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MCID: AFB002
MIFTS: 60

Afibrinogenemia, Congenital

Categories: Genetic diseases, Blood diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Afibrinogenemia, Congenital

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MalaCards integrated aliases for Afibrinogenemia, Congenital:

Name: Afibrinogenemia, Congenital 57 29 13 6 40
Congenital Afibrinogenemia 12 76 25 75 55 15
Afibrinogenemia 25 44 73
Familial Afibrinogenemia 25 59
Complement Factor I Deficiency 73
Hypofibrinogenemia, Congenital 57
Congenital Hypofibrinogenemia 73
Familial Hypofibrinogenemia 59
Fibrinogen Deficiency 12
Factor I Deficiency 12
Hypofibrinogenemia 73
Cafbn 75

Characteristics:

Orphanet epidemiological data:

59
familial afibrinogenemia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;
familial hypofibrinogenemia
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
afibrinogenemia, congenital:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare haematological diseases


Sources

Summaries for Afibrinogenemia, Congenital

About this section
OMIM : 57 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 glomerulonephritis. An important gene associated with Afibrinogenemia, 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 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 abnormal bleeding

UniProtKB/Swiss-Prot : 75 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.

Genetics Home Reference : 25 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.

Wikipedia : 76 Congenital afibrinogenemia is a rare, genetically inherited blood fibrinogen disorder in which the blood... more...

Sources

Related Diseases for Afibrinogenemia, Congenital

About this section

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 135)
# Related Disease Score Top Affiliating Genes
1 complement factor i deficiency 33.4 C3 CFI CR1
2 glomerulonephritis 28.9 C3 CFI CR1
3 systemic lupus erythematosus 26.9 C3 CR1 F3 VWF
4 afibrinogenemia 25.6 C3 CFI CR1 F11 F2 F3
5 fibrinogen deficiency, congenital 12.2
6 insulin-like growth factor i 12.0
7 complement factor h deficiency 10.9
8 complement component 3 deficiency 10.6 C3 CFI
9 enterocolitis 10.6 C3 CFI
10 chronic monocytic leukemia 10.5 C3 F2
11 deafness, autosomal dominant 25 10.5 C3 F8
12 ascending cholangitis 10.5 C3 F2
13 dysfibrinogenemia, congenital 10.5 FGA FGB FGG
14 vitamin k deficiency hemorrhagic disease 10.4 F2 F8
15 retinal artery occlusion 10.4 F2 F8
16 cardiac tamponade 10.4 F2 F8
17 fainting 10.4 F8 VWF
18 mild hemophilia a 10.4 F8 VWF
19 von willebrand disease, type 2 10.4 F8 VWF
20 von willebrand disease, type 3 10.4 F8 VWF
21 cerebral arteritis 10.4 F8 VWF
22 thrombophlebitis 10.4 F2 F8
23 post-thrombotic syndrome 10.4 F2 F8
24 hepatitis e 10.4 F2 FGB
25 autoimmune disease of blood 10.3 C3 VWF
26 hemarthrosis 10.3 F8 VWF
27 compartment syndrome 10.3 F2 F8
28 active peptic ulcer disease 10.3 F2 VWF
29 chronic thromboembolic pulmonary hypertension 10.3 F2 FGA FGB
30 dysbaric osteonecrosis 10.3 C3 F3
31 lymphangiosarcoma 10.3 F8 VWF
32 cerebral falx meningioma 10.2 F2 F3
33 intestinal impaction 10.2 F2 F3
34 cerebral sinovenous thrombosis 10.2 F2 F3
35 degeneration of macula and posterior pole 10.2 C3 CFI
36 leech infestation 10.2 F2 F3
37 giant hemangioma 10.2 F2 F3
38 sagittal sinus thrombosis 10.2 F2 F3
39 multicentric castleman disease 10.2 F3 F8
40 blue toe syndrome 10.2 F2 F3
41 intracranial embolism 10.2 F2 F3
42 femoral neuropathy 10.2 F2 F3
43 factor xiii deficiency 10.2 F3 F8
44 hantavirus pulmonary syndrome 10.2 F2 F3
45 anterior cranial fossa meningioma 10.2 F2 F3
46 splenic disease 10.2 F2 F3
47 spotted fever 10.2 F2 VWF
48 marantic endocarditis 10.2 F2 F3
49 purpura fulminans 10.2 F2 F3
50 hepatic infarction 10.1 F2 F3

