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MCID: FCT005
MIFTS: 55

Factor Xiii Deficiency

Categories: Blood diseases, Genetic 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 20 43 36 54 6 44 15 71
Hereditary Factor Xiii Deficiency Disease 12 6
Fibrin Stabilizing Factor Deficiency 20 43
Congenital Factor Xiii Deficiency 20 58
Deficiency, Laki-Lorand Factor 12 43
Fibrin-Stabilizing Factor Deficiency 58
Factor Xiii Deficiency Disease 12
Deficiency of Factor Xiii 43
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 Genetic 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 44 D005177
NCIt 50 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

About this section
MedlinePlus Genetics : 43 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 hemophilia and acquired hemophilia, 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 Benzocaine and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include myeloid, kidney and liver, and related phenotypes are abnormal umbilical stump bleeding and reduced factor xiii activity

Disease Ontology : 12 A 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.

GARD : 20 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...

Sources

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 286)
# Related Disease Score Top Affiliating Genes
1 hemophilia 30.6 F8 F7
2 acquired hemophilia 30.1 F8 F5 F3
3 thrombasthenia 30.0 F5 F3 F2
4 hemangioma 29.9 VWF F3 F2
5 purpura 29.8 VWF SERPINC1 F3 F2
6 endocarditis 29.8 SERPINE1 SERPINC1 F2
7 von willebrand's disease 29.7 VWF F8 F7 F3 F2
8 placental abruption 29.7 SERPINC1 F5 F2
9 liver cirrhosis 29.6 SERPINF2 SERPINC1 F3 F2
10 aspiration pneumonia 29.6 F3 F2
11 active peptic ulcer disease 29.5 VWF F7 F3 F2
12 compartment syndrome 29.1 SERPINC1 F8 F7 F3 F2
13 intracranial thrombosis 28.9 VWF SERPINC1 F8 F5 F3 F2
14 acute myocardial infarction 28.8 VWF SERPINF2 SERPINE1 SERPINC1 F7 F3
15 hemarthrosis 28.6 VWF MCFD2 F8 F7 F3 F2
16 disseminated intravascular coagulation 28.4 VWF SERPINF2 SERPINE1 SERPINC1 F7 F5
17 vascular disease 28.4 VWF SERPINE1 SERPINC1 F8 F5 F3
18 afibrinogenemia, congenital 28.2 VWF SERPINF2 SERPINE1 SERPINC1 F8 F7
19 pulmonary embolism 28.0 VWF SERPINF2 SERPINE1 SERPINC1 F8 F5
20 thrombosis 27.5 VWF SERPINF2 SERPINE1 SERPINC1 F8 F7
21 blood coagulation disease 27.5 VWF SERPINF2 SERPINE1 SERPINC1 NBEAL2 F8
22 thrombocytopenia 26.9 VWF SERPINE1 SERPINC1 NBEAL2 MCFD2 F8
23 hemorrhagic disease 26.4 VWF SERPINF2 SERPINE1 SERPINC1 NBEAL2 MCFD2
24 factor xiii, a subunit, deficiency of 11.5
25 factor xiii, b subunit, deficiency of 11.4
26 rare hemorrhagic disorder 10.7
27 autosomal recessive disease 10.4
28 plasminogen activator inhibitor-1 deficiency 10.3 SERPINF2 SERPINE1
29 amaurosis fugax 10.3 SERPINE1 F5
30 korean hemorrhagic fever 10.3 SERPINF2 F3
31 prothrombin thrombophilia 10.3 F2 F13A1
32 paracetamol poisoning 10.2 F5 F2
33 fainting 10.2 VWF F8
34 acute leukemia 10.2
35 arteritic anterior ischemic optic neuropathy 10.2 F5 F2
36 aspirin resistance 10.2 F5 F2
37 sudden sensorineural hearing loss 10.2 F5 F2
38 pediatric angiosarcoma 10.2 VWF F8
39 achenbach syndrome 10.2 F3 F2
40 renal pelvis squamous cell carcinoma 10.2 F3 F2
41 breast hemangioma 10.2 VWF F8
42 femoral neuropathy 10.2 F3 F2
43 postinflammatory pulmonary fibrosis 10.2 SERPINE1 F3
44 emphysematous cholecystitis 10.2 F3 F2
45 hemopneumothorax 10.2 F3 F2
46 cerebral falx meningioma 10.2 F3 F2
47 ankylosing spondylitis 1 10.2 F3 F2
48 pulmonary embolism and infarction 10.2 F3 F2
49 acute pulmonary heart disease 10.2 F3 F2
50 epidural abscess 10.2 F3 F2

