MCID: AFB002
MIFTS: 61

Afibrinogenemia, Congenital

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Afibrinogenemia, Congenital

MalaCards integrated aliases for Afibrinogenemia, Congenital:

Name: Afibrinogenemia, Congenital 53 28 13
Congenital Afibrinogenemia 12 72 24 71 51 14
Afibrinogenemia 24 41 69
Familial Afibrinogenemia 24 55
Hypofibrinogenemia 69 28
Complement Factor I Deficiency 69
Hypofibrinogenemia, Congenital 53
Congenital Hypofibrinogenemia 69
Familial Hypofibrinogenemia 55
Fibrinogen Deficiency 12
Factor I Deficiency 12
Cafbn 71

Characteristics:

Orphanet epidemiological data:

55
familial afibrinogenemia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;
familial hypofibrinogenemia
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
afibrinogenemia, congenital:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Afibrinogenemia, Congenital

OMIM : 53 Inherited disorders of fibrinogen affect either the quantity (afibrinogenemia and hypofibrinogenemia; 202400) or the quality (dysfibrinogenemia; 616004) of the circulating fibrinogen or both (hypodysfibrinogenemia; see 616004). Afibrinogenemia is characterized by the complete absence of immunoreactive fibrinogen. Bleeding due to afibrinogenemia usually manifests in the neonatal period, with 85% of cases presenting umbilical cord bleeding, but a later age of onst is not unusual. Bleeding may occur in the skin, gastrointestinal tract, genitourinary tract, or the central nervous system, with intracranial hemorrhage being reported as the major cause of death. Patients are susceptible to spontaneous rupture of the spleen. Menstruating women may experience menometrorrhagia. First-trimester abortion is common. Both arterial and venous thromboembolic complications have been reported (summary by de Moerloose and Neerman-Arbez, 2009). Hypofibrinogenemia is characterized by reduced amounts of immunoreactive fibrinogen. Patients are often heterozygous carriers of afibrinogenemia mutations and are usually asymptomatic. However, they may bleed when exposed to trauma or if they have a second associated hemostatic abnormality. Women may experience miscarriages. Liver disease occurs in rare cases (summary by de Moerloose and Neerman-Arbez, 2009). (202400)

MalaCards based summary : Afibrinogenemia, Congenital, also known as congenital afibrinogenemia, is related to complement factor i deficiency and afibrinogenemia, and has symptoms including joint swelling, menometrorrhagia and abnormal bleeding. An important gene associated with Afibrinogenemia, Congenital is FGA (Fibrinogen Alpha 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 skin, brain and liver, and related phenotypes are cardiovascular system and hematopoietic system

Genetics Home Reference : 24 Congenital afibrinogenemia is a bleeding disorder caused by impairment of the blood clotting process. Normally, blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss. However, bleeding is uncontrolled in people with congenital afibrinogenemia. Newborns with this condition often experience prolonged bleeding from the umbilical cord stump after birth. Nosebleeds (epistaxis) and bleeding from the gums or tongue are common and can occur after minor trauma or in the absence of injury (spontaneous bleeding). Some affected individuals experience bleeding into the spaces between joints (hemarthrosis) or the muscles (hematoma). Rarely, bleeding in the brain or other internal organs occurs, which can be fatal. Women with congenital afibrinogenemia can have abnormally heavy menstrual bleeding (menorrhagia). Without proper treatment, women with this disorder may have difficulty carrying a pregnancy to term, resulting in repeated miscarriages.

UniProtKB/Swiss-Prot : 71 Congenital afibrinogenemia: Rare autosomal recessive disorder is characterized by bleeding that varies from mild to severe and by complete absence or extremely low levels of plasma and platelet fibrinogen.

Wikipedia : 72 Congenital afibrinogenemia is a rare, genetically inherited blood fibrinogen disorder in which the blood... more...

