CAFBN
MCID: AFB002
MIFTS: 64

Afibrinogenemia, Congenital (CAFBN)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Afibrinogenemia, Congenital

MalaCards integrated aliases for Afibrinogenemia, Congenital:

Name: Afibrinogenemia, Congenital 57 29 13 6 39
Afibrinogenemia 20 43 36 29 54 6 44 71
Congenital Afibrinogenemia 12 74 20 43 73 54 15
Familial Afibrinogenemia 43 58
Complement Factor I Deficiency 71
Hypofibrinogenemia, Congenital 57
Congenital Hypofibrinogenemia 71
Familial Hypofibrinogenemia 58
Afibrinogenemia Congenital 20
Fibrinogen Deficiency 12
Factor I Deficiency 12
Hypofibrinogenemia 71
Cafbn 73

Characteristics:

Orphanet epidemiological data:

58
familial afibrinogenemia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;
familial hypofibrinogenemia
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
afibrinogenemia, congenital:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:2236
OMIM® 57 202400
KEGG 36 H00222
MeSH 44 D000347
NCIt 50 C98130
SNOMED-CT 67 278504009
ICD10 via Orphanet 33 D68.2
UMLS via Orphanet 72 C2584774
UMLS 71 C0001733 C0553681 C2584774 more

Summaries for Afibrinogenemia, Congenital

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) (Updated 05-Mar-2021)

MalaCards based summary : Afibrinogenemia, Congenital, also known as afibrinogenemia, is related to complement factor i deficiency and complement factor h deficiency. An important gene associated with Afibrinogenemia, Congenital is FGG (Fibrinogen Gamma Chain), and among its related pathways/superpathways are Complement and coagulation cascades and Response to elevated platelet cytosolic Ca2+. The drugs Thrombin and Coagulants have been mentioned in the context of this disorder. Affiliated tissues include spleen, tongue and liver, and related phenotypes are joint swelling and gastrointestinal hemorrhage

Disease Ontology : 12 A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I).

MedlinePlus Genetics : 43 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.

GARD : 20 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 concentrates or plasma (the liquid portion of the blood which contains clotting factors).

KEGG : 36 Congenital fibrinogen defects caused by mutation of any of fibrinogen genes (FGA, FGB, and FGG) include both quantitative defects (type I deficiencies or afibrinogenemia) and qualitative defects (type II deficiencies or dysfibrinogenemia). Fibrinogen deficiency and dysfunction are associated with bleeding or thrombosis.

UniProtKB/Swiss-Prot : 73 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 : 74 Congenital afibrinogenemia is a rare, genetically inherited blood fibrinogen disorder in which the blood... more...