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



Diseases related to Afibrinogenemia, Congenital
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Symptoms & Phenotypes for Afibrinogenemia, Congenital

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Symptoms via clinical synopsis from OMIM:

57
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:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint swelling 59 32 hallmark (90%) Very frequent (99-80%) HP:0001386
2 abnormal bleeding 59 32 Very frequent (99-80%),Very frequent (99-80%) HP:0001892
3 gastrointestinal hemorrhage 59 32 hallmark (90%) Very frequent (99-80%) HP:0002239
4 epistaxis 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000421
5 gingival bleeding 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000225
6 cerebral hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0001342
7 menometrorrhagia 59 32 hallmark (90%) Very frequent (99-80%) HP:0400008
8 spontaneous abortion 59 32 hallmark (90%) Very frequent (99-80%) HP:0005268
9 splenic rupture 32 HP:0012223
10 hypofibrinogenemia 32 HP:0011900

MGI Mouse Phenotypes related to Afibrinogenemia, Congenital:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.92 F3 FGA FGB C3 FGG F11
2 hematopoietic system MP:0005397 9.91 F3 F8 FGA C3 FGG CFI
3 homeostasis/metabolism MP:0005376 9.81 F3 F8 FGA C3 FGG CFI
4 immune system MP:0005387 9.56 F3 F8 FGA C3 FGG F11
5 reproductive system MP:0005389 9.1 F8 FGA FGB C3 FGG F2
Sources

Drugs & Therapeutics for Afibrinogenemia, Congenital

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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 13)
# 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 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
5 Pharmacokinetic, Efficacy and Safety of BT524 in Patients With Congenital Fibrinogen Deficiency Recruiting NCT02065882 Phase 3
6 Study to Assess the Efficacy, Safety and Pharmacokinetic of Octafibrin in Paediatric Subjects With Fibrinogen Deficiency Recruiting NCT02408484 Phase 3
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
13 Quality of Life in Patients With Congenital Afibrinogenemia Recruiting NCT03484065

Search NIH Clinical Center for Afibrinogenemia, Congenital

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: afibrinogenemia

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Genetic Tests for Afibrinogenemia, Congenital

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Genetic tests related to Afibrinogenemia, Congenital:

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

Anatomical Context for Afibrinogenemia, Congenital

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MalaCards organs/tissues related to Afibrinogenemia, Congenital:

41
Liver, Skin, Brain, Tongue, Spleen, Heart, Spinal Cord
Sources

Publications for Afibrinogenemia, Congenital

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Articles related to Afibrinogenemia, Congenital:

(show top 50) (show all 127)
# Title Authors Year
1
Administering RiaSTAP for Congenital Afibrinogenemia During Liver Transplant. ( 29766777 )
2018
2
Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population. ( 28912669 )
2017
3
Congenital afibrinogenemia: a case report of a spontaneous hepatic hematoma. ( 27428204 )
2016
4
[Congenital afibrinogenemia: about a case]. ( 28293349 )
2016
5
Severe Thrombotic Complications in Congenital Afibrinogenemia: A Pathophysiological and Management Dilemma. ( 27253088 )
2016
6
Perioperative Coagulation Management in a Patient with Congenital Afibrinogenemia during Revision Total Hip Arthroplasty. ( 27472424 )
2016
7
A Rare Complication Of Congenital Afibrinogenemia: Bone Cysts. ( 27094883 )
2016
8
Post-authorization safety study of Clottafact(Ar) , a triply secured fibrinogen concentrate in congenital afibrinogenemia. A prospective observational study. ( 27583698 )
2016
9
Congenital afibrinogenemia: from etiopathogenesis to challenging clinical management. ( 27291795 )
2016
10
Fibrinogen Martin: A Novel Mutation in FGB (Gln180Stop) Causing Congenital Afibrinogenemia. ( 27148845 )
2016
11
Congenital afibrinogenemia: Identification and characterization of two novel homozygous fibrinogen AI+ and BI^ chain mutations in two Tunisian families. ( 27164460 )
2016
12
Umbilical bleeding: a presenting feature for congenital afibrinogenemia. ( 26407137 )
2015
13
Thrombosis of abdominal aorta in congenital afibrinogenemia: case report and review of literature. ( 25421938 )
2015
14
Resolution of fibrinogen deficiency in a patient with congenital afibrinogenemia after liver transplantation. ( 26421965 )
2015
15
Targeted mutation of zebrafish fga models human congenital afibrinogenemia. ( 24553182 )
2014
16
Recurrent myocardial infarction in a case of congenital afibrinogenemia. ( 24949183 )
2014
17
Recurrent massive haemoperitoneum associated with ruptured corpus luteum in women with congenital afibrinogenemia; case report. ( 28913028 )
2014
18
Congenital afibrinogenemia in a new born: a rare cause for bleeding. ( 24509333 )
2014
19
Spontaneous splenic rupture in a patient with congenital afibrinogenemia. ( 26078670 )
2014
20
A case of congenital afibrinogenemia complicated with thromboembolic events that required repeated amputations. ( 25255238 )
2014
21
Pulmonary embolism in a patient with congenital afibrinogenemia. ( 23855372 )
2013
22
Diagnosis and non-surgical periodontal management in congenital afibrinogenemia: report of a rare case. ( 22323341 )
2012
23
Successful ABO-incompatible kidney transplantation in patient with congenital afibrinogenemia. ( 22624802 )
2012
24
Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia. ( 22732251 )
2012
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
Recurrent massive hemoperitoneum due to ovulation as a clinical sign in congenital afibrinogenemia. ( 21241266 )
2011
28
Cellulitis on face in a patient with congenital afibrinogenemia. ( 21521918 )
2011
29
A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family. ( 21245743 )
2011
30
Identification and functional characterization of a novel nonsense mutation in FGA accounting for congenital afibrinogenemia in six Egyptian patients. ( 20051841 )
2010
31
Congenital Afibrinogenemia presenting as antenatal intracranial bleed: a case report. ( 20180944 )
2010
32
Severe elbow arthropathy in a patient with congenital afibrinogenemia: a case report. ( 20124074 )
2010
33
Spontaneous intracranial bleeding in a neonate with congenital afibrinogenemia. ( 20445442 )
2010
34
A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream. ( 19417632 )
2009
35
Spontaneous extra-axial intracranial hemorrhage followed by thrombosis in congenital afibrinogenemia: perioperative management of this rare combination. ( 18295846 )
2009
36
Spinal cord infarction in congenital afibrinogenemia: a case report and review of the literature. ( 19560685 )
2009
37
Interstitial pregnancy in a woman with congenital afibrinogenemia. ( 18834350 )
2008
38
Capsule endoscopy findings in congenital afibrinogenemia-associated angiopathy. ( 19003752 )
2008
39
Treatment of congenital afibrinogenemia in a premature neonate. ( 18559953 )
2008
40
Congenital afibrinogenemia diagnosis by estimating plasma fibrinogen by conventional method with clinical correlation. ( 18603723 )
2008
41
Retrochorionic hematoma in congenital afibrinogenemia: resolution with fibrinogen concentrate infusions. ( 17034026 )
2007
42
Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations. ( 17295221 )
2007
43
Aortic valve repair in a patient with congenital afibrinogenemia. ( 16301232 )
2005
44
Mesenteric venous thrombosis in a patient with congenital afibrinogenemia and diffuse peritonitis. ( 15503018 )
2005
45
Coxopathy in congenital afibrinogenemia. ( 16357746 )
2005
46
[Congenital afibrinogenemia associated with a novel nonsense mutation in the FGA gene]. ( 15946522 )
2005
47
Congenital afibrinogenemia complicated by spontaneous cerebral hemorrhage and unusually quick resorption. ( 15726270 )
2005
48
Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia. ( 16195396 )
2005
49
Case 1-2005: cardiac surgery in congenital afibrinogenemia with thrombo-occlusive disease. ( 15747281 )
2005
50
Hemi-spinal cord infarction due to vertebral artery dissection in congenital afibrinogenemia. ( 15505182 )
2004
Sources

