DYSFIBRIN
MCID: DYS165
MIFTS: 51

Dysfibrinogenemia, Congenital (DYSFIBRIN)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Dysfibrinogenemia, Congenital

MalaCards integrated aliases for Dysfibrinogenemia, Congenital:

Name: Dysfibrinogenemia, Congenital 57 73 29 6 39
Hypodysfibrinogenemia 57 74 6 71
Hypodysfibrinogenemia, Congenital 57 73 6
Dysfibrinogenemia 20 54 6
Familial Dysfibrinogenemia 20 58
Blood Coagulation Disorders, Inherited 44
Familial Hypodysfibrinogenemia 58
Congenital Dysfibrinogenemia 20
Dysfibrinogenemia, Familial 20
Dysfibrin 73

Characteristics:

Orphanet epidemiological data:

58
familial dysfibrinogenemia
Inheritance: Autosomal dominant; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

OMIM® 57 616004
MeSH 44 D025861
ICD10 via Orphanet 33 D68.2
UMLS via Orphanet 72 C0272350
MedGen 41 C0272350
UMLS 71 C0472803

Summaries for Dysfibrinogenemia, Congenital

GARD : 20 Dysfibrinogenemia is a coagulation (clotting) disorder characterized by having an abnormal form of fibrinogen. Fibrinogen is a protein produced by the liver which helps control bleeding by helping blood clots to form. Having abnormal fibrinogen results in defective clot formation and can cause an increased or decreased ability to clot. Dysfibrinogenemias may be inherited (congenital) or acquired. Congenital dysfibrinogenemia is rare. About 40% of people with this form have no symptoms. About 50% have a bleeding disorder, and the remaining 10% have either a thrombotic disorder (excessive clotting) or both bleeding and thrombotic disorders. Congenital dysfibrinogenemias may be caused by mutations in the FGA, FGB or FGG genes. Inheritance is most often autosomal dominant or codominant, but can also be autosomal recessive. Whether a person has no symptoms, a bleeding tendency, or an increased risk of thrombosis depends on the effect of their specific mutation(s). Most people with dysfibrinogenemia have no symptoms and don't need treatment. For the remainder, treatment is individualized and depends on the symptoms and severity in each person. Acquired dysfibrinogenemia is more common than the congenital form and is associated with liver disease such as cirrhosis, liver tumors, or hepatitis.

MalaCards based summary : Dysfibrinogenemia, Congenital, also known as hypodysfibrinogenemia, is related to afibrinogenemia, congenital and chronic thromboembolic pulmonary hypertension. An important gene associated with Dysfibrinogenemia, Congenital is FGB (Fibrinogen Beta Chain), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Factor VIII and Warfarin have been mentioned in the context of this disorder. Affiliated tissues include liver, and related phenotypes are gastrointestinal hemorrhage and epistaxis

OMIM® : 57 Inherited disorders of fibrinogen affect either the quantity (afibrinogenemia and hypofibrinogenemia; 202400) or the quality (dysfibrinogenemia) of the circulating fibrinogen, or both (hypodysfibrinogenemia). Patients with dysfibrinogenemia are frequently asymptomatic, but some patients have bleeding diathesis, thromboembolic complications, or both (summary by de Moerloose and Neerman-Arbez, 2009). Reports (e.g., Haverkate and Samama, 1995) on approximately 350 families with dysfibrinogenemia revealed that approximately half of cases are clinically silent, a quarter show a tendency toward bleeding, and another quarter show a predisposition for thrombosis with or without bleeding (summary by Lefebvre et al., 2004). (616004) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Dysfibrinogenemia, congenital: A disorder characterized by qualitative abnormalities (dysfibrinogenemia) of the circulating fibrinogen. Affected individuals are frequently asymptomatic, but some patients have bleeding diathesis, thromboembolic complications, or both. In some cases, dysfibrinogenemia is associated with low circulating fibrinogen levels (hypodysfibrinogenemia).

Wikipedia : 74 Hypodysfibrinogenemia, also termed congenital hypodysfibrinogenemia, is a rare hereditary fibrinogen... more...