Related Diseases for Afibrinogenemia, Congenital

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

(show top 50) (show all 317)
# Related Disease Score Top Affiliating Genes
1 complement factor i deficiency 33.0 CR1 CFP CFI C3
2 complement factor h deficiency 32.0 CFI CD46
3 fibrinogen deficiency, congenital 31.0 FGG FGB FGA
4 spinal cord infarction 30.8 SERPINC1 F2
5 hemopneumothorax 30.4 F3 F2
6 meningitis 30.4 CFP CFI CD46 C3
7 neisseria meningitidis infection 30.2 CFP CD46 C3
8 protein c deficiency 30.1 SERPINE1 SERPINC1 F2 CFP
9 vitamin k deficiency bleeding 30.1 SERPINC1 F8 F3 F2
10 glomerulonephritis 30.1 CR1 CFP CFI CD46 C3
11 genetic atypical hemolytic-uremic syndrome 30.1 CFI CD46 C3
12 giant hemangioma 30.1 SERPINF2 SERPINC1 F3 F2
13 placenta disease 30.0 SERPINC1 F3 F2
14 portal vein thrombosis 30.0 SERPINE1 SERPINC1 PLAT F2
15 budd-chiari syndrome 30.0 SERPINC1 FGB F3 F2
16 alpha-1-antitrypsin deficiency 30.0 SERPINE1 SERPINC1 F2
17 intracranial hypertension 29.9 SERPINE1 SERPINC1 F3 F2
18 bacterial meningitis 29.9 CR1 CFP C3
19 meningococcemia 29.9 SERPINE1 SERPINC1 CFP
20 immune-complex glomerulonephritis 29.8 CFI CFHR2 C3
21 purpura fulminans 29.8 SERPINF2 SERPINC1 F3 F2
22 complement deficiency 29.8 CFP CFI CFHR2 CD46 C3
23 meningococcal meningitis 29.8 CFP CFHR2 C3
24 purpura 29.8 VWF SERPINC1 F3 F2 C3
25 bernard-soulier syndrome 29.8 VWF FGA F8 F3 F2
26 von willebrand's disease 29.6 VWF PLAT F8 F3 F2 F11
27 dysfibrinogenemia, congenital 29.6 SERPINC1 PLAT FGG FGB FGA F2
28 complement component 3 deficiency 29.3 CR1 CFP CFHR2 CD46 C3
29 factor xiii deficiency 29.3 VWF SERPINF2 SERPINE1 SERPINC1 F8 F3
30 acute promyelocytic leukemia 29.1 SERPINF2 SERPINE1 SERPINC1 PLAT F3 F2
31 thrombotic thrombocytopenic purpura 28.9 VWF SERPINF2 SERPINC1 PLAT F3 CFI
32 thrombosis 28.6 VWF SERPINF2 SERPINE1 SERPINC1 PLAT FGG
33 disseminated intravascular coagulation 28.5 VWF SERPINF2 SERPINE1 SERPINC1 PLAT FGA
34 pulmonary embolism 28.5 VWF SERPINF2 SERPINE1 SERPINC1 PLAT FGB
35 systemic lupus erythematosus 28.4 VWF SERPINE1 F3 F2 CR1 CFI
36 myocardial infarction 28.2 VWF SERPINF2 SERPINE1 SERPINC1 PLAT FGB
37 thrombocytopenia 27.9 VWF SERPINE1 SERPINC1 PLAT FGG FGA
38 thrombophilia 27.9 VWF SERPINF2 SERPINE1 SERPINC1 PLAT FGG
39 blood coagulation disease 27.6 VWF SERPINF2 SERPINE1 SERPINC1 PLAT F8
40 insulin-like growth factor i 11.7
41 hypofibrinogenemia, familial 10.9
42 autosomal recessive disease 10.5
43 chronic thromboembolic pulmonary hypertension 10.4 FGB FGA
44 femoral vein thrombophlebitis 10.4 FGG F2
45 achenbach syndrome 10.4 F3 F2
46 renal pelvis squamous cell carcinoma 10.4 F3 F2
47 emphysematous cholecystitis 10.4 F3 F2
48 dieulafoy lesion 10.4 VWF F2
49 thrombotic microangiopathy 10.4 VWF F3
50 lateral sinus thrombosis 10.4 SERPINC1 F2

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:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint swelling 58 31 hallmark (90%) Very frequent (99-80%) HP:0001386
2 gastrointestinal hemorrhage 58 31 hallmark (90%) Very frequent (99-80%) HP:0002239
3 epistaxis 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000421
4 gingival bleeding 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000225
5 spontaneous abortion 58 31 hallmark (90%) Very frequent (99-80%) HP:0005268
6 menometrorrhagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0400008
7 cerebral hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0001342
8 abnormal bleeding 58 31 Very frequent (99-80%),Very frequent (99-80%) HP:0001892
9 hypofibrinogenemia 31 HP:0011900
10 splenic rupture 31 HP:0012223

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Abdomen:
splenic rupture

Lab:
afibrinogenemia

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

Clinical features from OMIM®:

202400 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Afibrinogenemia, Congenital:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.17 C3 CD46 CFP F10 F11 F2
2 homeostasis/metabolism MP:0005376 10.06 C3 CFI CFP F10 F11 F2
3 hematopoietic system MP:0005397 10.03 C3 CFI F11 F3 F8 FGA
4 immune system MP:0005387 9.77 C3 CFI CFP F11 F2 F3
5 mortality/aging MP:0010768 9.47 C3 CFP F10 F11 F2 F3