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 epistaxis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000421
11 gingival bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0000225
12 poor wound healing 58 31 occasional (7.5%) Occasional (29-5%) HP:0001058
13 bleeding with minor or no trauma 58 31 occasional (7.5%) Occasional (29-5%) HP:0011889
14 menorrhagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000132
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.47 CPB2 F13A1 F13B F2 F3 F5
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
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
2
tannic acid Approved Phase 3 1401-55-4
3
Fibrinolysin Investigational Phase 3 9004-09-5
4 Fibrinolytic Agents Phase 3
5
Thrombin Approved, Investigational
6
Protein C Approved
7 Antithrombins
8 Thromboplastin
9 Plasminogen
10 Antithrombin III
11 Antifibrinolytic Agents
12 Factor VIII

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 A Prospective, Multicenter, Open Enrollment Study of Human Plasma-Derived Factor XIII Concentrate in Subjects With Congenital Factor XIII Deficiency Completed NCT00945906 Phase 3
2 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
3 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
4 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
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 Risk Factors for Perioperative Pulmonary Embolism in Neurosurgical Patients in Respect of Factor XIII Activity Unknown status NCT01106937
8 Major Burns Coagulation and the Role of Factor XIII: A Descriptive Study Unknown status NCT03188913
9 Impact of Acquired FXIII Deficiency on Morbidity and Mortality Among Hospitalized Patients Completed NCT04416594
10 Incidence of Wound-healing-abnormalities in Major Abdominal Surgery - Association With Factors of Coagulation Completed NCT00735579
11 Clinical Research Study of Factor XIII Concentrate From Human Plasma Fibrogammin P in Patients With Factor XIII Deficiency Completed NCT00640289 Fibrogammin P
12 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

Sources

Genetic Tests for Factor Xiii Deficiency

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Sources

Anatomical Context for Factor Xiii Deficiency

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MalaCards organs/tissues related to Factor Xiii Deficiency:

40
Myeloid, Kidney, Liver, Placenta, Eye, Whole Blood, Spleen
Sources

Publications for Factor Xiii Deficiency

About this section

Articles related to Factor Xiii Deficiency:

(show top 50) (show all 488)
# 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'. 6 61
21633364 2011
2
Novel Y283C mutation of the A subunit for coagulation factor XIII: molecular modelling predicts its impaired protein folding and dimer formation. 61 6
11380452 2001
3
Truncated mutant B subunit for factor XIII causes its deficiency due to impaired intracellular transportation. 61 6
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
Identification of a point mutation in factor XIII A subunit deficiency. 6
1353995 1992
19
Deficiency of coagulation factor XIII A subunit caused by the dinucleotide deletion at the 5' end of exon III. 6
1644910 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. 54 61
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. 54 61
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. 54 61
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
Severe bleeding in a patient with factor XIII deficiency and COVID-19. 61
32516478 2021
31
Acquired factor XIII deficiency in a child with pure erythroid leukemia. 61
33484080 2021
32
Autoimmune Acquired Factor XIII Deficiency: A Case Report. 61
33603527 2021
33
Training Program for Home Therapy of People With Factor XIII Deficiency. 61
33512863 2021
34
Congenital Factor XIII Deficiency With the Presence of Inhibitor: A Case Study. 61
31764516 2021
35
Successful completion of transurethral lithotripsy in a patient with factor XIII deficiency: A case report. 61
33094094 2021
36
Prenatal diagnosis of factor 13 deficiency and its recurrence. 61
33370964 2020
37
Nonimmune-acquired factor XIII deficiency: a cause of high volume and delayed postoperative hemorrhage. 61
32852328 2020
38
Mining of mortality-related findings in rare bleeding disorders: a retrospective study from two centers. 61
33232939 2020
39
How to Assess Founder Effect in Patients with Congenital Factor XIII Deficiency. 61
33603988 2020
40
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
41
A novel Cys328-terminator mutant implicated in severe coagulation factor XIII deficiency: a case report. 61
32883222 2020
42
Acquired factor XIII deficiency in patients under therapeutic plasma exchange: A poorly explored etiology. 61
32942343 2020
43
Acquired factor XIII deficiency in two patients with bleeding events during veno-venous extracorporeal membrane oxygenation treatment. 61
31834529 2020
44
Pubertal Menorrhagia - A Rare Presentation of Congenital Factor XIII Deficiency. 61
32844776 2020
45
Premarital Screening Program for Congenital Factor XIII Deficiency in Iran. 61
32776739 2020
46
Factor XIII Deficiency with a Novel Nonsense Mutation. 61
32647443 2020
47
Gynecological and obstetric outcome in the French cohort of women with factor XIII deficiency. 61
32360976 2020
48
Autoimmune factor XIII deficiency with unusual laboratory and clinical phenotype. 61
32311817 2020
49
Dental Management of Factor XIII Deficiency Patients: A Case Series. 61
32903982 2020
50
Concurrent hematoma and venous thrombosis in a patient with autoimmune acquired factor XIII deficiency. 61
31132215 2020
Sources

