CAFBN
MCID: AFB002
MIFTS: 61

Afibrinogenemia, Congenital (CAFBN)

Categories: Blood diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Afibrinogenemia, Congenital

MalaCards integrated aliases for Afibrinogenemia, Congenital:

Name: Afibrinogenemia, Congenital 58 30 13 6 41
Congenital Afibrinogenemia 12 77 26 76 56 15
Afibrinogenemia 26 45 74
Familial Afibrinogenemia 26 60
Complement Factor I Deficiency 74
Hypofibrinogenemia, Congenital 58
Congenital Hypofibrinogenemia 74
Familial Hypofibrinogenemia 60
Fibrinogen Deficiency 12
Factor I Deficiency 12
Hypofibrinogenemia 74
Cafbn 76

Characteristics:

Orphanet epidemiological data:

60
familial afibrinogenemia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;
familial hypofibrinogenemia
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
afibrinogenemia, congenital:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Afibrinogenemia, Congenital

OMIM : 58 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 dysfibrinogenemia, congenital. An important gene associated with Afibrinogenemia, Congenital is FGG (Fibrinogen Gamma 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 liver, skin and brain, and related phenotypes are joint swelling and gastrointestinal hemorrhage

Genetics Home Reference : 26 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 : 76 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 : 77 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 188)
# Related Disease Score Top Affiliating Genes
1 complement factor i deficiency 33.9 C3 CFI
2 dysfibrinogenemia, congenital 32.0 FGA FGB FGG
3 spinal cord infarction 30.6 F2 SERPINC1
4 afibrinogenemia 30.5 C3 CFI F2 F3 FGA FGB
5 protein c deficiency 30.3 F2 SERPINC1
6 hemophilia 30.0 F2 F3 VWF
7 von willebrand's disease 30.0 F2 F3 VWF
8 placental abruption 30.0 F2 SERPINC1
9 thrombosis 29.7 F2 F3 PLAT SERPINC1 VWF
10 purpura 29.6 F2 F3 SERPINC1 VWF
11 giant hemangioma 29.5 F2 F3 SERPINC1 SERPINF2
12 thrombophilia due to thrombin defect 29.3 F2 F3 PLAT SERPINC1 VWF
13 dysfibrinogenemia 28.8 F2 FGA FGB FGG PLAT SERPINC1
14 pulmonary embolism 28.8 F2 F3 PLAT SERPINC1 SERPINF2 VWF
15 myocardial infarction 28.3 F2 F3 FGA FGB PLAT SERPINC1
16 fibrinogen deficiency, congenital 12.4
17 insulin-like growth factor i 12.2
18 hemolytic uremic syndrome, atypical 3 11.2
19 hypofibrinogenemia, familial 11.1
20 complement factor h deficiency 11.1
21 hemorrhagic fever 10.3 F2 SERPINC1
22 thrombasthenia 10.3 F2 F3
23 cerebral falx meningioma 10.3 F2 F3
24 prothrombin deficiency 10.3 F2 F3
25 cerebral sinovenous thrombosis 10.3 F2 F3
26 retinal artery occlusion 10.3 F2 SERPINC1
27 femoral neuropathy 10.3 F2 F3
28 alcohol-related birth defect 10.3 F2 F3
29 hantavirus pulmonary syndrome 10.3 F2 F3
30 prothrombin deficiency, congenital 10.3 F2 SERPINC1
31 anterior cranial fossa meningioma 10.3 F2 F3
32 vascular hemostatic disease 10.3 F2 F3
33 ischemic colitis 10.3 F2 SERPINC1
34 splenic disease 10.3 F2 F3
35 heparin-induced thrombocytopenia 10.3 F3 SERPINC1
36 subendocardial myocardial infarction 10.3 F2 SERPINC1
37 sneddon syndrome 10.3 F2 SERPINC1
38 active peptic ulcer disease 10.3 F2 VWF
39 esophageal varix 10.2 F2 SERPINC1
40 brachydactyly, type d 10.2 F2 VWF
41 retinal vascular occlusion 10.2 F2 SERPINC1
42 anterior spinal artery syndrome 10.2 F2 SERPINC1
43 factor viii deficiency 10.2 F2 VWF
44 antithrombin iii deficiency 10.2 F2 SERPINC1
45 post-thrombotic syndrome 10.2 F2 SERPINC1
46 hypersplenism 10.2 F2 SERPINC1
47 chronic thromboembolic pulmonary hypertension 10.2 F2 FGA FGB
48 endocardium disease 10.2 F2 F3
49 central retinal vein occlusion 10.2 F2 SERPINC1
50 retinal vein occlusion 10.2 F2 SERPINC1