Related Diseases for Dysfibrinogenemia, Congenital

Diseases related to Dysfibrinogenemia, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 189)
# Related Disease Score Top Affiliating Genes
1 afibrinogenemia, congenital 30.2 SERPINC1 PLAT FGG FGB FGA F2
2 chronic thromboembolic pulmonary hypertension 30.1 FGB FGA
3 thoracic outlet syndrome 29.8 SERPINC1 F2
4 placenta disease 29.6 SERPINC1 F5 F2
5 factor vii deficiency 29.5 SERPINC1 F2
6 hemophilia b 29.5 SERPINC1 FGA F2
7 prothrombin deficiency, congenital 29.5 SERPINC1 F5 F2
8 sagittal sinus thrombosis 29.5 SERPINC1 F5 F2
9 sneddon syndrome 29.4 SERPINC1 F5 F2
10 placental abruption 29.4 THBD SERPINC1 F5 F2
11 eclampsia 29.4 THBD SERPINC1 F2
12 von willebrand's disease 29.2 PLAT F2
13 carotid artery occlusion 29.2 THBD PLAT F5
14 protein c deficiency 29.0 THBD SERPINC1 F5 F2
15 thrombophlebitis 28.8 SERPINC1 PLAT F5 F2
16 protein s deficiency 28.8 THBD SERPINC1 FGA F5 F2
17 intracranial thrombosis 28.7 SERPINC1 PLAT FGA F5 F2
18 disseminated intravascular coagulation 28.4 THBD SERPINC1 PLAT FGA F5 F2
19 pulmonary hypertension 28.4 THBD SERPINC1 PLAT FGA F2
20 antiphospholipid syndrome 28.4 THBD SERPINC1 PLAT F5 F2
21 blood coagulation disease 28.1 THBD SERPIND1 SERPINC1 PLAT F5 F2
22 pulmonary embolism 27.8 THBD SERPINC1 PLAT FGB F5 F2
23 thrombocytopenia 27.8 THBD SERPINC1 PLAT FGG FGA F5
24 thrombophilia due to thrombin defect 27.8 THBD SERPINC1 PLAT FGA F5 F2
25 vascular disease 27.7 THBD SERPINC1 PLAT FGA F5 F2
26 thrombosis 27.5 THBD SERPIND1 SERPINC1 PLAT FGG FGB
27 thrombophilia 27.4 THBD SERPIND1 SERPINC1 PLAT FGG FGB
28 hemorrhagic disease 27.2 THBD SERPINC1 PLAT FGG FGB FGA
29 leech infestation 10.2 SERPIND1 SERPINC1
30 sticky platelet syndrome 10.2 SERPINC1 F5
31 heparin cofactor ii deficiency 10.1 SERPIND1 SERPINC1
32 femoral vein thrombophlebitis 10.1 FGG F2
33 fibrinogen deficiency, congenital 10.1 FGG FGB FGA
34 prothrombin deficiency 10.1 SERPINC1 F2
35 lateral sinus thrombosis 10.1 SERPINC1 F2
36 giant hemangioma 10.1 SERPINC1 F2
37 factor xii deficiency 10.1 SERPINC1 F5
38 dic in newborn 10.1 SERPINC1 F2
39 waterhouse-friderichsen syndrome 10.1 SERPINC1 F2
40 cavernous sinus thrombosis 10.1 SERPINC1 F2
41 paracetamol poisoning 10.1 F5 F2
42 arteritic anterior ischemic optic neuropathy 10.1 F5 F2
43 hepatic infarction 10.1 SERPINC1 F2
44 livedoid vasculitis 10.0 SERPINC1 F2
45 intracranial sinus thrombosis 10.0 SERPINC1 F2
46 abducens nerve disease 10.0 SERPINC1 F2
47 aspirin resistance 10.0 F5 F2
48 cholesterol embolism 10.0 SERPINC1 F2
49 sudden sensorineural hearing loss 10.0 F5 F2
50 intracranial hypotension 10.0 SERPINC1 F2

Graphical network of the top 20 diseases related to Dysfibrinogenemia, Congenital:



Diseases related to Dysfibrinogenemia, Congenital

Symptoms & Phenotypes for Dysfibrinogenemia, Congenital

Human phenotypes related to Dysfibrinogenemia, Congenital:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gastrointestinal hemorrhage 58 31 hallmark (90%) Very frequent (99-80%) HP:0002239
2 epistaxis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000421
3 gingival bleeding 58 31 hallmark (90%) Very frequent (99-80%) HP:0000225
4 venous thrombosis 58 31 frequent (33%) Frequent (79-30%) HP:0004936
5 abnormal bleeding 58 Very frequent (99-80%)