Variations for Factor Xiii Deficiency

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ClinVar genetic disease variations for Factor Xiii Deficiency:

6 (show top 50) (show all 145)
# 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
2 F13B F13B, 1-BP DEL, IVS1AS, A, -2 Deletion Pathogenic 16518
3 F13B NM_001994.2(F13B):c.1349G>T (p.Cys450Phe) SNV Pathogenic 16519 rs121913075 1:197024850-197024850 1:197055720-197055720
4 F13B F13B, 3-BP INS, AAC Insertion Pathogenic 16521
5 F13B NM_001994.2(F13B):c.1498del (p.Glu500fs) Deletion Pathogenic 16522 rs797044453 1:197021821-197021821 1:197052691-197052691
6 F13A1 F13A1, 2-BP DEL, 210AG Deletion Pathogenic 16523
7 F13A1 NM_000129.3(F13A1):c.2045G>A (p.Arg682His) SNV Pathogenic 16524 rs121913064 6:6152046-6152046 6:6151813-6151813
8 F13A1 NM_000129.3(F13A1):c.514C>T (p.Arg172Ter) SNV Pathogenic 16525 rs121913065 6:6266848-6266848 6:6266615-6266615
9 F13A1 NM_000129.3(F13A1):c.1326C>A (p.Tyr442Ter) SNV Pathogenic 16526 rs121913066 6:6182354-6182354 6:6182121-6182121
10 F13A1 NM_000129.3(F13A1):c.183C>A (p.Asn61Lys) SNV Pathogenic 16527 rs121913067 6:6305720-6305720 6:6305487-6305487
11 F13A1 NM_000129.3(F13A1):c.1504G>A (p.Gly502Arg) SNV Pathogenic 16528 rs121913068 6:6175056-6175056 6:6174823-6174823
12 F13A1 NM_000129.3(F13A1):c.1687G>A (p.Gly563Arg) SNV Pathogenic 16529 rs121913069 6:6174873-6174873 6:6174640-6174640
13 F13A1 NM_000129.3(F13A1):c.1243G>T (p.Val415Phe) SNV Pathogenic 16530 rs121913070 6:6196092-6196092 6:6195859-6195859
14 F13A1 NM_000129.3(F13A1):c.980G>A (p.Arg327Gln) SNV Pathogenic 16533 rs121913072 6:6222398-6222398 6:6222165-6222165
15 F13A1 NM_000129.3(F13A1):c.949G>T (p.Val317Phe) SNV Pathogenic 16534 rs121913073 6:6224943-6224943 6:6224710-6224710
16 F13A1 NM_000129.3(F13A1):c.851A>G (p.Tyr284Cys) SNV Pathogenic 16535 rs121913074 6:6225041-6225041 6:6224808-6224808
17 F13A1 F13A1, 1-BP INS, 1286C Insertion Pathogenic 16536
18 F13A1 NM_000129.4(F13A1):c.691-1G>A SNV Pathogenic 16537 rs372296352 6:6248653-6248653 6:6248420-6248420
19 F13A1 NM_000129.3(F13A1):c.2110C>T (p.Arg704Trp) SNV Pathogenic 16538 rs267606787 6:6145941-6145941 6:6145708-6145708
20 F13A1 NM_000129.3(F13A1):c.1984C>T (p.Arg662Ter) SNV Pathogenic 16539 rs267606789 6:6152107-6152107 6:6151874-6151874
21 F13A1 NM_000129.3(F13A1):c.728T>C (p.Met243Thr) SNV Pathogenic 16540 rs267606788 6:6248615-6248615 6:6248382-6248382
22 F13A1 NM_000129.3:c.603_606delAAGA Microsatellite Pathogenic 29694 rs1416626948 6:6251128-6251131 6:6250895-6250898
23 F13A1 NM_000129.3(F13A1):c.-19+12= SNV Pathogenic 29695 rs2815822 6:6320808-6320808 6:6320575-6320575
24 F13A1 NM_000129.3(F13A1):c.1817del (p.His606fs) Deletion Pathogenic 617620 rs1561641262 6:6167782-6167782 6:6167549-6167549
25 F13A1 NM_000129.3(F13A1):c.1352_1353del (p.His451fs) Deletion Likely pathogenic 561177 rs1561645895 6:6182327-6182328 6:6182094-6182095
26 F13A1 NM_000129.3(F13A1):c.233G>T (p.Arg78Leu) SNV Likely pathogenic 627038 rs768024997 6:6305670-6305670 6:6305437-6305437
27 F13A1 NM_000129.3(F13A1):c.888C>G (p.Ser296Arg) SNV Likely pathogenic 627157 rs778181928 6:6225004-6225004 6:6224771-6224771