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



Diseases related to Afibrinogenemia, Congenital

Symptoms & Phenotypes for Afibrinogenemia, Congenital

Human phenotypes related to Afibrinogenemia, Congenital:

60 33 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint swelling 60 33 hallmark (90%) Very frequent (99-80%) HP:0001386
2 gastrointestinal hemorrhage 60 33 hallmark (90%) Very frequent (99-80%) HP:0002239
3 epistaxis 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000421
4 gingival bleeding 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000225
5 spontaneous abortion 60 33 hallmark (90%) Very frequent (99-80%) HP:0005268
6 menometrorrhagia 60 33 hallmark (90%) Very frequent (99-80%) HP:0400008
7 cerebral hemorrhage 60 33 occasional (7.5%) Occasional (29-5%) HP:0001342
8 abnormal bleeding 60 33 Very frequent (99-80%),Very frequent (99-80%) HP:0001892
9 splenic rupture 33 HP:0012223
10 hypofibrinogenemia 33 HP:0011900

Symptoms via clinical synopsis from OMIM:

58
Abdomen:
splenic rupture

Lab:
afibrinogenemia

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

Clinical features from OMIM:

202400

MGI Mouse Phenotypes related to Afibrinogenemia, Congenital:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.02 C3 F2 F3 FGA FGB FGG
2 hematopoietic system MP:0005397 9.91 C3 CFI F2 F3 FGA FGG
3 homeostasis/metabolism MP:0005376 9.85 C3 CFI F2 F3 FGA FGG
4 embryo MP:0005380 9.8 C3 F2 F3 FGA FGG SERPINC1
5 immune system MP:0005387 9.56 C3 F2 F3 FGA FGG PLAT
6 reproductive system MP:0005389 9.17 C3 F2 FGA FGB FGG 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 16)
# Name Status NCT ID Phase Drugs
1 Early Administration of Fibrinogen in Polytraumatized Patients With Hypofibrinogenemia: a Randomized Feasibility Trial Completed NCT02864875 Phase 4 Fibrinogen concentrate
2 Human Fibrinogen Concentrate in Pediatric Cardiac Surgery Recruiting NCT02822599 Phase 4 RiaStAP;Saline
3 Human Fibrinogen Concentrate (FGTW) in Pediatric Patients With Congenital Fibrinogen Deficiency Completed NCT02094430 Phase 2, Phase 3 biological: human fibrinogen concentrate
4 Haemocomplettan® P During Elective Complex Cardiac Surgery Completed NCT01124981 Phase 2, Phase 3 Haemocomplettan® P;Human albumin (Placebo)
5 Efficacy and Safety Study of Octafibrin for On-demand Treatment of Acute Bleeding and to Prevent Bleeding During and After Surgery Completed NCT02267226 Phase 3 Octafibrin
6 Pharmacokinetic, Efficacy and Safety of BT524 in Patients With Congenital Fibrinogen Deficiency Recruiting NCT02065882 Phase 3
7 Study to Assess the Efficacy, Safety and Pharmacokinetic of Octafibrin in Paediatric Subjects With Fibrinogen Deficiency Recruiting NCT02408484 Phase 3
8 Fibrinogen Concentrate (Human) − Efficacy and Safety Study Withdrawn NCT00916656 Phase 3
9 Pharmacokinetic, Efficacy, and Safety Study of Octafibrin Compared to Haemocomplettan/Riastap Completed NCT01575756 Phase 2
10 Human Fibrinogen - Pharmacokinetics Completed NCT00496262 Phase 2
11 Pharmacokinetics, Efficacy, and Safety of Human Plasma-Derived Fibrinogen (FIB Grifols) in Patients With Congenital Afibrinogenemia Recruiting NCT02281500 Phase 1, Phase 2
12 RiaSTAP vs. Conventional Transfusion in Patients Having Heart Valve Surgery Terminated NCT01283321 Phase 2 Human fibrinogen concentrate
13 An Observational Cohort Study of the Safety and Efficacy of Fibrinogen Concentrate, Human (FCH) in Subjects With Congenital Fibrinogen Deficiency Completed NCT02427217
14 Predictors of Hypofibrinogenemia in Severe Trauma Completed NCT03020849
15 Quality of Life in Patients With Congenital Afibrinogenemia Recruiting NCT03484065
16 Safety and Efficacy of Fibryga in Congenital Fibrinogen Deficiency Not yet recruiting NCT03793426

