MCID: AFB001
MIFTS: 48

Afibrinogenemia malady

Categories: Rare diseases, Genetic diseases, Blood diseases

Aliases & Classifications for Afibrinogenemia

Aliases & Descriptions for Afibrinogenemia:

Name: Afibrinogenemia 50 29 52 69
Congenital Hypofibrinogenemia 69
Congenital Afibrinogenemia 50
Afibrinogenemia Congenital 50

Classifications:



Summaries for Afibrinogenemia

NIH Rare Diseases : 50 afibrinogenemia, sometimes called congenital afibrinogenemia, is an inherited blood disorder in which the blood does not clot normally. it occurs when there is a lack (deficiency) of a protein called fibrinogen (or coagulation factor i), which is needed for the blood to clot. affected individuals may be susceptible to severe bleeding (hemorrhaging) episodes, particularly during infancy and childhood. afibrinogenemia is thought to be transmitted as an autosomal recessive trait. treatment may include cryoprecipitate (a blood product containing concentrated fibrinogen and other clotting factors), fibrinogen (riastap) or plasma (the liquid portion of the blood which contains clotting factors).  last updated: 5/30/2016

MalaCards based summary : Afibrinogenemia, also known as congenital hypofibrinogenemia, is related to afibrinogenemia, congenital and pericarditis. An important gene associated with Afibrinogenemia is FGB (Fibrinogen Beta Chain), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Hemostatics and Complement Factor I have been mentioned in the context of this disorder. Affiliated tissues include placenta, liver and prostate, and related phenotypes are cardiovascular system and homeostasis/metabolism

Related Diseases for Afibrinogenemia

Diseases in the Afibrinogenemia family:

Afibrinogenemia, Congenital Fga-Related Congenital Afibrinogenemia
Fgb-Related Congenital Afibrinogenemia Fgg-Related Congenital Afibrinogenemia

Diseases related to Afibrinogenemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 160)
id Related Disease Score Top Affiliating Genes
1 afibrinogenemia, congenital 34.0 FGA FGB FGG
2 pericarditis 28.7 F3 F5 PLAT SERPINC1 VWF
3 myocardial infarction 27.5 F10 F11 F2 F3 F5 F8
4 fga-related congenital afibrinogenemia 11.7
5 fgb-related congenital afibrinogenemia 11.7
6 fgg-related congenital afibrinogenemia 11.7
7 dysfibrinogenemia, congenital 10.8
8 citrulline transport defect 10.3 F2 FGA FGB
9 vcl-related familial hypertrophic cardiomyopathy 10.3 F8 VWF
10 vcp-related amyotrophic lateral sclerosis/frontotemporal dementia 10.3 F8 VWF
11 hemarthrosis 10.3 F2 F3
12 headache 10.2 F8 VWF
13 prostatic hypertrophy 10.2 F2 F3 VWF
14 immunodeficiency 21 10.2 F2 FGA VWF
15 arcus senilis 10.2 C3 F11 F3
16 vcl-related dilated cardiomyopathy 10.2 F8 VWF
17 acromegaloid hypertrichosis syndrome 10.2 F11 F8 VWF
18 macular degeneration, age-related, 4 10.2 CD46 CFI
19 congenital insensitivity to pain with severe intellectual disability 10.2 F2 F5
20 spinocerebellar ataxia 27 10.2 F2 F3 F8
21 macular degeneration, age-related, 9 10.2 C3 CD46 CFP
22 nephropathy familial with hyperuricemia 10.1 C3 CD46 CFP
23 pemphigus 10.1 CD46 CR1
24 bronchiolitis 10.1 C3 CD46 CFP
25 high anorectal malformation 10.1 F10 F8 VWF
26 hendra virus infection 10.1 F2 F3 F5
27 pineal region meningioma 10.1 F10 F8 VWF
28 alpha-2-macroglobulin deficiency 10.1 F2 F3 F8 VWF
29 macular degeneration, age-related, 13 10.1 C3 CFI CFP CR1
30 chronic progressive external ophthalmoplegia 10.1 C3 CD46 CFI VWF
31 pyridoxamine 5'-phosphate oxidase deficiency 10.1 F2 F3 F8 VWF
32 dyskinetic cerebral palsy 10.1 F11 F2 F3 F8
33 acro coxo mesomelic dysplasia 10.1 C3 F5
34 spinal cord lipoma 10.1 F2 F3 SERPINC1
35 midline cystocele 10.1 F2 F3 SERPINC1
36 hereditary alpha tryptasemia syndrome 10.1 F2 F3 SERPINC1
37 central retinal artery occlusion 10.1 F2 F3 SERPINC1
38 capillary hemangioma 10.1 F2 F3 SERPINC1
39 lubinsky syndrome 10.1 F2 F5
40 ischemic optic neuropathy 10.1 F2 SERPINC1 VWF
41 sertoli cell tumor 10.1 F3 SERPINC1
42 hemolytic-uremic syndrome 10.0 F2 F3 SERPINC1
43 thyroid cancer, anaplastic 10.0 CD46 F3 F8 VWF
44 thrombosis 10.0
45 pleural disease 10.0 CFP F8 SERPINF2
46 granulomatous hepatitis 10.0 F2 F3 SERPINC1
47 invasive pneumococcal disease, recurrent isolated, 1 10.0 F10 F2 F5
48 pdgfra-associated chronic eosinophilic leukemia 10.0 C3 CFP
49 erythrocytosis, familial, 4 10.0 F5 F8
50 unverricht-lundborg syndrome 10.0 FGB PLAT