28 F13A1 NM_000129.3(F13A1):c.1804C>T (p.Gln602Ter) SNV Likely pathogenic 627260 rs757172838 6:6167795-6167795 6:6167562-6167562
29 F13A1 NM_000129.3(F13A1):c.1777G>A (p.Gly593Ser) SNV Conflicting interpretations of pathogenicity 627022 rs138754417 6:6167822-6167822 6:6167589-6167589
30 F13A1 NM_000129.4(F13A1):c.1492G>T (p.Ala498Ser) SNV Uncertain significance 911738 6:6175068-6175068 6:6174835-6174835
31 F13A1 NM_000129.4(F13A1):c.1032T>C (p.Asp344=) SNV Uncertain significance 714287 rs142274716 6:6222346-6222346 6:6222113-6222113
32 F13B NM_001994.2(F13B):c.1163A>T (p.Glu388Val) SNV Uncertain significance 294576 rs5991 1:197026151-197026151 1:197057021-197057021
33 F13B NM_001994.2(F13B):c.1815C>T (p.His605=) SNV Uncertain significance 294570 rs375961962 1:197009789-197009789 1:197040659-197040659
34 F13B NM_001994.2(F13B):c.645_647del (p.Leu216del) Deletion Uncertain significance 294585 rs750927097 1:197029654-197029656 1:197060524-197060526
35 F13B NM_001994.2(F13B):c.354C>T (p.Cys118=) SNV Uncertain significance 294587 rs142562955 1:197031011-197031011 1:197061881-197061881
36 F13B NM_001994.3(F13B):c.1106T>C (p.Leu369Pro) SNV Uncertain significance 873766 1:197026208-197026208 1:197057078-197057078
37 F13B NM_001994.3(F13B):c.1049A>G (p.His350Arg) SNV Uncertain significance 717818 rs5999 1:197026265-197026265 1:197057135-197057135
38 F13B NM_001994.3(F13B):c.889A>C (p.Ile297Leu) SNV Uncertain significance 874719 1:197026512-197026512 1:197057382-197057382
39 F13B NM_001994.3(F13B):c.874T>G (p.Tyr292Asp) SNV Uncertain significance 874720 1:197026527-197026527 1:197057397-197057397
40 F13B NM_001994.3(F13B):c.815A>G (p.Asn272Ser) SNV Uncertain significance 874721 1:197026586-197026586 1:197057456-197057456
41 F13B NM_001994.3(F13B):c.765C>T (p.Cys255=) SNV Uncertain significance 787218 rs5994 1:197029536-197029536 1:197060406-197060406
42 F13B NM_001994.3(F13B):c.675T>A (p.His225Gln) SNV Uncertain significance 874722 1:197029626-197029626 1:197060496-197060496
43 F13B NM_001994.3(F13B):c.1935A>T (p.Arg645Ser) SNV Uncertain significance 875613 1:197009669-197009669 1:197040539-197040539
44 F13B NM_001994.3(F13B):c.1877A>G (p.Tyr626Cys) SNV Uncertain significance 875614 1:197009727-197009727 1:197040597-197040597
45 F13B NM_001994.3(F13B):c.224C>T (p.Thr75Met) SNV Uncertain significance 875659 1:197032028-197032028 1:197062898-197062898
46 F13B NM_001994.3(F13B):c.96T>C (p.Asn32=) SNV Uncertain significance 875660 1:197032156-197032156 1:197063026-197063026
47 F13B NM_001994.3(F13B):c.1586T>C (p.Leu529Pro) SNV Uncertain significance 717817 rs17549671 1:197019979-197019979 1:197050849-197050849
48 F13B NM_001994.3(F13B):c.1317C>T (p.Cys439=) SNV Uncertain significance 876610 1:197024882-197024882 1:197055752-197055752
49 F13B NM_001994.3(F13B):c.1257C>A (p.Ser419=) SNV Uncertain significance 876611 1:197024942-197024942 1:197055812-197055812
50 F13B NM_001994.3(F13B):c.1228G>A (p.Gly410Arg) SNV Uncertain significance 876612 1:197024971-197024971 1:197055841-197055841
Sources