Related Diseases for Afibrinogenemia, Congenital

Diseases in the Afibrinogenemia family:

Afibrinogenemia, Congenital

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

(show top 50) (show all 177)
# Related Disease Score Top Affiliating Genes
1 complement factor i deficiency 34.2 C3 CFI
2 afibrinogenemia 29.9 C3 CFI F2 F3 F8 FGA
3 giant hemangioma 29.2 F2 F3 SERPINC1 SERPINF2
4 hypofibrinogenemia, familial 12.2
5 fibrinogen deficiency, congenital 12.1
6 insulin-like growth factor i 12.0
7 complement factor h deficiency 10.9
8 chronic thromboembolic pulmonary hypertension 10.5 FGA FGB
9 cerebral falx meningioma 10.4 F2 F3
10 cerebral sinovenous thrombosis 10.4 F2 F3
11 spinal cord infarction 10.4 F2 SERPINC1
12 sudden sensorineural hearing loss 10.4 F2 SERPINC1
13 femoral neuropathy 10.4 F2 F3
14 blood protein disease 10.4 F2 SERPINC1
15 intracranial sinus thrombosis 10.4 F3 SERPINC1
16 heparin-induced thrombocytopenia 10.4 F3 SERPINC1
17 hantavirus pulmonary syndrome 10.4 F2 F3
18 prothrombin deficiency, congenital 10.4 F2 SERPINC1
19 anterior cranial fossa meningioma 10.4 F2 F3
20 dysfibrinogenemia, congenital 10.4 FGA FGB FGG
21 active peptic ulcer disease 10.4 F2 VWF
22 anterior spinal artery syndrome 10.4 F2 SERPINC1
23 splenic disease 10.4 F2 F3
24 sneddon syndrome 10.3 F2 SERPINC1
25 esophageal varix 10.3 F2 SERPINC1
26 livedoid vasculopathy 10.3 F2 SERPINE1
27 retinal vascular occlusion 10.3 F2 SERPINC1
28 complement component 3 deficiency 10.3 C3 CFI
29 chronic monocytic leukemia 10.3 C3 F2
30 cryptogenic cirrhosis 10.3 F2 SERPINE1
31 posterior myocardial infarction 10.3 PLAT SERPINC1
32 encephalopathy, familial, with neuroserpin inclusion bodies 10.2 PLAT SERPINC1
33 basilar artery occlusion 10.2 F2 PLAT
34 sticky platelet syndrome 10.2 SERPINC1 SERPINE1
35 antithrombin iii deficiency 10.2 F2 SERPINC1
36 factor xii deficiency 10.2 F3 SERPINC1
37 catastrophic antiphospholipid syndrome 10.2 F3 SERPINE1
38 enterocolitis 10.2 C3 CFI
39 eisenmenger syndrome 10.2 PLAT VWF
40 leech infestation 10.2 F2 F3 SERPINC1
41 sagittal sinus thrombosis 10.2 F2 F3 SERPINC1
42 ascending cholangitis 10.2 C3 F2
43 hepatic infarction 10.2 F2 F3 SERPINC1
44 peripheral vertigo 10.2 F2 F3 SERPINC1
45 hemorrhagic fever 10.2 F2 F3 SERPINC1
46 central serous chorioretinopathy 10.2 PLAT SERPINE1
47 branch retinal artery occlusion 10.2 F2 F3 SERPINC1
48 hypersplenism 10.2 F2 SERPINC1
49 protein s deficiency 10.2 F2 F3 SERPINC1
50 buerger disease 10.2 F2 SERPINE1

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



Diseases related to Afibrinogenemia, Congenital

Symptoms & Phenotypes for Afibrinogenemia, Congenital

Symptoms via clinical synopsis from OMIM:

53
Abdomen:
splenic rupture

Lab:
afibrinogenemia

Heme:
blood completely incoagulable
bleeding mild to severe
osseous hemorrhage
hepatic hemorrhage


Clinical features from OMIM:

202400

Human phenotypes related to Afibrinogenemia, Congenital:

55 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint swelling 55 31 hallmark (90%) Very frequent (99-80%) HP:0001386
2 menometrorrhagia 55 31 hallmark (90%) Very frequent (99-80%) HP:0400008
3 abnormal bleeding 55 31 Very frequent (99-80%),Very frequent (99-80%) HP:0001892
4 gastrointestinal hemorrhage 55 31 hallmark (90%) Very frequent (99-80%) HP:0002239
5 epistaxis 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000421
6 gingival bleeding 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000225
7 cerebral hemorrhage 55 31 occasional (7.5%) Occasional (29-5%) HP:0001342
8 spontaneous abortion 55 31 hallmark (90%) Very frequent (99-80%) HP:0005268
9 splenic rupture 31 HP:0012223
10 hypofibrinogenemia 31 HP:0011900