Search NIH Clinical Center for Afibrinogenemia, Congenital

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: afibrinogenemia

Genetic Tests for Afibrinogenemia, Congenital

Genetic tests related to Afibrinogenemia, Congenital:

# Genetic test Affiliating Genes
1 Afibrinogenemia, Congenital 30 FGA FGB FGG

Anatomical Context for Afibrinogenemia, Congenital

MalaCards organs/tissues related to Afibrinogenemia, Congenital:

42
Liver, Skin, Brain, Tongue, Spleen, Heart, Spinal Cord

Publications for Afibrinogenemia, Congenital

Articles related to Afibrinogenemia, Congenital:

(show top 50) (show all 133)
# Title Authors Year
1
Administering RiaSTAP for Congenital Afibrinogenemia During Liver Transplant. ( 29766777 )
2018
2
Ischemic Strokes in a Man with Congenital Afibrinogenemia. ( 30019658 )
2018
3
Impaired factor XIII activation in patients with congenital afibrinogenemia. ( 30262556 )
2018
4
Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population. ( 28912669 )
2017
5
Congenital afibrinogenemia: a case report of a spontaneous hepatic hematoma. ( 27428204 )
2016
6
[Congenital afibrinogenemia: about a case]. ( 28293349 )
2016
7
Severe Thrombotic Complications in Congenital Afibrinogenemia: A Pathophysiological and Management Dilemma. ( 27253088 )
2016
8
Perioperative Coagulation Management in a Patient with Congenital Afibrinogenemia during Revision Total Hip Arthroplasty. ( 27472424 )
2016
9
A Rare Complication Of Congenital Afibrinogenemia: Bone Cysts. ( 27094883 )
2016
10
Post-authorization safety study of Clottafact(Ar) , a triply secured fibrinogen concentrate in congenital afibrinogenemia. A prospective observational study. ( 27583698 )
2016
11
Congenital afibrinogenemia: from etiopathogenesis to challenging clinical management. ( 27291795 )
2016
12
Fibrinogen Martin: A Novel Mutation in FGB (Gln180Stop) Causing Congenital Afibrinogenemia. ( 27148845 )
2016
13
Congenital afibrinogenemia: Identification and characterization of two novel homozygous fibrinogen AI+ and BI^ chain mutations in two Tunisian families. ( 27164460 )
2016
14
Umbilical bleeding: a presenting feature for congenital afibrinogenemia. ( 26407137 )
2015
15
Thrombosis of abdominal aorta in congenital afibrinogenemia: case report and review of literature. ( 25421938 )
2015
16
Resolution of fibrinogen deficiency in a patient with congenital afibrinogenemia after liver transplantation. ( 26421965 )
2015
17
Targeted mutation of zebrafish fga models human congenital afibrinogenemia. ( 24553182 )
2014
18
Recurrent myocardial infarction in a case of congenital afibrinogenemia. ( 24949183 )
2014
19
Recurrent massive haemoperitoneum associated with ruptured corpus luteum in women with congenital afibrinogenemia; case report. ( 28913028 )
2014
20
Congenital afibrinogenemia in a new born: a rare cause for bleeding. ( 24509333 )
2014
21
Spontaneous splenic rupture in a patient with congenital afibrinogenemia. ( 26078670 )
2014
22
A case of congenital afibrinogenemia complicated with thromboembolic events that required repeated amputations. ( 25255238 )
2014
23
Pulmonary embolism in a patient with congenital afibrinogenemia. ( 23855372 )
2013
24
Diagnosis and non-surgical periodontal management in congenital afibrinogenemia: report of a rare case. ( 22323341 )
2012
25
Successful ABO-incompatible kidney transplantation in patient with congenital afibrinogenemia. ( 22624802 )
2012
26
Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia. ( 22732251 )
2012
27
Anaesthetic management of a child with congenital afibrinogenemia - A rare inherited coagulation disorder. ( 22223906 )
2011
28
Chronic subdural hematoma in a patient with congenital afibrinogenemia successfully treated with fibrinogen replacement. ( 22123482 )
2011
29
Recurrent massive hemoperitoneum due to ovulation as a clinical sign in congenital afibrinogenemia. ( 21241266 )
2011
30
Cellulitis on face in a patient with congenital afibrinogenemia. ( 21521918 )
2011
31
A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family. ( 21245743 )
2011
32
Identification and functional characterization of a novel nonsense mutation in FGA accounting for congenital afibrinogenemia in six Egyptian patients. ( 20051841 )
2010
33
Congenital Afibrinogenemia presenting as antenatal intracranial bleed: a case report. ( 20180944 )
2010
34
Severe elbow arthropathy in a patient with congenital afibrinogenemia: a case report. ( 20124074 )
2010
35
Spontaneous intracranial bleeding in a neonate with congenital afibrinogenemia. ( 20445442 )
2010
36
A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream. ( 19417632 )
2009
37
Spontaneous extra-axial intracranial hemorrhage followed by thrombosis in congenital afibrinogenemia: perioperative management of this rare combination. ( 18295846 )
2009
38
Spinal cord infarction in congenital afibrinogenemia: a case report and review of the literature. ( 19560685 )
2009
39
Interstitial pregnancy in a woman with congenital afibrinogenemia. ( 18834350 )
2008
40
Capsule endoscopy findings in congenital afibrinogenemia-associated angiopathy. ( 19003752 )
2008
41
Treatment of congenital afibrinogenemia in a premature neonate. ( 18559953 )
2008
42
Congenital afibrinogenemia diagnosis by estimating plasma fibrinogen by conventional method with clinical correlation. ( 18603723 )
2008
43
Retrochorionic hematoma in congenital afibrinogenemia: resolution with fibrinogen concentrate infusions. ( 17034026 )
2007
44
Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations. ( 17295221 )
2007
45
Aortic valve repair in a patient with congenital afibrinogenemia. ( 16301232 )
2005
46
Mesenteric venous thrombosis in a patient with congenital afibrinogenemia and diffuse peritonitis. ( 15503018 )
2005
47
Coxopathy in congenital afibrinogenemia. ( 16357746 )
2005
48
[Congenital afibrinogenemia associated with a novel nonsense mutation in the FGA gene]. ( 15946522 )
2005
49
Congenital afibrinogenemia complicated by spontaneous cerebral hemorrhage and unusually quick resorption. ( 15726270 )
2005
50
Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia. ( 16195396 )
2005