Variations for Afibrinogenemia, Congenital

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

75 (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 177)
# 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.1148T> G (p.Leu383Arg) single nucleotide variant Pathogenic rs121909621 GRCh37 Chromosome 4, 155490855: 155490855
8 FGB NM_005141.4(FGB): c.1148T> G (p.Leu383Arg) single nucleotide variant Pathogenic rs121909621 GRCh38 Chromosome 4, 154569703: 154569703
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.1289G> A (p.Gly430Asp) single nucleotide variant Pathogenic rs121909622 GRCh38 Chromosome 4, 154570463: 154570463
11 FGB NM_005141.4(FGB): c.958+13C> T single nucleotide variant Pathogenic rs606231223 GRCh38 Chromosome 4, 154569320: 154569320
12 FGB NM_005141.4(FGB): c.958+13C> T single nucleotide variant Pathogenic rs606231223 GRCh37 Chromosome 4, 155490472: 155490472
13 FGB NM_005141.4(FGB): c.1244+1G> T single nucleotide variant Pathogenic rs606231224 GRCh38 Chromosome 4, 154569800: 154569800
14 FGB NM_005141.4(FGB): c.1244+1G> T single nucleotide variant Pathogenic rs606231224 GRCh37 Chromosome 4, 155490952: 155490952
15 FGB NM_005141.4(FGB): c.605T> A (p.Leu202Gln) single nucleotide variant Pathogenic rs121909624 GRCh37 Chromosome 4, 155488859: 155488859
16 FGB NM_005141.4(FGB): c.605T> A (p.Leu202Gln) single nucleotide variant Pathogenic rs121909624 GRCh38 Chromosome 4, 154567707: 154567707
17 FGB NM_005141.4(FGB): c.139C> T (p.Arg47Ter) single nucleotide variant Pathogenic rs121909625 GRCh37 Chromosome 4, 155486984: 155486984
18 FGB NM_005141.4(FGB): c.139C> T (p.Arg47Ter) single nucleotide variant Pathogenic rs121909625 GRCh38 Chromosome 4, 154565832: 154565832
19 FGA NC_000004.12 deletion Pathogenic GRCh38 Chromosome 4, 154580323: 154590216
20 FGA NM_000508.4(FGA): c.510+1G> T single nucleotide variant Pathogenic rs146387238 GRCh37 Chromosome 4, 155508663: 155508663
21 FGA NM_000508.4(FGA): c.510+1G> T single nucleotide variant Pathogenic rs146387238 GRCh38 Chromosome 4, 154587511: 154587511
22 FGA NM_000508.4(FGA): c.711dupT (p.Lys238Terfs) duplication Pathogenic rs606231225 GRCh38 Chromosome 4, 154586718: 154586718
23 FGA NM_000508.4(FGA): c.711dupT (p.Lys238Terfs) duplication Pathogenic rs606231225 GRCh37 Chromosome 4, 155507870: 155507870
24 FGB NM_005141.4(FGB): c.567C> T (p.Ser189=) single nucleotide variant Benign rs6056 GRCh37 Chromosome 4, 155488821: 155488821
25 FGB NM_005141.4(FGB): c.567C> T (p.Ser189=) single nucleotide variant Benign rs6056 GRCh38 Chromosome 4, 154567669: 154567669
26 FGB NM_005141.4(FGB): c.843G> T (p.Val281=) single nucleotide variant Likely benign rs6058 GRCh37 Chromosome 4, 155490344: 155490344
27 FGB NM_005141.4(FGB): c.843G> T (p.Val281=) single nucleotide variant Likely benign rs6058 GRCh38 Chromosome 4, 154569192: 154569192
28 FGB NM_005141.4(FGB): c.959-13_959-10delGTTT deletion Benign rs140114081 GRCh37 Chromosome 4, 155490653: 155490656
29 FGB NM_005141.4(FGB): c.959-13_959-10delGTTT deletion Benign rs140114081 GRCh38 Chromosome 4, 154569501: 154569504
30 FGB NM_005141.4(FGB): c.1125C> T (p.Tyr375=) single nucleotide variant Likely benign rs4681 GRCh37 Chromosome 4, 155490832: 155490832
31 FGB NM_005141.4(FGB): c.1125C> T (p.Tyr375=) single nucleotide variant Likely benign rs4681 GRCh38 Chromosome 4, 154569680: 154569680
32 FGB NM_005141.4(FGB): c.4A> G (p.Lys2Glu) single nucleotide variant Uncertain significance rs6053 GRCh38 Chromosome 4, 154563022: 154563022
33 FGB NM_005141.4(FGB): c.4A> G (p.Lys2Glu) single nucleotide variant Uncertain significance rs6053 GRCh37 Chromosome 4, 155484174: 155484174
34 FGB NM_005141.4(FGB): c.332A> G (p.Gln111Arg) single nucleotide variant Uncertain significance rs758080375 GRCh38 Chromosome 4, 154566514: 154566514
35 FGB NM_005141.4(FGB): c.332A> G (p.Gln111Arg) single nucleotide variant Uncertain significance rs758080375 GRCh37 Chromosome 4, 155487666: 155487666
36 FGB NM_005141.4(FGB): c.564T> C (p.Asn188=) single nucleotide variant Uncertain significance rs759250713 GRCh38 Chromosome 4, 154567666: 154567666
37 FGB NM_005141.4(FGB): c.564T> C (p.Asn188=) single nucleotide variant Uncertain significance rs759250713 GRCh37 Chromosome 4, 155488818: 155488818
38 FGB NM_005141.4(FGB): c.*361A> T single nucleotide variant Uncertain significance rs886059143 GRCh38 Chromosome 4, 154571011: 154571011
39 FGB NM_005141.4(FGB): c.*361A> T single nucleotide variant Uncertain significance rs886059143 GRCh37 Chromosome 4, 155492163: 155492163
40 FGB NM_005141.4(FGB): c.*592G> A single nucleotide variant Uncertain significance rs376470048 GRCh38 Chromosome 4, 154571242: 154571242
41 FGB NM_005141.4(FGB): c.*592G> A single nucleotide variant Uncertain significance rs376470048 GRCh37 Chromosome 4, 155492394: 155492394
42 FGB NM_005141.4(FGB): c.*619T> C single nucleotide variant Benign rs2227439 GRCh38 Chromosome 4, 154571269: 154571269
43 FGB NM_005141.4(FGB): c.*619T> C single nucleotide variant Benign rs2227439 GRCh37 Chromosome 4, 155492421: 155492421
44 FGB NM_005141.4(FGB): c.*1372T> A single nucleotide variant Uncertain significance rs371670019 GRCh37 Chromosome 4, 155493174: 155493174
45 FGB NM_005141.4(FGB): c.*1372T> A single nucleotide variant Uncertain significance rs371670019 GRCh38 Chromosome 4, 154572022: 154572022
46 FGB NM_005141.4(FGB): c.*1517T> C single nucleotide variant Likely benign rs2059502 GRCh37 Chromosome 4, 155493319: 155493319
47 FGB NM_005141.4(FGB): c.*1517T> C single nucleotide variant Likely benign rs2059502 GRCh38 Chromosome 4, 154572167: 154572167
48 FGB NM_005141.4(FGB): c.*1544T> C single nucleotide variant Uncertain significance rs886059147 GRCh37 Chromosome 4, 155493346: 155493346
49 FGB NM_005141.4(FGB): c.*1544T> C single nucleotide variant Uncertain significance rs886059147 GRCh38 Chromosome 4, 154572194: 154572194
50 FGB NM_005141.4(FGB): c.*1550C> T single nucleotide variant Benign rs1044291 GRCh37 Chromosome 4, 155493352: 155493352
Sources