Clinical features from OMIM®:

616004 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Dysfibrinogenemia, Congenital:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.13 F13A1 F2 F5 FGA FGB FGG
2 homeostasis/metabolism MP:0005376 10.02 F13A1 F2 F5 FGA FGB FGG
3 hematopoietic system MP:0005397 9.97 F13A1 FGA FGB FGG PLAT SERPINC1
4 embryo MP:0005380 9.95 F2 F5 FGA FGB FGG SERPINC1
5 mortality/aging MP:0010768 9.85 F13A1 F2 F5 FGA FGB FGG
6 integument MP:0010771 9.73 F13A1 F2 F5 FGA PLAT THBD
7 reproductive system MP:0005389 9.5 F13A1 F2 FGA FGG PLAT SERPINC1
8 respiratory system MP:0005388 9.02 F13A1 F2 FGG PLAT THBD

Drugs & Therapeutics for Dysfibrinogenemia, Congenital

Drugs for Dysfibrinogenemia, Congenital (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Factor VIII Phase 1, Phase 2
2
Warfarin Approved 81-81-2 6691 54678486
3
Thrombin Approved, Investigational
4 Anticoagulants
5 Hemostatics
6 Immunoglobulins
7 Antibodies
8 Antibodies, Blocking

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dose-finding Study of SPK-8016 Gene Therapy in Patients With Hemophilia A to Support Evaluation in Individuals With FVIII Inhibitors Active, not recruiting NCT03734588 Phase 1, Phase 2
2 Education Program for Patients Receiving Oral Anticoagulation Unknown status NCT01339611
3 Evaluation of Hemostasis in Bleeding and Thrombotic Disorders Using the Roteg Analyzer and the Thrombin Generation Assay Recruiting NCT00178594
4 Screening/Observational Protocol to Determine Patient Eligibility for Inclusion in AAV Gene Therapy Clinical Trials (ECLIPSE) Recruiting NCT04272554
5 A Multi-Center, Observational Study in Males With Hemophilia A Active, not recruiting NCT03876301 Standard of Care FVIII Replacement therapy

Search NIH Clinical Center for Dysfibrinogenemia, Congenital

Cochrane evidence based reviews: blood coagulation disorders, inherited

Genetic Tests for Dysfibrinogenemia, Congenital

Genetic tests related to Dysfibrinogenemia, Congenital:

# Genetic test Affiliating Genes
1 Dysfibrinogenemia, Congenital 29 FGA FGB FGG

Anatomical Context for Dysfibrinogenemia, Congenital

MalaCards organs/tissues related to Dysfibrinogenemia, Congenital:

40
Liver

Publications for Dysfibrinogenemia, Congenital

Articles related to Dysfibrinogenemia, Congenital:

(show top 50) (show all 115)
# Title Authors PMID Year
1
Fibrinogen Philadelphia, a hypodysfibrinogenemia characterized by abnormal polymerization and fibrinogen hypercatabolism due to gamma S378P mutation. 61 6 57
15632207 2005
2
Severe hypodysfibrinogenemia in compound heterozygotes of the fibrinogen AalphaIVS4 + 1G>T mutation and an AalphaGln328 truncation (fibrinogen Keokuk). 61 57 6
14615374 2004
3
Fibrinogen Philadelphia. A hereditary hypodysfibrinogenemia characterized by fibrinogen hypercatabolism. 6 57 61
11344575 1974
4
The fibrinogen Aalpha R16C mutation results in fibrinolytic resistance. 6 57
16846481 2006
5
A database for human fibrinogen variants. 6 57
11460527 2001
6
Congenital fibrinogen disorders. 61 57
19598064 2009
7
The molecular basis of quantitative fibrinogen disorders. 57 61
16999847 2006
8
Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen. 61 57
7740487 1995
9
Fibrinogen Milano XII: a dysfunctional variant containing 2 amino acid substitutions, Aalpha R16C and gamma G165R. 6
11435303 2001
10
Inherited dysfibrinogenemia: emerging abnormal structure associations with pathologic and nonpathologic dysfunctions. 6
8140431 1993
11
Molecular basis of fibrinogen Naples associated with defective thrombin binding and thrombophilia. Homozygous substitution of B beta 68 Ala----Thr. 57
1634610 1992
12
Fibrinogen Ledyard (A alpha Arg16----Cys): biochemical and physiologic characterization. 6
1912564 1991
13
Fibrinogen Baltimore I: polymerization defect associated with a gamma 292Gly----Val (GGC----GTC) mutation. 57
2257302 1990
14
Fibrinogen Stony Brook, a heterozygous A alpha 16Arg----Cys dysfibrinogenemia. Evaluation of diminished platelet aggregation support and of enhanced inhibition of fibrin assembly. 6
2738154 1989
15
Fibrinogen Birmingham: a heterozygous dysfibrinogenemia (A alpha 16 Arg----His) containing heterodimeric molecules. 6
3345340 1988
16
Fibrinogen giessen I: a congenital homozygously expressed dysfibrinogenemia with A alpha 16 Arg----His substitution. 6
3618591 1987
17
Fibrinogens Kawaguchi and Osaka: an amino acid substitution of A alpha arginine-16 to cysteine which forms an extra interchain disulfide bridge between the two A alpha chains. 6
3667568 1987
18
Fibrinogen Bergamo III and fibrinogen Torino: two further variants with hereditary molecular defects in fibrinopeptide A. 6
3590111 1987
19
Fibrinogen Manchester. Detection of a heterozygous phenotype in the intraplatelet pool. 6
4052020 1985
20
Fibrinogen Bergamo I (A alpha 16Arg----Cys): susceptibility towards thrombin following aminoethylation, methylation or carboxamidomethylation of cysteine residues. 6
4082078 1985
21
Novel structure elucidation strategy for genetically abnormal fibrinogens with incomplete fibrinopeptide release as applied to fibrinogen Schwarzach. 6
6667926 1983
22
Plasminogen Paris I: congenital abnormal plasminogen and its incidence in thrombosis. 57
6658714 1983
23
Hereditary dysfibrinogenemia in a patient with thrombotic disease. 6
6191801 1983
24
Fibrinogen Petoskey, a dysfibrinogenemia characterized by replacement of Arg-A alpha 16 by a histidyl residue. Evidence for thrombin-catalyzed hydrolysis at a histidyl residue. 6
7298640 1981
25
Fibrinogen Troyes--fibrinogen Metz. Two new cases of congenital dysfibrinogenemia. 57
4662617 1972
26
Fibrinogen Detroit--a molecular defect in the N-terminal disulphide knot of human fibrinogen? 57
5645286 1968
27
A new inherited coagulation disorder caused by an abnormal fibrinogen ('fibrinogen Baltimore'). 57
4956920 1965
28
Venous Thrombosis and Thrombocyte Activity in Zebrafish Models of Quantitative and Qualitative Fibrinogen Disorders. 61
33440782 2021
29
Fibrin clot properties to assess the bleeding phenotype in unrelated patients with hypodysfibrinogenemia due to novel fibrinogen mutations. 61
33186848 2021
30
Congenital fibrinogen disorder with a compound heterozygote possessing two novel FGB mutations, one qualitative and the other quantitative. 61
32871307 2020
31
Congenital fibrinogen disorder caused by digenic mutations of the FGA and FGB genes. 61
32228225 2020
32
A rare heterozygous variant in FGB (Fibrinogen Merivale) causing hypofibrinogenemia in a Swedish family. 61
32852326 2020
33
Screening method for congenital dysfibrinogenemia using clot waveform analysis with the Clauss method. 61
33030793 2020
34
Mutations in inherited fibrinogen disorders correlated with clinical features in the Chinese population. 61
32939696 2020
35
Heterozygous variant fibrinogen γA289V (Kanazawa III) was confirmed as hypodysfibrinogenemia by plasma and recombinant fibrinogens. 61
31957968 2020
36
Combined Congenital Hypodysfibrinogemia and Factor XI Deficiency in a Chinese Family. 61
31982874 2020
37
Congenital structural and functional fibrinogen disorders: a primer for internists. 61
31797863 2019
38
Genetic and clinical characterization of congenital fibrinogen disorders in Polish patients: Identification of three novel fibrinogen gamma chain mutations. 61
31479941 2019
39
Risk of bleeding and thrombosis in inherited qualitative fibrinogen disorders. 61
31314131 2019
40
Fibrinogen Columbus II: A novel c.1075G>T mutation in the FGG gene causing hypodysfibrinogenemia and thrombosis in an adolescent male. 61
31131962 2019
41
Recurrent superficial venous thrombophlebitis because of mutations in the protein C and fibrinogen genes in a young Argentinian female. 61
30632992 2019
42
Clot waveform analysis in Clauss fibrinogen assay contributes to classification of fibrinogen disorders. 61
30584960 2019
43
Congenital hypodysfibrinogenemia associated with a novel deletion of three residues (γAla289_Asp291del) in fibrinogen. 61
29748775 2018
44
Clinical and molecular characterization of nine Chinese patients affected by hypofibrinogenemia or dysfibrinogenemia. 61
29351094 2018
45
Fibrinogen Mahdia: A congenitally abnormal fibrinogen characterized by defective fibrin polymerization. 61
28594476 2017
46
Genetics, diagnosis and clinical features of congenital hypodysfibrinogenemia: a systematic literature review and report of a novel mutation. 61
28211264 2017
47
A novel fibrinogen mutation: FGA g. 3057 C > T (p. Arg104 > Cys) impairs fibrinogen secretion. 61
29299315 2017
48
Hypodysfibrinogenemia with a Heterozygous Mutation of γCys326Ser by the Novel Transversion of TGT to TCT in a Patient with Pulmonary Thromboembolism and Right Ventricular Thrombus. 61
28419986 2017
49
Genetic analyses of novel compound heterozygous hypodysfibrinogenemia, Tsukuba I: FGG c.1129+62_65 del AATA and FGG c.1299+4 del A. 61
27837696 2016
50
Hypodysfibrinogenemia: A novel abnormal fibrinogen associated with bleeding and thrombotic complications. 61
27343352 2016