Variations for Afibrinogenemia, Congenital

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

76 (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 top 50) (show all 185)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGG NM_021870.2(FGG): c.78+5G> A single nucleotide variant Pathogenic rs587776837 GRCh38 Chromosome 4, 154612527: 154612527
2 FGG NM_021870.2(FGG): c.78+5G> A single nucleotide variant Pathogenic rs587776837 GRCh37 Chromosome 4, 155533679: 155533679
3 FGG NM_021870.2(FGG): c.307+5G> A single nucleotide variant Pathogenic rs587776838 GRCh37 Chromosome 4, 155533165: 155533165
4 FGG NM_021870.2(FGG): c.307+5G> A single nucleotide variant Pathogenic rs587776838 GRCh38 Chromosome 4, 154612013: 154612013
5 FGG NM_021870.2(FGG): c.667-320A> T single nucleotide variant Pathogenic rs587776839 GRCh38 Chromosome 4, 154608970: 154608970
6 FGG NM_021870.2(FGG): c.667-320A> T single nucleotide variant Pathogenic rs587776839 GRCh37 Chromosome 4, 155530122: 155530122
7 FGB NM_005141.4(FGB): c.1433G> A (p.Arg478Lys) single nucleotide variant Benign/Likely benign, other rs4220 GRCh37 Chromosome 4, 155491759: 155491759
8 FGB NM_005141.4(FGB): c.1433G> A (p.Arg478Lys) single nucleotide variant Benign/Likely benign, other rs4220 GRCh38 Chromosome 4, 154570607: 154570607
9 FGB NM_005141.4(FGB): c.1148T> G (p.Leu383Arg) single nucleotide variant Pathogenic rs121909621 GRCh37 Chromosome 4, 155490855: 155490855
10 FGB NM_005141.4(FGB): c.1148T> G (p.Leu383Arg) single nucleotide variant Pathogenic rs121909621 GRCh38 Chromosome 4, 154569703: 154569703
11 FGB NM_005141.4(FGB): c.1289G> A (p.Gly430Asp) single nucleotide variant Pathogenic rs121909622 GRCh37 Chromosome 4, 155491615: 155491615
12 FGB NM_005141.4(FGB): c.1289G> A (p.Gly430Asp) single nucleotide variant Pathogenic rs121909622 GRCh38 Chromosome 4, 154570463: 154570463
13 FGB NM_005141.4(FGB): c.958+13C> T single nucleotide variant Pathogenic rs606231223 GRCh38 Chromosome 4, 154569320: 154569320
14 FGB NM_005141.4(FGB): c.958+13C> T single nucleotide variant Pathogenic rs606231223 GRCh37 Chromosome 4, 155490472: 155490472
15 FGB NM_005141.4(FGB): c.1244+1G> T single nucleotide variant Pathogenic rs606231224 GRCh38 Chromosome 4, 154569800: 154569800
16 FGB NM_005141.4(FGB): c.1244+1G> T single nucleotide variant Pathogenic rs606231224 GRCh37 Chromosome 4, 155490952: 155490952
17 FGB NM_005141.4(FGB): c.605T> A (p.Leu202Gln) single nucleotide variant Pathogenic rs121909624 GRCh37 Chromosome 4, 155488859: 155488859
18 FGB NM_005141.4(FGB): c.605T> A (p.Leu202Gln) single nucleotide variant Pathogenic rs121909624 GRCh38 Chromosome 4, 154567707: 154567707
19 FGB NM_005141.4(FGB): c.139C> T (p.Arg47Ter) single nucleotide variant Pathogenic rs121909625 GRCh37 Chromosome 4, 155486984: 155486984
20 FGB NM_005141.4(FGB): c.139C> T (p.Arg47Ter) single nucleotide variant Pathogenic rs121909625 GRCh38 Chromosome 4, 154565832: 154565832
21 FGA NC_000004.12 deletion Pathogenic GRCh38 Chromosome 4, 154580323: 154590216
22 FGA NM_000508.4(FGA): c.510+1G> T single nucleotide variant Pathogenic rs146387238 GRCh37 Chromosome 4, 155508663: 155508663
23 FGA NM_000508.4(FGA): c.510+1G> T single nucleotide variant Pathogenic rs146387238 GRCh38 Chromosome 4, 154587511: 154587511
24 FGA NM_000508.4(FGA): c.711dup (p.Lys238Terfs) duplication Pathogenic rs606231225 GRCh38 Chromosome 4, 154586718: 154586718
25 FGA NM_000508.4(FGA): c.711dup (p.Lys238Terfs) duplication Pathogenic rs606231225 GRCh37 Chromosome 4, 155507870: 155507870