Expression for Afibrinogenemia, Congenital

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

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Response to elevated platelet cytosolic Ca2+ 66
Show member pathways
 13.05 F11 F2 F3 F8 FGA FGB
2
Collagen chain trimerization 66
Show member pathways
 12.59 F11 F2 F3 F8 FGA FGB
3
Signaling by moderate kinase activity BRAF mutants 66
Show member pathways
 12.1 FGA FGB FGG VWF
4
ECM-receptor interaction 37
Show member pathways
 11.93 FGA FGB FGG VWF
5
Creation of C4 and C2 activators 66
Show member pathways
 11.87 C3 CFI CR1
6
Oncogenic MAPK signaling 66
Show member pathways
 11.87 FGA FGB FGG VWF
7
Immune response Lectin induced complement pathway 22
Show member pathways
 11.83 C3 CFI CR1
8
Platelet activation 37
11.79 FGA FGB FGG VWF
9
Formation of Fibrin Clot (Clotting Cascade) 66
Show member pathways
 11.76 F11 F2 F3 F8 FGA FGB
10
Integrin alphaIIb beta3 signaling 66
Show member pathways
 11.65 F2 FGA FGB FGG VWF
11
Complement and coagulation cascades 1 37
11.51 C3 CFI CR1 F11 F2 F3
12
Staphylococcus aureus infection 37
11.43 C3 CFI FGG
13
Cell adhesion_Plasmin signaling 22
11.34 FGA FGB FGG
14
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 61
11.26 F2 FGA FGB FGG VWF
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GO Terms for Afibrinogenemia, Congenital