Graphical network of the top 20 diseases related to Afibrinogenemia:



Diseases related to Afibrinogenemia

Symptoms & Phenotypes for Afibrinogenemia

MGI Mouse Phenotypes related to Afibrinogenemia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.28 C3 CD46 CFP F10 F11 F2
2 homeostasis/metabolism MP:0005376 10.2 CFP F10 F11 F2 F3 F5
3 hematopoietic system MP:0005397 10.11 F11 F2 F3 F8 FGA FGG
4 immune system MP:0005387 10 PLAT SERPINC1 VWF C3 CFP F11
5 mortality/aging MP:0010768 10 C3 CFP F10 F11 F2 F3
6 nervous system MP:0003631 9.65 C3 F11 F2 F3 F5 FGA
7 reproductive system MP:0005389 9.32 CD46 F10 F2 F8 FGA FGB

Drugs & Therapeutics for Afibrinogenemia

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hemostatics Phase 3,Phase 2
2 Complement Factor I

Interventional clinical trials:

(show all 14)
id Name Status NCT ID Phase
1 Human Fibrinogen Concentrate in Pediatric Cardiac Surgery Recruiting NCT02822599 Phase 4
2 Treatment of Coagulopathy Trauma-induced Guided by Thromboelastography in Politrauma Patients. Recruiting NCT02864875 Phase 4
3 Human Fibrinogen Concentrate (FGTW) in Pediatric Patients With Congenital Fibrinogen Deficiency Completed NCT02094430 Phase 2, Phase 3
4 Haemocomplettan® P During Elective Complex Cardiac Surgery Completed NCT01124981 Phase 2, Phase 3
5 Pharmacokinetic, Efficacy and Safety of BT524 in Patients With Congenital Fibrinogen Deficiency Recruiting NCT02065882 Phase 2, Phase 3
6 Study to Assess the Efficacy, Safety and Pharmacokinetic of Octafibrin in Paediatric Subjects With Fibrinogen Deficiency Recruiting NCT02408484 Phase 3
7 Efficacy and Safety Study of Octafibrin for On-demand Treatment of Acute Bleeding and to Prevent Bleeding During and After Surgery Recruiting NCT02267226 Phase 3
8 FIBrinogen REplenishment in Surgery Recruiting NCT03037424 Phase 3
9 Fibrinogen Concentrate (Human) − Efficacy and Safety Study Withdrawn NCT00916656 Phase 3
10 Pharmacokinetic, Efficacy, and Safety Study of Octafibrin Compared to Haemocomplettan/Riastap Completed NCT01575756 Phase 2
11 Human Fibrinogen - Pharmacokinetics Completed NCT00496262 Phase 2
12 Pharmacokinetics, Efficacy, and Safety of Human Plasma-Derived Fibrinogen (FIB Grifols) in Patients With Congenital Afibrinogenaemia Recruiting NCT02281500 Phase 1, Phase 2
13 RiaSTAP vs. Conventional Transfusion in Patients Having Heart Valve Surgery Terminated NCT01283321 Phase 2
14 An Observational Cohort Study of the Safety and Efficacy of Fibrinogen Concentrate, Human (FCH) in Subjects With Congenital Fibrinogen Deficiency Active, not recruiting NCT02427217