26 FGA NM_000508.4(FGA): c.991A> G (p.Thr331Ala) single nucleotide variant Benign rs6050 GRCh37 Chromosome 4, 155507590: 155507590
27 FGA NM_000508.4(FGA): c.991A> G (p.Thr331Ala) single nucleotide variant Benign rs6050 GRCh38 Chromosome 4, 154586438: 154586438
28 FGB NM_005141.4(FGB): c.567C> T (p.Ser189=) single nucleotide variant Benign rs6056 GRCh37 Chromosome 4, 155488821: 155488821
29 FGB NM_005141.4(FGB): c.567C> T (p.Ser189=) single nucleotide variant Benign rs6056 GRCh38 Chromosome 4, 154567669: 154567669
30 FGB NM_005141.4(FGB): c.843G> T (p.Val281=) single nucleotide variant Benign/Likely benign rs6058 GRCh37 Chromosome 4, 155490344: 155490344
31 FGB NM_005141.4(FGB): c.843G> T (p.Val281=) single nucleotide variant Benign/Likely benign rs6058 GRCh38 Chromosome 4, 154569192: 154569192
32 FGB NM_005141.4(FGB): c.959-13_959-10delGTTT deletion Benign rs140114081 GRCh37 Chromosome 4, 155490653: 155490656
33 FGB NM_005141.4(FGB): c.959-13_959-10delGTTT deletion Benign rs140114081 GRCh38 Chromosome 4, 154569501: 154569504
34 FGB NM_005141.4(FGB): c.1125C> T (p.Tyr375=) single nucleotide variant Benign/Likely benign rs4681 GRCh37 Chromosome 4, 155490832: 155490832
35 FGB NM_005141.4(FGB): c.1125C> T (p.Tyr375=) single nucleotide variant Benign/Likely benign rs4681 GRCh38 Chromosome 4, 154569680: 154569680
36 FGB NM_005141.4(FGB): c.4A> G (p.Lys2Glu) single nucleotide variant Uncertain significance rs6053 GRCh38 Chromosome 4, 154563022: 154563022
37 FGB NM_005141.4(FGB): c.4A> G (p.Lys2Glu) single nucleotide variant Uncertain significance rs6053 GRCh37 Chromosome 4, 155484174: 155484174
38 FGB NM_005141.4(FGB): c.332A> G (p.Gln111Arg) single nucleotide variant Uncertain significance rs758080375 GRCh38 Chromosome 4, 154566514: 154566514
39 FGB NM_005141.4(FGB): c.332A> G (p.Gln111Arg) single nucleotide variant Uncertain significance rs758080375 GRCh37 Chromosome 4, 155487666: 155487666
40 FGB NM_005141.4(FGB): c.564T> C (p.Asn188=) single nucleotide variant Uncertain significance rs759250713 GRCh38 Chromosome 4, 154567666: 154567666
41 FGB NM_005141.4(FGB): c.564T> C (p.Asn188=) single nucleotide variant Uncertain significance rs759250713 GRCh37 Chromosome 4, 155488818: 155488818
42 FGB NM_005141.4(FGB): c.*361A> T single nucleotide variant Uncertain significance rs886059143 GRCh38 Chromosome 4, 154571011: 154571011
43 FGB NM_005141.4(FGB): c.*361A> T single nucleotide variant Uncertain significance rs886059143 GRCh37 Chromosome 4, 155492163: 155492163
44 FGB NM_005141.4(FGB): c.*592G> A single nucleotide variant Uncertain significance rs376470048 GRCh38 Chromosome 4, 154571242: 154571242
45 FGB NM_005141.4(FGB): c.*592G> A single nucleotide variant Uncertain significance rs376470048 GRCh37 Chromosome 4, 155492394: 155492394
46 FGB NM_005141.4(FGB): c.*619T> C single nucleotide variant Benign rs2227439 GRCh38 Chromosome 4, 154571269: 154571269
47 FGB NM_005141.4(FGB): c.*619T> C single nucleotide variant Benign rs2227439 GRCh37 Chromosome 4, 155492421: 155492421
48 FGB NM_005141.4(FGB): c.*1372T> A single nucleotide variant Uncertain significance rs371670019 GRCh38 Chromosome 4, 154572022: 154572022
49 FGB NM_005141.4(FGB): c.*1372T> A single nucleotide variant Uncertain significance rs371670019 GRCh37 Chromosome 4, 155493174: 155493174
50 FGB NM_005141.4(FGB): c.*1517T> C single nucleotide variant Likely benign rs2059502 GRCh38 Chromosome 4, 154572167: 154572167