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.91 C3 CFI F11 F2 F3 F8
2 cell surface GO:0009986 9.85 CR1 F3 FGA FGB FGG
3 extracellular region GO:0005576 9.85 C3 CFI F11 F2 F3 F8
4 endoplasmic reticulum lumen GO:0005788 9.83 C3 F2 F8 FGA FGG
5 blood microparticle GO:0072562 9.8 C3 F2 FGA FGB FGG
6 external side of plasma membrane GO:0009897 9.78 F2 FGA FGB FGG
7 fibrinogen complex GO:0005577 9.54 FGA FGB FGG
8 platelet alpha granule lumen GO:0031093 9.35 F8 FGA FGB FGG VWF
9 platelet alpha granule GO:0031091 8.92 FGA FGB FGG VWF
10 plasma membrane GO:0005886 10.15 C3 CR1 F11 F2 F3 F8
11 extracellular exosome GO:0070062 10.02 C3 CFI CR1 F11 F2 F3

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.95 C3 CR1 FGA FGB
2 cellular protein metabolic process GO:0044267 9.91 C3 F2 FGA FGG
3 extracellular matrix organization GO:0030198 9.91 FGA FGB FGG VWF
4 regulation of complement activation GO:0030449 9.84 C3 CFI CR1 F2
5 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.83 FGA FGB FGG
6 platelet degranulation GO:0002576 9.83 F8 FGA FGB FGG VWF
7 complement activation, classical pathway GO:0006958 9.82 C3 CFI CR1
8 cell-matrix adhesion GO:0007160 9.81 FGA FGB FGG
9 response to calcium ion GO:0051592 9.8 FGA FGB FGG
10 toll-like receptor signaling pathway GO:0002224 9.77 FGA FGB FGG
11 platelet aggregation GO:0070527 9.77 FGA FGB FGG
12 positive regulation of protein secretion GO:0050714 9.76 FGA FGB FGG
13 negative regulation of endothelial cell apoptotic process GO:2000352 9.75 FGA FGB FGG
14 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.74 FGA FGB FGG
15 positive regulation of vasoconstriction GO:0045907 9.73 FGA FGB FGG
16 positive regulation of substrate adhesion-dependent cell spreading GO:1900026 9.72 FGA FGB FGG
17 positive regulation of exocytosis GO:0045921 9.7 FGA FGB FGG
18 cellular protein-containing complex assembly GO:0034622 9.69 FGA FGB FGG
19 protein polymerization GO:0051258 9.67 FGA FGB FGG
20 fibrinolysis GO:0042730 9.67 F2 FGA FGB FGG
21 acute-phase response GO:0006953 9.65 F2 F8
22 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.65 FGA FGB FGG
23 regulation of blood coagulation GO:0030193 9.64 F11 F2
24 induction of bacterial agglutination GO:0043152 9.63 FGA FGB
25 positive regulation of peptide hormone secretion GO:0090277 9.63 FGA FGB FGG
26 platelet activation GO:0030168 9.63 F2 F8 FGA FGB FGG VWF
27 blood coagulation, intrinsic pathway GO:0007597 9.62 F11 F2 F8 VWF
28 blood coagulation, fibrin clot formation GO:0072378 9.58 FGA FGB FGG
29 plasminogen activation GO:0031639 9.56 F11 FGA FGB FGG
30 blood coagulation GO:0007596 9.56 F11 F2 F3 F8 FGA FGB
31 hemostasis GO:0007599 9.23 F11 F2 F3 F8 FGA FGB
32 innate immune response GO:0045087 10.02 C3 CFI CR1 FGA FGB

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 9.54 FGA FGB FGG
2 serine-type peptidase activity GO:0008236 9.5 CFI F11 F2
3 protein binding, bridging GO:0030674 9.43 FGA FGB FGG
4 signaling receptor binding GO:0005102 9.35 C3 F2 FGA FGB FGG
5 cell adhesion molecule binding GO:0050839 9.33 FGA FGB FGG
6 serine-type endopeptidase activity GO:0004252 9.02 C3 CFI F11 F2 F3
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Sources for Afibrinogenemia, Congenital

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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