Search NIH Clinical Center for Afibrinogenemia

Genetic Tests for Afibrinogenemia

Genetic tests related to Afibrinogenemia:

id Genetic test Affiliating Genes
1 Afibrinogenemia 29

Anatomical Context for Afibrinogenemia

MalaCards organs/tissues related to Afibrinogenemia:

39
Placenta, Liver, Prostate, Bone, Uterus, Spinal Cord, Lung

Publications for Afibrinogenemia

Articles related to Afibrinogenemia:

(show top 50) (show all 234)
id Title Authors Year
1
Post-authorization safety study of Clottafact(Ar) , a triply secured fibrinogen concentrate in congenital afibrinogenemia. A prospective observational study. ( 27583698 )
2016
2
Fibrinogen Martin: A Novel Mutation in FGB (Gln180Stop) Causing Congenital Afibrinogenemia. ( 27148845 )
2016
3
Congenital afibrinogenemia: from etiopathogenesis to challenging clinical management. ( 27291795 )
2016
4
Severe Thrombotic Complications in Congenital Afibrinogenemia: A Pathophysiological and Management Dilemma. ( 27253088 )
2016
5
A Rare Complication Of Congenital Afibrinogenemia: Bone Cysts. ( 27094883 )
2016
6
Perioperative Coagulation Management in a Patient with Congenital Afibrinogenemia during Revision Total Hip Arthroplasty. ( 27472424 )
2016
7
A novel missense mutation in the FGB gene (p.Gly302Arg) leading to afibrinogenemia. Predicted structure and function consequences. ( 27824214 )
2016
8
Congenital afibrinogenemia: Identification and characterization of two novel homozygous fibrinogen AI+ and BI^ chain mutations in two Tunisian families. ( 27164460 )
2016
9
Congenital afibrinogenemia: a case report of a spontaneous hepatic hematoma. ( 27428204 )
2016
10
Thrombosis of abdominal aorta in congenital afibrinogenemia: case report and review of literature. ( 25421938 )
2015
11
Resolution of fibrinogen deficiency in a patient with congenital afibrinogenemia after liver transplantation. ( 26421965 )
2015
12
Venous thrombosis in afibrinogenemia: a successful use of rivaroxaban. ( 26036982 )
2015
13
Paradoxical bleeding and thrombosis in a patient with afibrinogenemia and fibrinogen mumbai mutation. ( 25873512 )
2015
14
Novel Fibrinogen Bbeta Chain Mutation as an Underlying Mechanism of Afibrinogenemia? ( 26485721 )
2015
15
Yes or no for secondary prophylaxis in afibrinogenemia? ( 26484644 )
2015
16
Umbilical bleeding: a presenting feature for congenital afibrinogenemia. ( 26407137 )
2015
17
Spontaneous splenic rupture in a patient with congenital afibrinogenemia. ( 26078670 )
2014
18
Recurrent myocardial infarction in a case of congenital afibrinogenemia. ( 24949183 )
2014
19
A case of congenital afibrinogenemia complicated with thromboembolic events that required repeated amputations. ( 25255238 )
2014
20
Spontaneous epidural and subdural hematoma in a child with afibrinogenemia and postoperative management. ( 24509337 )
2014
21
Congenital afibrinogenemia in a new born: a rare cause for bleeding. ( 24509333 )
2014
22
Targeted mutation of zebrafish fga models human congenital afibrinogenemia. ( 24553182 )
2014
23
Novel homozygous fibrinogen AI+ chain truncation causes severe afibrinogenemia with life threatening complications in a two-year-old boy. ( 24050829 )
2013
24
Percutaneous coronary intervention in a case of afibrinogenemia. ( 24570509 )
2013
25
Pulmonary embolism in a patient with congenital afibrinogenemia. ( 23855372 )
2013
26
Treatment of afibrinogenemia in a chihuahua. ( 23148136 )
2013
27
Diagnosis and non-surgical periodontal management in congenital afibrinogenemia: report of a rare case. ( 22323341 )
2012
28
Successful ABO-incompatible kidney transplantation in patient with congenital afibrinogenemia. ( 22624802 )
2012
29
Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia. ( 22732251 )
2012
30
Chronic subdural hematoma in a patient with congenital afibrinogenemia successfully treated with fibrinogen replacement. ( 22123482 )
2011
31
Recurrent massive hemoperitoneum due to ovulation as a clinical sign in congenital afibrinogenemia. ( 21241266 )
2011
32
A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family. ( 21245743 )
2011
33
Anaesthetic management of a child with congenital afibrinogenemia - A rare inherited coagulation disorder. ( 22223906 )
2011
34
Thrombotic and hemorrhagic presentation of congenital hypo/afibrinogenemia. ( 20870369 )
2011
35
Successive bleeding and thrombotic complications in a patient with afibrinogenemia: a case report. ( 21496887 )
2011
36
Cellulitis on face in a patient with congenital afibrinogenemia. ( 21521918 )
2011
37
Severe elbow arthropathy in a patient with congenital afibrinogenemia: a case report. ( 20124074 )
2010
38
Is primary prophylaxis required in afibrinogenemia? ( 20598104 )
2010
39
Identification and functional characterization of a novel nonsense mutation in FGA accounting for congenital afibrinogenemia in six Egyptian patients. ( 20051841 )
2010
40
Congenital Afibrinogenemia presenting as antenatal intracranial bleed: a case report. ( 20180944 )
2010
41
Spontaneous intracranial bleeding in a neonate with congenital afibrinogenemia. ( 20445442 )
2010
42
[Genetic analysis of an inherited afibrinogenemia family caused by a novel frameshift mutation in FGA]. ( 19698251 )
2009
43
Spinal cord infarction in congenital afibrinogenemia: a case report and review of the literature. ( 19560685 )
2009
44
A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment. ( 18853456 )
2009
45
A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream. ( 19417632 )
2009
46
Spontaneous extra-axial intracranial hemorrhage followed by thrombosis in congenital afibrinogenemia: perioperative management of this rare combination. ( 18295846 )
2009
47
Severe spontaneous arterial thrombotic manifestations in patients with inherited hypo- and afibrinogenemia. ( 19335753 )
2009
48
Bilateral leukocoria in infant with afibrinogenemia. ( 19668740 )
2008
49
Afibrinogenemia resulting from homozygous nonsense mutation in A alpha chain gene associated with multiple thrombotic episodes. ( 18388508 )
2008
50
Interstitial pregnancy in a woman with congenital afibrinogenemia. ( 18834350 )
2008