MGI Mouse Phenotypes related to Afibrinogenemia, Congenital:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.07 SERPINE1 FGA FGB C3 FGG F2
2 hematopoietic system MP:0005397 10.06 FGA C3 FGG CFI F2 PLAT
3 homeostasis/metabolism MP:0005376 10.03 FGA SERPINF2 C3 FGG CFI F2
4 immune system MP:0005387 9.85 SERPINE1 FGA C3 FGG F2 PLAT
5 mortality/aging MP:0010768 9.65 SERPINE1 FGA C3 FGG F2 PLAT
6 reproductive system MP:0005389 9.23 FGA FGB C3 FGG F2 PLAT

Drugs & Therapeutics for Afibrinogenemia, Congenital

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


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

Interventional clinical trials:

(show all 12)

# Name Status NCT ID Phase Drugs
1 Human Fibrinogen Concentrate in Pediatric Cardiac Surgery Recruiting NCT02822599 Phase 4 RiaStAP;Saline
2 Human Fibrinogen Concentrate (FGTW) in Pediatric Patients With Congenital Fibrinogen Deficiency Completed NCT02094430 Phase 2, Phase 3 biological: human fibrinogen concentrate
3 Haemocomplettan® P During Elective Complex Cardiac Surgery Completed NCT01124981 Phase 2, Phase 3 Haemocomplettan® P;Human albumin (Placebo)
4 Pharmacokinetic, Efficacy and Safety of BT524 in Patients With Congenital Fibrinogen Deficiency Recruiting NCT02065882 Phase 3
5 Study to Assess the Efficacy, Safety and Pharmacokinetic of Octafibrin in Paediatric Subjects With Fibrinogen Deficiency Recruiting NCT02408484 Phase 3
6 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 Octafibrin
7 Fibrinogen Concentrate (Human) − Efficacy and Safety Study Withdrawn NCT00916656 Phase 3
8 Pharmacokinetic, Efficacy, and Safety Study of Octafibrin Compared to Haemocomplettan/Riastap Completed NCT01575756 Phase 2
9 Human Fibrinogen - Pharmacokinetics Completed NCT00496262 Phase 2
10 Pharmacokinetics, Efficacy, and Safety of Human Plasma-Derived Fibrinogen (FIB Grifols) in Patients With Congenital Afibrinogenaemia Recruiting NCT02281500 Phase 1, Phase 2
11 RiaSTAP vs. Conventional Transfusion in Patients Having Heart Valve Surgery Terminated NCT01283321 Phase 2 Human fibrinogen concentrate
12 An Observational Cohort Study of the Safety and Efficacy of Fibrinogen Concentrate, Human (FCH) in Subjects With Congenital Fibrinogen Deficiency Completed NCT02427217

Search NIH Clinical Center for Afibrinogenemia, Congenital

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: afibrinogenemia

Genetic Tests for Afibrinogenemia, Congenital

Genetic tests related to Afibrinogenemia, Congenital:

# Genetic test Affiliating Genes
1 Afibrinogenemia, Congenital 28 FGA FGB FGG
2 Hypofibrinogenemia 28

Anatomical Context for Afibrinogenemia, Congenital

MalaCards organs/tissues related to Afibrinogenemia, Congenital:

38
Skin, Brain, Liver, Tongue, Spleen

Publications for Afibrinogenemia, Congenital

Articles related to Afibrinogenemia, Congenital:

(show top 50) (show all 125)
# Title Authors Year
1
Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population. ( 28912669 )
2017
2
Post-authorization safety study of Clottafact(Ar) , a triply secured fibrinogen concentrate in congenital afibrinogenemia. A prospective observational study. ( 27583698 )
2016
3
Congenital afibrinogenemia: from etiopathogenesis to challenging clinical management. ( 27291795 )
2016
4
Congenital afibrinogenemia: a case report of a spontaneous hepatic hematoma. ( 27428204 )
2016
5
A Rare Complication Of Congenital Afibrinogenemia: Bone Cysts. ( 27094883 )
2016
6
Fibrinogen Martin: A Novel Mutation in FGB (Gln180Stop) Causing Congenital Afibrinogenemia. ( 27148845 )
2016
7
Perioperative Coagulation Management in a Patient with Congenital Afibrinogenemia during Revision Total Hip Arthroplasty. ( 27472424 )
2016
8
Severe Thrombotic Complications in Congenital Afibrinogenemia: A Pathophysiological and Management Dilemma. ( 27253088 )
2016
9
Congenital afibrinogenemia: Identification and characterization of two novel homozygous fibrinogen AI+ and BI^ chain mutations in two Tunisian families. ( 27164460 )
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
Umbilical bleeding: a presenting feature for congenital afibrinogenemia. ( 26407137 )
2015
13
Recurrent massive haemoperitoneum associated with ruptured corpus luteum in women with congenital afibrinogenemia; case report. ( 28913028 )
2014
14
Recurrent myocardial infarction in a case of congenital afibrinogenemia. ( 24949183 )
2014
15
A case of congenital afibrinogenemia complicated with thromboembolic events that required repeated amputations. ( 25255238 )
2014
16
Targeted mutation of zebrafish fga models human congenital afibrinogenemia. ( 24553182 )
2014
17
Spontaneous splenic rupture in a patient with congenital afibrinogenemia. ( 26078670 )
2014
18
Congenital afibrinogenemia in a new born: a rare cause for bleeding. ( 24509333 )
2014
19
Pulmonary embolism in a patient with congenital afibrinogenemia. ( 23855372 )
2013
20
Successful ABO-incompatible kidney transplantation in patient with congenital afibrinogenemia. ( 22624802 )
2012
21
Diagnosis and non-surgical periodontal management in congenital afibrinogenemia: report of a rare case. ( 22323341 )
2012
22
Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia. ( 22732251 )
2012
23
Recurrent massive hemoperitoneum due to ovulation as a clinical sign in congenital afibrinogenemia. ( 21241266 )
2011
24
A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family. ( 21245743 )
2011
25
Anaesthetic management of a child with congenital afibrinogenemia - A rare inherited coagulation disorder. ( 22223906 )
2011
26
Chronic subdural hematoma in a patient with congenital afibrinogenemia successfully treated with fibrinogen replacement. ( 22123482 )
2011
27
Cellulitis on face in a patient with congenital afibrinogenemia. ( 21521918 )
2011
28
Identification and functional characterization of a novel nonsense mutation in FGA accounting for congenital afibrinogenemia in six Egyptian patients. ( 20051841 )
2010
29
Severe elbow arthropathy in a patient with congenital afibrinogenemia: a case report. ( 20124074 )
2010
30
Congenital Afibrinogenemia presenting as antenatal intracranial bleed: a case report. ( 20180944 )
2010
31
Spontaneous intracranial bleeding in a neonate with congenital afibrinogenemia. ( 20445442 )
2010
32
Spinal cord infarction in congenital afibrinogenemia: a case report and review of the literature. ( 19560685 )
2009
33
A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream. ( 19417632 )
2009
34
Spontaneous extra-axial intracranial hemorrhage followed by thrombosis in congenital afibrinogenemia: perioperative management of this rare combination. ( 18295846 )
2009
35
Treatment of congenital afibrinogenemia in a premature neonate. ( 18559953 )
2008
36
Interstitial pregnancy in a woman with congenital afibrinogenemia. ( 18834350 )
2008
37
Capsule endoscopy findings in congenital afibrinogenemia-associated angiopathy. ( 19003752 )
2008
38
Congenital afibrinogenemia diagnosis by estimating plasma fibrinogen by conventional method with clinical correlation. ( 18603723 )
2008
39
Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations. ( 17295221 )
2007
40
Retrochorionic hematoma in congenital afibrinogenemia: resolution with fibrinogen concentrate infusions. ( 17034026 )
2007
41
[Congenital afibrinogenemia associated with a novel nonsense mutation in the FGA gene]. ( 15946522 )
2005
42
Coxopathy in congenital afibrinogenemia. ( 16357746 )
2005
43
Mesenteric venous thrombosis in a patient with congenital afibrinogenemia and diffuse peritonitis. ( 15503018 )
2005
44
Congenital afibrinogenemia complicated by spontaneous cerebral hemorrhage and unusually quick resorption. ( 15726270 )
2005
45
Aortic valve repair in a patient with congenital afibrinogenemia. ( 16301232 )
2005
46
Case 1-2005: cardiac surgery in congenital afibrinogenemia with thrombo-occlusive disease. ( 15747281 )
2005
47
Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia. ( 16195396 )
2005
48
Hemi-spinal cord infarction due to vertebral artery dissection in congenital afibrinogenemia. ( 15505182 )
2004
49
Pregnancy-related thrombosis in a woman with congenital afibrinogenemia: a report of two successful pregnancies. ( 15224364 )
2004
50
Nonketotic hyperosmolar coma associated with splenic rupture in congenital afibrinogenemia. ( 15454840 )
2004

