (1%) Very rare (<4-1%) HP:0002037
24 hepatic failure 58 31 very rare (1%) Very rare (<4-1%) HP:0001399
25 myeloid leukemia 58 31 very rare (1%) Very rare (<4-1%) HP:0012324
26 subcutaneous hemorrhage 58 Frequent (79-30%)

Symptoms:

12
  • • prolonged umbilical cord bleeding

MGI Mouse Phenotypes related to Factor Xiii Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.85 F13A1 F2 F3 F5 F7 F9
2 homeostasis/metabolism MP:0005376 9.83 CPB2 F13A1 F13B F2 F3 F5
3 mortality/aging MP:0010768 9.4 CPB2 F13A1 F2 F3 F5 F7
Sources

Drugs & Therapeutics for Factor Xiii Deficiency

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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
tannic acid Approved Phase 3 1401-55-4
2
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
3
Fibrinolysin Investigational Phase 3 9004-09-5
4 Fibrinolytic Agents Phase 3
5
Thrombin Approved, Investigational
6
Protein C Approved
7 Antithrombins
8 Antithrombin III
9 Antifibrinolytic Agents
10 Thromboplastin
11 Plasminogen
12 Factor VIII

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 A Prospective, Multicenter, Open-label, Phase 3b Study of Human Plasma-Derived Factor XIII Concentrate in Subjects With Congenital Factor XIII Deficiency Completed NCT00885742 Phase 3
2 A Prospective, Multicenter, Open Enrollment Study of Human Plasma-Derived Factor XIII Concentrate in Subjects With Congenital Factor XIII Deficiency Completed NCT00945906 Phase 3
3 A Multi-Centre, Open-Label, Single-Arm and Multiple Dosing Trial on Efficacy and Safety of Monthly Replacement Therapy With Recombinant Factor XIII (rFXIII) in Subjects With Congenital Factor XIII Deficiency Completed NCT00713648 Phase 3 catridecacog
4 A Multi-Centre, Open-Label, Single-Arm, and Multiple Dosing Trial on Safety of Monthly Replacement Therapy With Recombinant Factor XIII (rFXIII) in Subjects With Congenital Factor XIII Deficiency Completed NCT00978380 Phase 3 catridecacog
5 A 12 Week, Multicenter, Pharmacokinetic and Safety Study of Human Plasma-Derived Factor XIII Concentrate in Subjects With Congenital Factor XIII Deficiency Completed NCT00883090 Phase 2
6 A Phase 1 Escalating Dose Study of the Safety and Pharmacokinetics of Recombinant Factor XIII in Patients With Congenital Factor XIII Deficiency Completed NCT00056589 Phase 1 catridecacog
7 Cross-sectional Study on Prevalence of Coagulation Factors Deficiency in Children Attending Assiut University Children Hospital ( a One Year Study) Unknown status NCT03273998
8 Risk Factors for Perioperative Pulmonary Embolism in Neurosurgical Patients in Respect of Factor XIII Activity Unknown status NCT01106937
9 Major Burns Coagulation and the Role of Factor XIII: A Descriptive Study Unknown status NCT03188913
10 Clinical Research Study of Factor XIII Concentrate From Human Plasma Fibrogammin P in Patients With Factor XIII Deficiency Completed NCT00640289 Fibrogammin P
11 Impact of Acquired FXIII Deficiency on Morbidity and Mortality Among Hospitalized Patients Completed NCT04416594
12 Incidence of Wound-healing-abnormalities in Major Abdominal Surgery - Association With Factors of Coagulation Completed NCT00735579
13 Factor XIII and Other Biomarkers in ST Segment Elevation Myocardial Infarction Active, not recruiting NCT03523624

Search NIH Clinical Center for Factor Xiii Deficiency

Cochrane evidence based reviews: factor xiii deficiency

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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:

40
Myeloid, Liver, Brain, Testes, Kidney, Eye, Whole Blood
Sources

Publications for Factor Xiii Deficiency

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Articles related to Factor Xiii Deficiency:

(show top 50) (show all 473)
# Title Authors PMID Year
1
Congenital factor XIII deficiency: a commentary on 'Homozygous intronic mutation leading to inefficient transcription combined with a novel frame-shift mutation in F13A1 gene causes FXIII deficiency'. 61 6
21633364 2011
2
Novel Y283C mutation of the A subunit for coagulation factor XIII: molecular modelling predicts its impaired protein folding and dimer formation. 6 61
11380452 2001
3
Truncated mutant B subunit for factor XIII causes its deficiency due to impaired intracellular transportation. 6 61
11313256 2001
4
Two novel and one recurrent missense mutation in the factor XIII A gene in two Dutch patients with factor XIII deficiency. 61 6
11167856 2001
5
Molecular mechanisms of type II factor XIII deficiency: novel Gly562-Arg mutation and C-terminal truncation of the A subunit cause factor XIII deficiency as characterized in a mammalian expression system. 61 6
9531593 1998
6
Type I factor XIII deficiency is caused by a genetic defect of its b subunit: insertion of triplet AAC in exon III leads to premature termination in the second Sushi domain. 6 61
8639893 1996
7
Mutations causing coagulation factor XIII subunit A deficiency: characterization of the mutant proteins after expression in yeast. 61 6
7727776 1995
8
Genetic heterogeneity of factor XIII deficiency: first description of unstable A subunits. 61 6
7236530 1981
9
Homozygous intronic mutation leading to inefficient transcription combined with a novel frameshift mutation in F13A1 gene causes FXIII deficiency. 6
21512576 2011
10
The Arg703Trp missense mutation in F13A1 is a de novo event. 6
19438481 2009
11
Mutations in coagulation factor XIII A gene in three Turkish patients: two novel mutations and a known insertion. 6
12100162 2002
12
Identification and characterization of two missense mutations causing factor XIIIA deficiency. 6
10027709 1999
13
A novel insertion mutation (1286insC) in exon 9 of the factor XIII-A subunit gene. 6
9712293 1998
14
Four novel mutations in deficiency of coagulation factor XIII: consequences to expression and structure of the A-subunit. 6
8547636 1996
15
Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels. 6
8025280 1994
16
Factor XIII ABristol 1: detection of a nonsense mutation (Arg171-->stop codon) in factor XIII A subunit deficiency. 6
7918041 1993
17
Two genetic defects in a patient with complete deficiency of the b-subunit for coagulation factor XIII. 6
8324218 1993
18
Deficiency of coagulation factor XIII A subunit caused by the dinucleotide deletion at the 5' end of exon III. 6
1644910 1992
19
Identification of a point mutation in factor XIII A subunit deficiency. 6
1353995 1992
20
A familial factor XIII subunit B deficiency. 6
2334637 1990
21
Identification of eight novel coagulation factor XIII subunit A mutations: implied consequences for structure and function. 61 54
20179087 2010
22
Clinical audit of inherited bleeding disorders in a developing country. 61 54
20090222 2010
23
Menorrhagia and reproductive health in rare bleeding disorders: a study from the Indian subcontinent. 54 61
18803553 2009
24
Cerebral thrombosis associated with heterozygous factor V Leiden mutation and high lipoprotein(a) level in a girl with factor XIII deficiency. 61 54
17473580 2007
25
Clinical and prognostic role of plasma coagulation factor XIII activity for bleeding disorders and 6-year survival in patients with chronic liver disease. 61 54
16448455 2006
26
[Molecular mechanisms of two novel mutations of factor XIII gene resulting in hereditary coagulation deficiency]. 61 54
14720426 2003
27
Transjugular liver biopsy is safe and diagnostic for patients with congenital bleeding disorders and hepatitis C infection. 61 54
14511303 2003
28
Identification of an inframe deletion and a missense mutation in the factor XIIIA gene in two Turkish patients. 54 61
12801297 2003
29
Rare inherited coagulation disorders in India. 61 54
9283899 1996
30
Gynecological and obstetric outcome in the French cohort of women with factor XIII deficiency. 61
32360976 2020
31
Autoimmune factor XIII deficiency with unusual laboratory and clinical phenotype. 61
32311817 2020
32
Severe bleeding in a patient with Factor XIII deficiency and COVID-19. 61
32516478 2020
33
Concurrent hematoma and venous thrombosis in a patient with autoimmune acquired factor XIII deficiency. 61
31132215 2020
34
Factor XIII Deficiency in Western Afghanistan due to a Novel F13A Gene Mutation. 61
31136071 2020
35
Factor XIII deficiency in two Spanish families with a novel variant in gene F13A1 detected by next-generation sequencing; symptoms and clinical management. 61
32060721 2020
36
Novel deep intronic mutation in the coagulation factor XIII a chain gene leading to unexpected RNA splicing in a patient with factor XIII deficiency. 61
31914974 2020
37
Acquired Factor XIII Deficiency Inducing Recurrent and Fatal Bleeding, Description of a Case. 61
32099500 2020
38
Congenital factor XIII deficiency: comprehensive overview of the FranceCoag cohort. 61
31414482 2020
39
Factor XIII deficiency does not prevent FeCl3-induced carotid artery thrombus formation in mice. 61
31989092 2020
40
Acquired factor XIII deficiency in two patients with bleeding events during veno-venous extracorporeal membrane oxygenation treatment. 61
31834529 2019
41
Expression and CpG island methylation pattern of MMP-2 and MMP-9 genes in patients with congenital factor XIII deficiency and intracranial hemorrhage. 61
31469059 2019
42
Factor XIII deficiency leading to preseptal haematoma post-strabismus surgery. 61
31727636 2019
43
Congenital Factor XIII Deficiency With the Presence of Inhibitor: A Case Study. 61
31764516 2019
44
Acute kidney injury is associated with low factor XIII in decompensated cirrhosis. 61
30967339 2019
45
Benefits of thromboelastometry for monitoring replacement therapy in patients with severe inherited factor XIII deficiency: 3 illustrative cases. 61
31361371 2019
46
Valproic Acid-Induced Coagulopathy. 61
31201069 2019
47
Penile prosthesis implant for primary erectile dysfunction in patient with Klippel-Trenaunay syndrome complicated by consumptive coagulopathy: A case report. 61
31393387 2019
48
Factor XIII deficiency with intracranial haemorrhage. 61
31451452 2019
49
Phenotype and genotype of FXIII deficiency in two unrelated probands: identification of a novel F13A1 large deletion mediated by complex rearrangement. 61
31340840 2019
50
Factor XIII mutation spectrum in Iranian patients with hereditary factor XIII deficiency: Detection of 3 novel mutations. 61
30578706 2019
Sources