Variations for Afibrinogenemia

ClinVar genetic disease variations for Afibrinogenemia:

6 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1 CFI NM_000204.4(CFI): c.1253A> T (p.His418Leu) single nucleotide variant Pathogenic rs121964912 GRCh37 Chromosome 4, 110667554: 110667554
2 CFI CFI, IVS5DS G-A, -1 single nucleotide variant Pathogenic
3 CFI CFI, 2-BP INS, 1205AT insertion Pathogenic
4 CFI NM_000204.4(CFI): c.728G> A (p.Gly243Asp) single nucleotide variant Pathogenic rs121964916 GRCh37 Chromosome 4, 110681723: 110681723
5 FGG NM_021870.2(FGG): c.78+5G> A single nucleotide variant Pathogenic rs587776837 GRCh38 Chromosome 4, 154612527: 154612527
6 FGG NM_021870.2(FGG): c.307+5G> A single nucleotide variant Pathogenic rs587776838 GRCh37 Chromosome 4, 155533165: 155533165
7 FGG NM_021870.2(FGG): c.667-320A> T single nucleotide variant Pathogenic rs587776839 GRCh38 Chromosome 4, 154608970: 154608970
8 FGB NM_005141.4(FGB): c.1148T> G (p.Leu383Arg) single nucleotide variant Pathogenic rs121909621 GRCh37 Chromosome 4, 155490855: 155490855
9 FGB NM_005141.4(FGB): c.1289G> A (p.Gly430Asp) single nucleotide variant Pathogenic rs121909622 GRCh37 Chromosome 4, 155491615: 155491615
10 FGB NM_005141.4(FGB): c.958+13C> T single nucleotide variant Pathogenic rs606231223 GRCh38 Chromosome 4, 154569320: 154569320
11 FGB NM_005141.4(FGB): c.1244+1G> T single nucleotide variant Pathogenic rs606231224 GRCh38 Chromosome 4, 154569800: 154569800
12 FGB NM_005141.4(FGB): c.605T> A (p.Leu202Gln) single nucleotide variant Pathogenic rs121909624 GRCh37 Chromosome 4, 155488859: 155488859
13 FGB NM_005141.4(FGB): c.139C> T (p.Arg47Ter) single nucleotide variant Pathogenic rs121909625 GRCh37 Chromosome 4, 155486984: 155486984
14 FGA NC_000004.12 deletion Pathogenic GRCh38 Chromosome 4, 154580323: 154590216
15 FGA NM_000508.4(FGA): c.510+1G> T single nucleotide variant Pathogenic rs146387238 GRCh37 Chromosome 4, 155508663: 155508663
16 FGA NM_000508.4(FGA): c.711dupT (p.Lys238Terfs) duplication Pathogenic rs606231225 GRCh38 Chromosome 4, 154586718: 154586718
17 CFI NM_000204.4(CFI): c.80_81delAT (p.Asp27Alafs) deletion Pathogenic rs886043418 GRCh37 Chromosome 4, 110687957: 110687958
18 FGA NM_000508.4(FGA): c.502C> T (p.Arg168Ter) single nucleotide variant Pathogenic rs755117226 GRCh37 Chromosome 4, 155508672: 155508672