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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.99 F2 F3 FGA FGB FGG PLAT
2
Show member pathways
12.6 F2 F3 FGA FGB FGG SERPINC1
3
Show member pathways
11.95 FGA FGB FGG VWF
4
Show member pathways
11.89 FGA FGB FGG VWF
5 11.84 C3 CFI F2 F3 FGA FGB
6 11.83 FGA FGB FGG VWF
7
Show member pathways
11.71 F2 FGA FGB FGG VWF
8 11.5 C3 CFI FGG
9
Show member pathways
11.48 F2 F3 FGA FGB FGG PLAT
10 11.36 FGA FGB FGG PLAT
11 11.26 F2 FGA FGB FGG VWF
12 10.62 PLAT 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 endoplasmic reticulum lumen GO:0005788 9.88 C3 F2 FGA FGG SERPINC1
3 external side of plasma membrane GO:0009897 9.8 F2 FGA FGB FGG
4 platelet alpha granule lumen GO:0031093 9.8 FGA FGB FGG SERPINF2 VWF
5 platelet alpha granule GO:0031091 9.67 FGA FGB FGG VWF
6 blood microparticle GO:0072562 9.5 C3 F2 FGA FGB FGG SERPINC1
7 fibrinogen complex GO:0005577 9.46 FGA FGB FGG SERPINF2
8 collagen-containing extracellular matrix GO:0062023 9.23 F3 FGA FGB FGG PLAT SERPINC1
9 extracellular exosome GO:0070062 10.13 C3 CFI F2 FGA FGB FGG
10 extracellular space GO:0005615 10.02 C3 CFI F2 F3 FGA FGB
11 extracellular region GO:0005576 10 C3 CFI F2 F3 FGA FGB