Variations for Afibrinogenemia, Congenital

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

71 (show all 13)
# Symbol AA change Variation ID SNP ID
1 FGA p.Cys55Arg VAR_072721
2 FGA p.Arg129Pro VAR_072722
3 FGA p.Cys184Trp VAR_072723
4 FGB p.Arg196Cys VAR_016908 rs121909623
5 FGB p.Leu383Arg VAR_016909 rs121909621
6 FGB p.Gly430Asp VAR_016910 rs121909622
7 FGB p.Leu202Gln VAR_072620 rs121909624
8 FGB p.Cys95Arg VAR_072724
9 FGB p.Thr407Lys VAR_072725
10 FGG p.Thr303Pro VAR_072726
11 FGG p.Asp327His VAR_072727
12 FGG p.Asn345Asp VAR_072728
13 FGG p.Arg401Trp VAR_072729 rs75848804

ClinVar genetic disease variations for Afibrinogenemia, Congenital:

6 (show all 19)
# 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 FGA NM_000508.4(FGA): c.991A> G (p.Thr331Ala) single nucleotide variant risk factor rs6050 GRCh37 Chromosome 4, 155507590: 155507590
18 CFI NM_000204.4(CFI): c.80_81delAT (p.Asp27Alafs) deletion Pathogenic rs886043418 GRCh37 Chromosome 4, 110687957: 110687958
19 FGA NM_000508.4(FGA): c.502C> T (p.Arg168Ter) single nucleotide variant Pathogenic rs755117226 GRCh37 Chromosome 4, 155508672: 155508672

Expression for Afibrinogenemia, Congenital

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

Pathways for Afibrinogenemia, Congenital

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

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 F2 F3 F8 FGA FGB FGG
2
Show member pathways
12.63 F2 F3 F8 FGA FGB FGG
3
Show member pathways
12.61 F2 FGA FGB FGG
4
Show member pathways
12.49 FGA FGB FGG SERPINE1
5
Show member pathways
12.12 FGA FGB FGG VWF
6
Show member pathways
11.97 FGA FGB FGG VWF
7
Show member pathways
11.91 FGA FGB FGG VWF
8 11.91 C3 CFI F2 F3 F8 FGA
9 11.85 FGA FGB FGG VWF
10
Show member pathways
11.71 F2 FGA FGB FGG VWF
11
Show member pathways
11.57 F2 F3 F8 FGA FGB FGG
12 11.45 C3 CFI FGG
13 11.4 FGA FGB FGG PLAT
14 11.36 F2 FGA FGB FGG VWF
15 10.72 PLAT SERPINE1 SERPINF2

GO Terms for Afibrinogenemia, Congenital

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.93 F3 FGA FGB FGG PLAT SERPINF2
2 extracellular space GO:0005615 9.93 C3 CFI F2 F3 F8 FGA
3 endoplasmic reticulum lumen GO:0005788 9.91 C3 F2 F8 FGA FGG SERPINC1
4 extracellular matrix GO:0031012 9.8 F3 PLAT SERPINE1 VWF
5 blood microparticle GO:0072562 9.8 C3 F2 FGA FGB FGG SERPINC1
6 external side of plasma membrane GO:0009897 9.78 F2 FGA FGB FGG
7 extracellular region GO:0005576 9.77 C3 CFI F2 F3 F8 FGA
8 platelet alpha granule GO:0031091 9.67 FGA FGB FGG VWF
9 fibrinogen complex GO:0005577 9.62 FGA FGB FGG SERPINF2
10 platelet alpha granule lumen GO:0031093 9.17 F8 FGA FGB FGG SERPINE1 SERPINF2
11 extracellular exosome GO:0070062 10.18 C3 CFI F2 F3 FGA FGB