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
Thrombin Approved, Investigational Phase 2
2 Coagulants Phase 2
3 Protamines Phase 2

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 The Role of Human Fibrinogen Concentrate (RiaSTAP) in Decreasing Blood Loss and the Need for Component Blood Therapy in Infants Undergoing Cardiopulmonary Bypass. Completed NCT02822599 Phase 4 RiaStAP;Saline
2 A Phase IV, Randomized, Single Center, Parallel Group Trial of Human Fibrinogen Concentrate (Haemocomplettan) in the Treatment of Dilutional Coagulopathy During Major Pediatric Surgery Completed NCT01487837 Phase 4 Human fibrinogen concentrate
3 Early Administration of Fibrinogen Concentrate in Polytraumatized Patients With Thromboelastometry Suggestive of Hypofibrinogenemia: a Randomized Feasibility Trial Completed NCT02864875 Phase 4 Fibrinogen concentrate
4 Clinical Pharmacology, Efficacy and Safety Study of FGTW in Paediatric Patients With Severe Congenital Fibrinogen Deficiency Completed NCT02094430 Phase 2, Phase 3 biological: human fibrinogen concentrate
5 Efficacy and Safety of Haemocomplettan® P in Patients Experiencing Microvascular Bleeding While Undergoing Elective Complex Cardiac Surgery Completed NCT01124981 Phase 2, Phase 3 Haemocomplettan® P;Human albumin (Placebo)
6 Prospective, Open-label, Uncontrolled, Phase III Study to Assess the Efficacy, Safety and Pharmacokinetic of Octafibrin for On-demand Treatment of Acute Bleeding and to Prevent Bleeding During and After Surgery in Paediatric Subjects With Congenital Fibrinogen Deficiency Completed NCT02408484 Phase 3
7 Prospective, Open-label, Uncontrolled, Phase III Study to Assess the Efficacy and Safety of Octafibrin for On-demand Treatment of Acute Bleeding and to Prevent Bleeding During and After Surgery in Subjects With Congenital Fibrinogen Deficiency Completed NCT02267226 Phase 3 Octafibrin
8 Prospective, Multi-center, Randomized, Active-control, Non-inferiority Study Comparing Fibrinogen Concentrate With Cryoprecipitate for the Treatment of Acquired Hypofibrinogenemia in Bleeding Adult Cardiac Surgical Patients Completed NCT03037424 Phase 3 Octafibrin;Cryoprecipitate
9 A Prospective, Open-label, Phase I/III Study Investigating Pharmacokinetic Properties of BT524 and Efficacy and Safety of BT524 in the Treatment and Prophylaxis of Bleeding in Patients With Congenital Fibrinogen Deficiency Recruiting NCT02065882 Phase 3
10 A Prospective, Multicenter, Open-label, Single-arm Study to Evaluate the Efficacy and Safety of Human Plasma-derived Fibrinogen Concentrate (FIB Grifols) in Subjects With Congenital Afibrinogenaemia and Severe Hypofibrinogenemia Requiring Either On-demand Treatment for Acute Bleeding or Surgical Prophylaxis Not yet recruiting NCT04636268 Phase 3
11 Efficacy and Safety of Fibrinogen Concentrate (Human) (FCH) for On-demand Treatment of Acute Bleeding in Subjects With Congenital Fibrinogen Deficiency Withdrawn NCT00916656 Phase 3
12 Multicenter, Prospective, Open-Label, Single-Arm Trial to Evaluate the Pharmacokinetics, Efficacy, and Safety of Human Plasma-Derived Fibrinogen (FIB Grifols) in Patients With Congenital Afibrinogenemia Completed NCT02281500 Phase 1, Phase 2
13 A Prospective, Controlled, Randomised, Crossover Study Investigating the Pharmacokinetic Properties, Surrogate Efficacy and Safety of Octafibrin Compared to Haemocomplettan® P/RiaSTAPTM in Patients With Congenital Fibrinogen Deficiency Completed NCT01575756 Phase 2
14 Pharmacokinetics of Haemocomplettan® P in Subjects With Congenital Fibrinogen Deficiency Completed NCT00496262 Phase 2
15 ZEPLAST- PED: ZEro_PLASma Trial in Small Infants Undergoing Cardiac Surgery Randomized Controlled Pilot Phase II Study Recruiting NCT04434001 Phase 2 Fibrinogen Concentrate Human;Prothrombin Complex Concentrate
16 Can we Define a Clinical Score for Predicting of Hypofibrinogenemia in Severe Trauma Completed NCT03020849
17 Quality of Life in Patients With Congenital Afibrinogenemia Completed NCT03484065
18 A Multicenter Study on the Retrospective Safety and Efficacy of Fibrinogen Concentrate (Human) (FCH) for Routine Prophylaxis, Treatment of Bleeding or Surgery in Subjects With Congenital Fibrinogen Deficiency With a Prospective Followup Component Completed NCT02427217
19 Obstetric Outcomes of Women Suffering From Hereditary Fibrinogen Disorders Recruiting NCT03920332
20 Post-marketing Observational Study on the Safety and Efficacy of Fibryga in Congenital Fibrinogen Deficiency Not yet recruiting NCT03793426
21 Trial of RiaSTAP Versus Cryoprecipitate to Lower Operative Transfusions (TOP-CLOT) Terminated NCT02540434 RiaSTAP