Variations for Factor Xiii Deficiency

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ClinVar genetic disease variations for Factor Xiii Deficiency:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 F13A1 NM_000129.3(F13A1):c.563G>T (p.Trp188Leu)SNV Pathogenic 634901 rs1561673120 6:6266799-6266799 6:6266566-6266566
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Expression for Factor Xiii Deficiency

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

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Pathways related to Factor Xiii Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

Pathways related to Factor Xiii Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Response to elevated platelet cytosolic Ca2+ 65
Show member pathways
 13.01 VWF SERPINF2 SERPINE1 SERPINC1 F9 F8
2
Collagen chain trimerization 65
Show member pathways
 12.68 SERPINC1 F9 F8 F7 F5 F3
3
Formation of Fibrin Clot (Clotting Cascade) 65
Show member pathways
 11.94 VWF SERPINF2 SERPINE1 SERPINC1 F9 F8
4
Gamma carboxylation, hypusine formation and arylsulfatase activation 65
Show member pathways
 11.61 F9 F7 F2
5
Complement and coagulation cascades 36 1
11.6 VWF SERPINF2 SERPINE1 SERPINC1 F9 F8
6
Warfarin Pathway, Pharmacodynamics 60
10.67 F9 F7 F2
7
Dissolution of Fibrin Clot 65
10.48 SERPINF2 SERPINE1
Sources