Expression for Afibrinogenemia

Search GEO for disease gene expression data for Afibrinogenemia.

Pathways for Afibrinogenemia

Pathways related to Afibrinogenemia according to GeneCards Suite gene sharing:

(show all 17)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.05 F10 F11 F2 F3 F5 F8
2
Show member pathways
12.68 F10 F11 F2 F3 F5 F8
3
Show member pathways
12.16 FGA FGB FGG VWF
4 12.03 C3 CD46 CFI CR1 F10 F11
5
Show member pathways
12 FGA FGB FGG VWF
6
Show member pathways
11.97 C3 CD46 CFI CR1
7
Show member pathways
11.93 FGA FGB FGG VWF
8
Show member pathways
11.93 C3 CD46 CFI CFP CR1
9 11.87 FGA FGB FGG VWF
10
Show member pathways
11.78 C3 CD46 CFP CR1
11
Show member pathways
11.76 F2 FGA FGB FGG VWF
12
Show member pathways
11.64 F10 F11 F2 F3 F5 F8
13 11.46 C3 CFI FGG
14 11.43 F2 FGA FGB FGG VWF
15 11.42 FGA FGB FGG PLAT
16 10.74 F10 F2
17 10.67 PLAT SERPINF2

GO Terms for Afibrinogenemia

Cellular components related to Afibrinogenemia according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.98 C3 F2 FGA FGB FGG SERPINC1
2 endoplasmic reticulum lumen GO:0005788 9.91 C3 CFP F10 F2 F5 F8
3 extracellular region GO:0005576 9.86 C3 CFI CFP F10 F11 F2
4 extracellular matrix GO:0031012 9.84 CFP F3 PLAT VWF
5 external side of plasma membrane GO:0009897 9.83 F2 FGA FGB FGG
6 platelet alpha granule GO:0031091 9.72 F5 FGA FGB FGG VWF
7 fibrinogen complex GO:0005577 9.71 FGA FGB FGG SERPINF2
8 extracellular vesicle GO:1903561 9.69 F5 FGA FGB
9 intrinsic component of external side of plasma membrane GO:0031233 9.48 F10 F3
10 platelet alpha granule lumen GO:0031093 9.17 F5 F8 FGA FGB FGG SERPINF2
11 plasma membrane GO:0005886 10.31 C3 CD46 CR1 F10 F11 F2
12 extracellular exosome GO:0070062 10.24 C3 CD46 CFI CR1 F11 F2
13 cell surface GO:0009986 10.06 CD46 CR1 F3 FGA FGB FGG
14 extracellular space GO:0005615 10 C3 CFI CFP F11 F2 F3

Biological processes related to Afibrinogenemia according to GeneCards Suite gene sharing:

(show all 40)
id Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.97 FGA FGB FGG VWF
2 cellular protein metabolic process GO:0044267 9.97 C3 F2 F5 FGA FGG SERPINC1
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.96 FGA FGB FGG SERPINF2
4 ER to Golgi vesicle-mediated transport GO:0006888 9.95 F10 F2 F5 F8
5 platelet degranulation GO:0002576 9.95 F5 F8 FGA FGB FGG SERPINF2
6 complement activation, classical pathway GO:0006958 9.93 C3 CD46 CFI CR1
7 regulation of complement activation GO:0030449 9.91 C3 CD46 CFI CFP CR1 F2
8 platelet activation GO:0030168 9.91 F2 F5 F8 FGA FGB FGG
9 cell-matrix adhesion GO:0007160 9.86 FGA FGB FGG
10 response to calcium ion GO:0051592 9.83 FGA FGB FGG
11 toll-like receptor signaling pathway GO:0002224 9.81 FGA FGB FGG
12 platelet aggregation GO:0070527 9.81 FGA FGB FGG
13 positive regulation of protein secretion GO:0050714 9.79 FGA FGB FGG
14 acute-phase response GO:0006953 9.79 F2 F8 SERPINF2
15 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.78 FGA FGB FGG
16 positive regulation of vasoconstriction GO:0045907 9.77 FGA FGB FGG
17 positive regulation of substrate adhesion-dependent cell spreading GO:1900026 9.77 FGA FGB FGG
18 negative regulation of endothelial cell apoptotic process GO:2000352 9.76 FGA FGB FGG
19 positive regulation of exocytosis GO:0045921 9.75 FGA FGB FGG
20 cellular protein complex assembly GO:0043623 9.74 FGA FGB FGG
21 regulation of blood coagulation GO:0030193 9.73 F11 F2 SERPINC1
22 blood coagulation GO:0007596 9.73 F10 F11 F2 F3 F5 F8
23 protein polymerization GO:0051258 9.72 FGA FGB FGG
24 blood coagulation, intrinsic pathway GO:0007597 9.72 F10 F11 F2 F8 VWF
25 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.71 FGA FGB FGG
26 positive regulation of peptide hormone secretion GO:0090277 9.69 FGA FGB FGG
27 complement activation, alternative pathway GO:0006957 9.68 C3 CFP
28 peptidyl-glutamic acid carboxylation GO:0017187 9.68 F10 F2
29 negative regulation of fibrinolysis GO:0051918 9.67 F2 SERPINF2
30 positive regulation of transforming growth factor beta production GO:0071636 9.66 CD46 SERPINF2
31 blood coagulation, fibrin clot formation GO:0072378 9.65 FGA FGB FGG
32 plasminogen activation GO:0031639 9.65 F11 FGA FGB FGG PLAT
33 blood coagulation, extrinsic pathway GO:0007598 9.64 F10 F3
34 fibrinolysis GO:0042730 9.63 F2 FGA FGB FGG PLAT SERPINF2
35 induction of bacterial agglutination GO:0043152 9.62 FGA FGB
36 hemostasis GO:0007599 9.36 F10 F11 F2 F3 F5 F8
37 proteolysis GO:0006508 10.11 C3 CD46 CFI F10 F11 F2
38 immune system process GO:0002376 10.07 C3 CD46 CR1 FGA FGB
39 innate immune response GO:0045087 10.07 C3 CD46 CFI CFP CR1 FGA
40 post-translational protein modification GO:0043687 10.04 C3 F5 FGA FGG SERPINC1

Molecular functions related to Afibrinogenemia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.83 CFI F10 F11 F2 PLAT
2 receptor binding GO:0005102 9.63 C3 F2 FGA FGB FGG PLAT
3 protein binding, bridging GO:0030674 9.58 FGA FGB FGG
4 protease binding GO:0002020 9.56 F3 SERPINC1 SERPINF2 VWF
5 cell adhesion molecule binding GO:0050839 9.54 FGA FGB FGG
6 serine-type peptidase activity GO:0008236 9.35 CFI F10 F11 F2 PLAT
7 serine-type endopeptidase activity GO:0004252 9.28 C3 CFI F10 F11 F2 F3
8 protein binding GO:0005515 10.25 C3 CD46 CFI F10 F11 F2

Sources for Afibrinogenemia

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
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