Search NIH Clinical Center for Afibrinogenemia, Congenital

Inferred drug relations via UMLS 71 / NDF-RT 51 :


Fibrinogen
FIBRINOGEN,I-125

Cochrane evidence based reviews: afibrinogenemia

Genetic Tests for Afibrinogenemia, Congenital

Genetic tests related to Afibrinogenemia, Congenital:

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

Anatomical Context for Afibrinogenemia, Congenital

MalaCards organs/tissues related to Afibrinogenemia, Congenital:

40
Spleen, Tongue, Liver, Placenta, Bone, Prostate, Brain

Publications for Afibrinogenemia, Congenital

Articles related to Afibrinogenemia, Congenital:

(show top 50) (show all 732)
# Title Authors PMID Year
1
Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia. 57 6 54 61
10891444 2000
2
Missense or splicing mutation? The case of a fibrinogen Bbeta-chain mutation causing severe hypofibrinogenemia. 57 6
15070683 2004
3
The molecular basis of quantitative fibrinogen disorders. 57 61 54
16999847 2006
4
Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes. 61 54 57
11354637 2001
5
Congenital fibrinogen disorders. 57 61
19598064 2009
6
Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta-chain gene causing activation of cryptic splice sites. 61 6
12393540 2002
7
Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia. 6 61
12161363 2002
8
Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation. 6 61
11001902 2000
9
A G-to-A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicing. 6 61
11001903 2000
10
Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion. 6 61
10666208 2000
11
Deletion of the fibrinogen [correction of fibrogen] alpha-chain gene (FGA) causes congenital afibrogenemia. 61 57
9916133 1999
12
Failure of DDAVP to shorten the prolonged bleeding time of two patients with congenital afibrinogenemia. 6 61
1471077 1992
13
Congenital afibrinogenemia in 10 offspring of uncle-niece marriages. 61 57
7363509 1980
14
Afibrinogenemia with intracerebral hematoma. Report of a successfully treated case. 61 57
855840 1977
15
Congenital afibrinogenemia. A case report with some considerations on the hereditary transmission of this disorder. 61 57
5561958 1971
16
[Diagnostic and therapeutic problems in congenital afibrinogenemia]. 61 57
5577071 1971
17
[CONGENITAL AFIBRINOGENEMIA]. 57 61
14061913 1963
18
[Congenital afibrinogenemia; report of a case with multiple bone cysts and formation of a specific antibody (anti fibrinogen) following blood transfusion]. 57 61
13137907 1954
19
Congenital afibrinogenemia; report of a case. 61 57
13036995 1953
20
Umbilical bleeding: a presenting feature for congenital afibrinogenemia. 61 20
26407137 2015
21
Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen gamma-chain gene as a novel mechanism for congenital afibrinogenaemia. 6
17854317 2007
22
Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome. 6
17018561 2007
23
Severe hypodysfibrinogenemia in compound heterozygotes of the fibrinogen AalphaIVS4 + 1G>T mutation and an AalphaGln328 truncation (fibrinogen Keokuk). 6