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

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.96 C3 CFI FGA FGB
2 post-translational protein modification GO:0043687 9.93 C3 FGA FGG SERPINC1
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.91 FGA FGB FGG SERPINF2
4 extracellular matrix organization GO:0030198 9.9 FGA FGB FGG VWF
5 cellular protein metabolic process GO:0044267 9.85 C3 F2 FGA FGG SERPINC1
6 negative regulation of endopeptidase activity GO:0010951 9.83 C3 SERPINC1 SERPINF2
7 regulation of complement activation GO:0030449 9.81 C3 CFI F2
8 cell-matrix adhesion GO:0007160 9.8 FGA FGB FGG
9 response to calcium ion GO:0051592 9.78 FGA FGB FGG
10 platelet aggregation GO:0070527 9.77 FGA FGB FGG
11 platelet degranulation GO:0002576 9.77 FGA FGB FGG SERPINF2 VWF
12 positive regulation of protein secretion GO:0050714 9.76 FGA FGB FGG
13 blood coagulation GO:0007596 9.76 F2 F3 FGA FGB FGG PLAT
14 toll-like receptor signaling pathway GO:0002224 9.75 FGA FGB FGG
15 negative regulation of endothelial cell apoptotic process GO:2000352 9.74 FGA FGB FGG
16 positive regulation of substrate adhesion-dependent cell spreading GO:1900026 9.73 FGA FGB FGG
17 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.72 FGA FGB FGG
18 platelet activation GO:0030168 9.72 F2 FGA FGB FGG VWF
19 positive regulation of vasoconstriction GO:0045907 9.71 FGA FGB FGG
20 positive regulation of exocytosis GO:0045921 9.7 FGA FGB FGG
21 cellular protein-containing complex assembly GO:0034622 9.69 FGA FGB FGG
22 acute-phase response GO:0006953 9.67 F2 SERPINF2
23 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.67 FGA FGB FGG
24 negative regulation of proteolysis GO:0045861 9.66 F2 PLAT
25 positive regulation of collagen biosynthetic process GO:0032967 9.66 F2 SERPINF2
26 blood coagulation, intrinsic pathway GO:0007597 9.65 F2 VWF
27 protein polymerization GO:0051258 9.65 FGA FGB FGG
28 regulation of blood coagulation GO:0030193 9.64 F2 SERPINC1
29 negative regulation of fibrinolysis GO:0051918 9.63 F2 SERPINF2
30 induction of bacterial agglutination GO:0043152 9.62 FGA FGB
31 positive regulation of peptide hormone secretion GO:0090277 9.61 FGA FGB FGG
32 blood coagulation, fibrin clot formation GO:0072378 9.58 FGA FGB FGG
33 plasminogen activation GO:0031639 9.56 FGA FGB FGG PLAT
34 fibrinolysis GO:0042730 9.43 F2 FGA FGB FGG PLAT SERPINF2
35 hemostasis GO:0007599 9.17 F2 F3 FGA FGB FGG SERPINC1

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

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.63 FGA FGB FGG
2 serine-type peptidase activity GO:0008236 9.58 CFI F2 PLAT
3 extracellular matrix structural constituent GO:0005201 9.56 FGA FGB FGG VWF
4 cell adhesion molecule binding GO:0050839 9.5 FGA FGB FGG
5 protease binding GO:0002020 9.46 F3 SERPINC1 SERPINF2 VWF
6 endopeptidase inhibitor activity GO:0004866 9.43 C3 SERPINF2
7 serine-type endopeptidase activity GO:0004252 9.35 C3 CFI F2 F3 PLAT
8 signaling receptor binding GO:0005102 9.1 C3 F2 FGA FGB FGG PLAT
9 protein binding GO:0005515 10.11 C3 CFI F2 F3 FGA FGB

Sources for Afibrinogenemia, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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