GO Terms for Factor Xiii Deficiency

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.04 VWF SERPINF2 SERPINE1 SERPINC1 F9 F2
2 extracellular region GO:0005576 9.97 VWF SERPINF2 SERPINE1 SERPINC1 F9 F8
3 extracellular space GO:0005615 9.96 SERPINF2 SERPINE1 SERPINC1 F9 F8 F7
4 endoplasmic reticulum lumen GO:0005788 9.8 SERPINC1 F9 F8 F7 F5 F2
5 blood microparticle GO:0072562 9.71 SERPINF2 SERPINC1 F2 F13A1
6 Golgi lumen GO:0005796 9.63 F9 F7 F2
7 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.61 MCFD2 F8 F5
8 platelet alpha granule GO:0031091 9.48 VWF F5
9 platelet alpha granule lumen GO:0031093 9.43 VWF SERPINF2 SERPINE1 F8 F5 F13A1
10 serine-type peptidase complex GO:1905286 9.37 F7 F3
11 collagen-containing extracellular matrix GO:0062023 9.28 VWF SERPINF2 SERPINE1 SERPINC1 F9 F7

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.88 MCFD2 F9 F8 F7 F5 F2
2 negative regulation of endopeptidase activity GO:0010951 9.75 SERPINF2 SERPINE1 SERPINC1
3 negative regulation of peptidase activity GO:0010466 9.74 SERPINF2 SERPINE1 SERPINC1
4 platelet activation GO:0030168 9.73 VWF F8 F2
5 platelet degranulation GO:0002576 9.73 VWF SERPINF2 SERPINE1 F8 F5 F13A1
6 COPII vesicle coating GO:0048208 9.7 MCFD2 F8 F5
7 hemostasis GO:0007599 9.7 VWF SERPINC1 F9 F8 F7 F5
8 fibrinolysis GO:0042730 9.67 SERPINF2 SERPINE1 F2 CPB2
9 acute-phase response GO:0006953 9.65 SERPINF2 F8 F2
10 positive regulation of blood coagulation GO:0030194 9.63 SERPINE1 F7 F2
11 blood coagulation, intrinsic pathway GO:0007597 9.62 VWF F9 F8 F2
12 negative regulation of plasminogen activation GO:0010757 9.61 SERPINF2 SERPINE1 CPB2
13 positive regulation of collagen biosynthetic process GO:0032967 9.58 SERPINF2 F2
14 regulation of blood coagulation GO:0030193 9.55 SERPINC1 F2
15 positive regulation of positive chemotaxis GO:0050927 9.54 F7 F3
16 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.51 F7 F3
17 blood coagulation, extrinsic pathway GO:0007598 9.49 F7 F3
18 negative regulation of fibrinolysis GO:0051918 9.46 SERPINF2 SERPINE1 F2 CPB2
19 blood coagulation GO:0007596 9.36 VWF SERPINC1 F9 F8 F7 F5

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

# Name GO ID Score Top Affiliating Genes
1 serine-type peptidase activity GO:0008236 9.5 F9 F7 F2
2 peptidase inhibitor activity GO:0030414 9.43 SERPINF2 SERPINE1 SERPINC1
3 serine-type endopeptidase inhibitor activity GO:0004867 9.33 SERPINF2 SERPINE1 SERPINC1
4 serine-type endopeptidase activity GO:0004252 9.26 F9 F7 F3 F2
5 protease binding GO:0002020 9.02 VWF SERPINF2 SERPINE1 SERPINC1 F3
Sources

Sources for Factor Xiii Deficiency

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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