Variations for Dysfibrinogenemia, Congenital

ClinVar genetic disease variations for Dysfibrinogenemia, Congenital:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FGA NM_000508.3(FGA):c.103C>T (p.Arg35Cys) SNV Pathogenic 16399 rs121909606 4:155510666-155510666 4:154589514-154589514
2 FGA NM_021871.4(FGA):c.510+1G>T SNV Pathogenic 16415 rs146387238 4:155508663-155508663 4:154587511-154587511
3 FGB NM_005141.4(FGB):c.679T>C (p.Cys227Arg) SNV Pathogenic 800648 rs1578783532 4:155488933-155488933 4:154567781-154567781
4 FGA NM_021871.4(FGA):c.104G>A (p.Arg35His) SNV Pathogenic 16404 rs121909607 4:155510665-155510665 4:154589513-154589513
5 FGG NM_021870.3(FGG):c.1210T>C (p.Ser404Pro) SNV Pathogenic 156105 rs587777720 4:155526138-155526138 4:154604986-154604986
6 FGB NM_005141.5(FGB):c.490+1G>C SNV Likely pathogenic 981156 4:155487825-155487825 4:154566673-154566673

UniProtKB/Swiss-Prot genetic disease variations for Dysfibrinogenemia, Congenital:

73
# Symbol AA change Variation ID SNP ID
1 FGA p.Arg35Cys VAR_002392 rs121909606
2 FGA p.Arg573Cys VAR_002401 rs121909613
3 FGB p.Ala98Thr VAR_002406 rs121909620
4 FGG p.Arg301His VAR_002410 rs121913088
5 FGG p.Gly318Val VAR_002411 rs121913089
6 FGG p.Asp356Val VAR_002418 rs121913094
7 FGG p.Ser404Pro VAR_072621 rs587777720

Expression for Dysfibrinogenemia, Congenital

Search GEO for disease gene expression data for Dysfibrinogenemia, Congenital.

Pathways for Dysfibrinogenemia, Congenital

Pathways related to Dysfibrinogenemia, Congenital according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.93 THBD SERPIND1 SERPINC1 PLAT FGG FGB
2
Show member pathways
12.59 THBD SERPINC1 FGG FGB FGA F5
3
Show member pathways
12.52 FGG FGB FGA F2
4
Show member pathways
11.99 FGG FGB FGA
5
Show member pathways
11.86 FGG FGB FGA
6
Show member pathways
11.86 THBD SERPIND1 SERPINC1 PLAT FGG FGB
7 11.83 FGG FGB FGA F2
8
Show member pathways
11.79 FGG FGB FGA
9
Show member pathways
11.7 FGG FGB FGA F2
10 11.48 THBD SERPIND1 SERPINC1 PLAT FGG FGB
11 11.38 FGG FGB FGA F2
12 11.31 PLAT FGG FGB FGA