14615374 2004
24
Molecular characterization of homozygous hereditary factor I deficiency. 6
12562389 2003
25
Congenital afibrinogenaemia in a newborn infant due to a novel mutation in the fibrinogen aalpha gene. 6
12358944 2002
26
The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster. 6
10602365 1999
27
The molecular basis of hereditary complement factor I deficiency. 6
8613545 1996
28
Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen. 57
7740487 1995
29
Congenital afibrinogenaemia in a Saudi family: a case report and family study. 57
6433620 1984
30
A second case of human C3b inhibitor (KAF) deficiency. 6
849647 1977
31
[Congenital afibrinemia in 2 brothers with bone and hepatic lesions]. 57
13929572 1963
32
[Congenital afibrinogenaemia. I]. 57
13968664 1963
33
Clinical audit of inherited bleeding disorders in a developing country. 61 54
20090222 2010
34
A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream. 54 61
19417632 2009
35
Recurrence of the 'deep-intronic' FGG IVS6-320A>T mutation causing quantitative fibrinogen deficiency in the Italian population of Veneto. 61 54
19551918 2009
36
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. 54 61
18853456 2009
37
Menorrhagia and reproductive health in rare bleeding disorders: a study from the Indian subcontinent. 61 54
18803553 2009
38
Congenital hypofibrinogenemia: characterization of two missense mutations affecting fibrinogen assembly and secretion. 61 54
18676163 2008
39
Inherited bleeding disorders: a 14-year retrospective study. 54 61
19174980 2008
40
Molecular characterization of the first missense mutation in the fibrinogen Aalpha-chain gene identified in a compound heterozygous afibrinogenemic patient. 61 54
17531448 2007
41
Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations. 61 54
17295221 2007
42
Mutational screening of six afibrinogenemic patients: identification and characterization of four novel molecular defects. 54 61
17393016 2007
43
Rare bleeding disorders. 61 54
16684009 2006
44
Solvent/detergent plasma for prevention of bleeding in recessively inherited coagulation disorders: dosing, pharmacokinetics and clinical efficacy. 61 54
16670069 2006
45
[Inherited afibrinogenemia caused by compound heterozygous mutations in the beta beta-chain of fibrinogen]. 61 54
16403286 2005
46
[Congenital afibrinogenemia associated with a novel nonsense mutation in the FGA gene]. 54 61
15946522 2005
47
Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells. 61 54
15284111 2004
48
Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion. 54 61
12893758 2003
49
Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family. 54 61
12511408 2003
50
Outcome of donor splice site mutations accounting for congenital afibrinogenemia reflects order of intron removal in the fibrinogen alpha gene (FGA). 54 61
12406899 2003

Variations for Afibrinogenemia, Congenital

ClinVar genetic disease variations for Afibrinogenemia, Congenital:

6 (show top 50) (show all 185)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FGB NM_005141.4(FGB):c.1148T>G (p.Leu383Arg) SNV Pathogenic 16389 rs121909621 4:155490855-155490855 4:154569703-154569703
2 FGB NM_005141.4(FGB):c.1289G>A (p.Gly430Asp) SNV Pathogenic 16390 rs121909622 4:155491615-155491615 4:154570463-154570463
3 FGB NM_005141.4(FGB):c.958+13C>T SNV Pathogenic 16392 rs606231223 4:155490472-155490472 4:154569320-154569320
4 FGB NM_005141.4(FGB):c.1244+1G>T SNV Pathogenic 16393 rs606231224 4:155490952-155490952 4:154569800-154569800
5 FGB NM_005141.4(FGB):c.605T>A (p.Leu202Gln) SNV Pathogenic 16395 rs121909624 4:155488859-155488859 4:154567707-154567707
6 FGB NM_005141.4(FGB):c.139C>T (p.Arg47Ter) SNV Pathogenic 16396 rs121909625 4:155486984-155486984 4:154565832-154565832
7 FGA NC_000004.12:g.(154580323_154580329)_(154590210_154590216)del Deletion Pathogenic 16414 4:154580323-154590216
8 FGA NM_021871.4(FGA):c.510+1G>T SNV Pathogenic 16415 rs146387238 4:155508663-155508663 4:154587511-154587511
9 FGA NM_021871.4(FGA):c.510+1G>T SNV Pathogenic 16415 rs146387238 4:155508663-155508663 4:154587511-154587511
10 CFI NM_000204.4(CFI):c.1253A>T (p.His418Leu) SNV Pathogenic 12118 rs121964912 4:110667554-110667554 4:109746398-109746398
11 CFI CFI, IVS5DS G-A, -1 SNV Pathogenic 12119
12 CFI CFI, 2-BP INS, 1205AT Insertion Pathogenic 12120
13 CFI NM_000204.4(CFI):c.728G>A (p.Gly243Asp) SNV Pathogenic 12124 rs121964916 4:110681723-110681723 4:109760567-109760567
14 CFI NM_000204.4(CFI):c.162C>G (p.Cys54Trp) SNV Pathogenic 560185 rs1553915717 4:110687876-110687876 4:109766720-109766720
15 FGA NM_021871.4(FGA):c.510+1G>T SNV Pathogenic 16415 rs146387238 4:155508663-155508663 4:154587511-154587511
16 FGA NM_021871.4(FGA):c.502C>T (p.Arg168Ter) SNV Pathogenic 402230 rs755117226 4:155508672-155508672 4:154587520-154587520
17 FGA NM_021871.4(FGA):c.945del (p.Gly316fs) Deletion Pathogenic 627159 rs1214070111 4:155507636-155507636 4:154586484-154586484
18 FGA NM_021871.4(FGA):c.103C>A (p.Arg35Ser) SNV Pathogenic 627196 rs121909606 4:155510666-155510666 4:154589514-154589514
19 FGA NM_021871.4(FGA):c.104G>C (p.Arg35Pro) SNV Pathogenic 627199 rs121909607 4:155510665-155510665 4:154589513-154589513
20 FGB NM_005141.4(FGB):c.974G>C (p.Gly325Ala) SNV Pathogenic 800647 rs1578785111 4:155490681-155490681 4:154569529-154569529
21 FGA NM_021871.4(FGA):c.811C>T (p.Arg271Ter) SNV Pathogenic 800649 rs1578796476 4:155507770-155507770 4:154586618-154586618
22 FGA NM_021871.4(FGA):c.711dup (p.Lys238Ter) Duplication Pathogenic 16417 rs606231225 4:155507869-155507870 4:154586717-154586718
23 FGG NM_021870.3(FGG):c.78+5G>A SNV Pathogenic 16376 rs587776837 4:155533679-155533679 4:154612527-154612527
24 FGG NM_021870.3(FGG):c.307+5G>A SNV Pathogenic 16377 rs587776838 4:155533165-155533165 4:154612013-154612013
25 FGG NM_021870.3(FGG):c.667-320A>T SNV Pathogenic 16380 rs587776839 4:155530122-155530122 4:154608970-154608970
26 FGG NM_021870.3(FGG):c.666+23T>A SNV Pathogenic 800570 rs1578810856 4:155530759-155530759 4:154609607-154609607
27 FGA NM_021871.4(FGA):c.104G>A (p.Arg35His) SNV Pathogenic 16404 rs121909607 4:155510665-155510665 4:154589513-154589513
28 FGG NM_021870.3(FGG):c.1022G>A (p.Trp341Ter) SNV Pathogenic 504885 rs1553965519 4:155527964-155527964 4:154606812-154606812