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

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.96 C3 FGA FGG SERPINC1
2 cellular protein metabolic process GO:0044267 9.95 C3 F2 FGA FGG SERPINC1
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.93 FGA FGB FGG SERPINF2
4 extracellular matrix organization GO:0030198 9.93 FGA FGB FGG SERPINE1 VWF
5 negative regulation of endopeptidase activity GO:0010951 9.88 C3 SERPINC1 SERPINE1 SERPINF2
6 positive regulation of angiogenesis GO:0045766 9.84 C3 F3 SERPINE1
7 negative regulation of peptidase activity GO:0010466 9.84 SERPINC1 SERPINE1 SERPINF2
8 regulation of complement activation GO:0030449 9.83 C3 CFI F2
9 cell-matrix adhesion GO:0007160 9.82 FGA FGB FGG
10 response to calcium ion GO:0051592 9.81 FGA FGB FGG
11 blood coagulation GO:0007596 9.81 F2 F3 F8 FGA FGB FGG
12 toll-like receptor signaling pathway GO:0002224 9.8 FGA FGB FGG
13 platelet activation GO:0030168 9.8 F2 F8 FGA FGB FGG VWF
14 platelet degranulation GO:0002576 9.8 F8 FGA FGB FGG SERPINE1 SERPINF2
15 platelet aggregation GO:0070527 9.79 FGA FGB FGG
16 positive regulation of protein secretion GO:0050714 9.79 FGA FGB FGG
17 acute-phase response GO:0006953 9.78 F2 F8 SERPINF2
18 positive regulation of substrate adhesion-dependent cell spreading GO:1900026 9.77 FGA FGB FGG
19 positive regulation of vasoconstriction GO:0045907 9.77 FGA FGB FGG
20 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.76 FGA FGB FGG SERPINE1
21 positive regulation of exocytosis GO:0045921 9.75 FGA FGB FGG
22 cellular protein complex assembly GO:0043623 9.74 FGA FGB FGG
23 blood coagulation, intrinsic pathway GO:0007597 9.73 F2 F8 VWF
24 negative regulation of endothelial cell apoptotic process GO:2000352 9.71 FGA FGB FGG SERPINE1
25 protein polymerization GO:0051258 9.7 FGA FGB FGG
26 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.69 FGA FGB FGG
27 negative regulation of proteolysis GO:0045861 9.68 F2 PLAT
28 positive regulation of collagen biosynthetic process GO:0032967 9.67 F2 SERPINF2
29 regulation of blood coagulation GO:0030193 9.67 F2 SERPINC1
30 negative regulation of fibrinolysis GO:0051918 9.67 F2 SERPINE1 SERPINF2
31 plasminogen activation GO:0031639 9.67 FGA FGB FGG PLAT
32 positive regulation of blood coagulation GO:0030194 9.65 F2 SERPINE1
33 positive regulation of peptide hormone secretion GO:0090277 9.65 FGA FGB FGG
34 induction of bacterial agglutination GO:0043152 9.64 FGA FGB
35 negative regulation of plasminogen activation GO:0010757 9.64 SERPINE1 SERPINF2
36 blood coagulation, fibrin clot formation GO:0072378 9.61 FGA FGB FGG
37 hemostasis GO:0007599 9.56 F2 F3 F8 FGA FGB FGG
38 fibrinolysis GO:0042730 9.17 F2 FGA FGB FGG PLAT SERPINE1

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

# Name GO ID Score Top Affiliating Genes
1 serine-type peptidase activity GO:0008236 9.63 CFI F2 PLAT
2 peptidase inhibitor activity GO:0030414 9.61 SERPINC1 SERPINE1 SERPINF2
3 serine-type endopeptidase inhibitor activity GO:0004867 9.58 SERPINC1 SERPINE1 SERPINF2
4 serine-type endopeptidase activity GO:0004252 9.55 C3 CFI F2 F3 PLAT
5 protein binding, bridging GO:0030674 9.54 FGA FGB FGG
6 cell adhesion molecule binding GO:0050839 9.5 FGA FGB FGG
7 protease binding GO:0002020 9.35 F3 SERPINC1 SERPINE1 SERPINF2 VWF
8 receptor binding GO:0005102 9.17 C3 F2 FGA FGB FGG PLAT
9 protein binding GO:0005515 10.07 C3 CFI F2 F3 F8 FGA

Sources for Afibrinogenemia, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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