GO Terms for Dysfibrinogenemia, Congenital

Cellular components related to Dysfibrinogenemia, Congenital according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.09 SERPIND1 SERPINC1 PLAT FGG FGB FGA
2 extracellular exosome GO:0070062 10.04 SERPIND1 SERPINC1 PLAT FGG FGB FGA
3 extracellular space GO:0005615 10.02 THBD SERPIND1 SERPINC1 PLAT FGG FGB
4 cell surface GO:0009986 9.88 THBD PLAT FGG FGB FGA
5 external side of plasma membrane GO:0009897 9.85 THBD FGG FGB FGA F2
6 endoplasmic reticulum lumen GO:0005788 9.8 SERPIND1 SERPINC1 FGG FGA F5 F2
7 extracellular vesicle GO:1903561 9.69 FGB FGA F5
8 platelet alpha granule lumen GO:0031093 9.65 FGG FGB FGA F5 F13A1
9 fibrinogen complex GO:0005577 9.58 FGG FGB FGA
10 collagen-containing extracellular matrix GO:0062023 9.5 SERPINC1 PLAT FGG FGB FGA F2
11 platelet alpha granule GO:0031091 9.46 FGG FGB FGA F5
12 blood microparticle GO:0072562 9.1 SERPINC1 FGG FGB FGA F2 F13A1

Biological processes related to Dysfibrinogenemia, Congenital according to GeneCards Suite gene sharing:

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.92 SERPIND1 SERPINC1 FGG FGA F5
2 cellular protein metabolic process GO:0044267 9.85 SERPIND1 SERPINC1 FGG FGA F5 F2
3 extracellular matrix organization GO:0030198 9.82 FGG FGB FGA
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.82 FGG FGB FGA
5 cell-matrix adhesion GO:0007160 9.8 FGG FGB FGA
6 platelet activation GO:0030168 9.8 FGG FGB FGA F2
7 platelet degranulation GO:0002576 9.8 FGG FGB FGA F5 F13A1
8 response to calcium ion GO:0051592 9.78 FGG FGB FGA
9 positive regulation of protein secretion GO:0050714 9.77 FGG FGB FGA
10 toll-like receptor signaling pathway GO:0002224 9.77 FGG FGB FGA
11 platelet aggregation GO:0070527 9.76 FGG FGB FGA
12 positive regulation of substrate adhesion-dependent cell spreading GO:1900026 9.75 FGG FGB FGA
13 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.74 FGG FGB FGA
14 negative regulation of endothelial cell apoptotic process GO:2000352 9.73 FGG FGB FGA
15 positive regulation of vasoconstriction GO:0045907 9.72 FGG FGB FGA
16 positive regulation of exocytosis GO:0045921 9.71 FGG FGB FGA
17 cellular protein-containing complex assembly GO:0034622 9.69 FGG FGB FGA
18 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.65 FGG FGB FGA
19 negative regulation of proteolysis GO:0045861 9.64 PLAT F2
20 regulation of blood coagulation GO:0030193 9.63 SERPINC1 F2
21 negative regulation of fibrinolysis GO:0051918 9.63 THBD F2
22 protein polymerization GO:0051258 9.63 FGG FGB FGA
23 negative regulation of platelet activation GO:0010544 9.62 THBD F2
24 plasminogen activation GO:0031639 9.62 PLAT FGG FGB FGA
25 induction of bacterial agglutination GO:0043152 9.61 FGB FGA
26 positive regulation of peptide hormone secretion GO:0090277 9.61 FGG FGB FGA
27 hemostasis GO:0007599 9.61 THBD SERPIND1 SERPINC1 FGG FGB FGA
28 blood coagulation, fibrin clot formation GO:0072378 9.56 FGG FGB FGA F13A1
29 fibrinolysis GO:0042730 9.55 PLAT FGG FGB FGA F2
30 blood coagulation GO:0007596 9.32 THBD SERPIND1 SERPINC1 PLAT FGG FGB

Molecular functions related to Dysfibrinogenemia, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.5 FGG FGB FGA
2 heparin binding GO:0008201 9.43 SERPIND1 SERPINC1 F2
3 extracellular matrix structural constituent GO:0005201 9.33 FGG FGB FGA
4 cell adhesion molecule binding GO:0050839 9.13 FGG FGB FGA
5 signaling receptor binding GO:0005102 9.02 PLAT FGG FGB FGA F2

Sources for Dysfibrinogenemia, Congenital

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
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