Expression for Factor Xiii Deficiency

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

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
 12.97 VWF SERPINF2 SERPINE1 SERPINC1 F8 F7
2
Collagen chain trimerization 65
Show member pathways
 12.64 SERPINC1 F8 F7 F5 F3 F2
3
Formation of Fibrin Clot (Clotting Cascade) 65
Show member pathways
 11.9 VWF SERPINF2 SERPINE1 SERPINC1 F8 F7
4
Complement and coagulation cascades 36 1
11.56 VWF SERPINF2 SERPINE1 SERPINC1 F8 F7
5
Warfarin Pathway, Pharmacodynamics 60
10.54 F7 F2
6
Dissolution of Fibrin Clot 65
10.44 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:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.96 VWF SERPINF2 SERPINE1 SERPINC1 F8 F7
2 extracellular region GO:0005576 9.93 VWF SERPINF2 SERPINE1 SERPINC1 F8 F7
3 endoplasmic reticulum lumen GO:0005788 9.72 SERPINC1 F8 F7 F5 F2
4 blood microparticle GO:0072562 9.71 SERPINF2 SERPINC1 F2 F13A1
5 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.61 MCFD2 F8 F5
6 collagen-containing extracellular matrix GO:0062023 9.56 VWF SERPINF2 SERPINE1 SERPINC1 F7 F3
7 platelet alpha granule GO:0031091 9.46 VWF F5
8 serine-type peptidase complex GO:1905286 9.37 F7 F3
9 platelet alpha granule lumen GO:0031093 9.1 VWF SERPINF2 SERPINE1 F8 F5 F13A1

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 9.8 MCFD2 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 acute-phase response GO:0006953 9.65 SERPINF2 F8 F2
8 hemostasis GO:0007599 9.65 VWF SERPINC1 F8 F7 F5 F3
9 blood coagulation, intrinsic pathway GO:0007597 9.63 VWF F8 F2
10 fibrinolysis GO:0042730 9.62 SERPINF2 SERPINE1 F2 CPB2
11 positive regulation of blood coagulation GO:0030194 9.61 SERPINE1 F7 F2
12 positive regulation of collagen biosynthetic process GO:0032967 9.58 SERPINF2 F2
13 regulation of blood coagulation GO:0030193 9.55 SERPINC1 F2
14 positive regulation of positive chemotaxis GO:0050927 9.54 F7 F3
15 negative regulation of plasminogen activation GO:0010757 9.54 SERPINF2 SERPINE1 CPB2
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 9.32 VWF SERPINC1 F8 F7 F5 F3

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

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 9.43 F7 F3 F2
2 peptidase inhibitor activity GO:0030414 9.33 SERPINF2 SERPINE1 SERPINC1
3 serine-type endopeptidase inhibitor activity GO:0004867 9.13 SERPINF2 SERPINE1 SERPINC1
4 protease binding GO:0002020 9.02 VWF SERPINF2 SERPINE1 SERPINC1 F3
Sources

Sources for Factor Xiii Deficiency

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
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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