29 FGG NM_021870.2(FGG):c.901C>T (p.Arg301Cys) SNV Pathogenic 16361 rs121913087 4:155528085-155528085 4:154606933-154606933
30 FGG NM_021870.2(FGG):c.902G>A (p.Arg301His) SNV Pathogenic 16362 rs121913088 4:155528084-155528084 4:154606932-154606932
31 FGA NM_000508.3(FGA):c.112A>G (p.Arg38Gly) SNV Likely pathogenic 16402 rs121909608 4:155510657-155510657 4:154589505-154589505
32 FGG NM_021870.3(FGG):c.78+5G>A SNV Likely pathogenic 16376 rs587776837 4:155533679-155533679 4:154612527-154612527
33 FGG NM_021870.3(FGG):c.677G>T (p.Gly226Val) SNV Likely pathogenic 626936 rs1310452604 4:155529792-155529792 4:154608640-154608640
34 FGG NM_021870.3(FGG):c.1099G>A (p.Ala367Thr) SNV Likely pathogenic 626970 rs78257946 4:155527887-155527887 4:154606735-154606735
35 FGG NM_021870.3(FGG):c.963del (p.Phe321fs) Deletion Likely pathogenic 627163 rs1414035000 4:155528023-155528023 4:154606871-154606871
36 FGB NM_005141.4(FGB):c.130C>T (p.Arg44Cys) SNV Likely pathogenic 16382 rs121909616 4:155486975-155486975 4:154565823-154565823
37 FGA NM_021871.4(FGA):c.117del (p.Val40fs) Deletion Likely pathogenic 627216 rs762964798 4:155510652-155510652 4:154589500-154589500
38 FGA NM_021871.4(FGA):c.1472G>A (p.Cys491Tyr) SNV Likely pathogenic 627244 rs1578795296 4:155507109-155507109 4:154585957-154585957
39 FGA NM_021871.4(FGA):c.922C>T (p.Arg308Ter) SNV Likely pathogenic 627406 rs776817952 4:155507659-155507659 4:154586507-154586507
40 FGB NM_005141.4(FGB):c.139C>T (p.Arg47Ter) SNV Likely pathogenic 16396 rs121909625 4:155486984-155486984 4:154565832-154565832
41 FGB NM_005141.5(FGB):c.794C>T (p.Pro265Leu) SNV Conflicting interpretations of pathogenicity 517313 rs6054 4:155489608-155489608 4:154568456-154568456
42 FGG NM_021870.3(FGG):c.323C>G (p.Ala108Gly) SNV Conflicting interpretations of pathogenicity 547969 rs148685782 4:155533035-155533035 4:154611883-154611883
43 FGB NM_005141.5(FGB):c.794C>T (p.Pro265Leu) SNV Uncertain significance 517313 rs6054 4:155489608-155489608 4:154568456-154568456
44 FGG NM_021870.3(FGG):c.*500C>T SNV Uncertain significance 902204 4:155525486-155525486 4:154604334-154604334
45 FGG NM_021870.3(FGG):c.*496A>C SNV Uncertain significance 902205 4:155525490-155525490 4:154604338-154604338
46 FGG NM_021870.3(FGG):c.*494A>G SNV Uncertain significance 902206 4:155525492-155525492 4:154604340-154604340
47 FGG NM_021870.3(FGG):c.1258A>G (p.Ile420Val) SNV Uncertain significance 903087 4:155526090-155526090 4:154604938-154604938
48 FGG NM_021870.3(FGG):c.1125C>T (p.Tyr375=) SNV Uncertain significance 903088 4:155527861-155527861 4:154606709-154606709
49 FGB NM_005141.4(FGB):c.*1544T>C SNV Uncertain significance 347798 rs886059147 4:155493346-155493346 4:154572194-154572194
50 CFI NM_000204.4(CFI):c.1532C>T (p.Ala511Val) SNV Uncertain significance 625917 rs760801046 4:110663649-110663649 4:109742493-109742493

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

73 (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

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 KEGG:

36
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

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

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.05 VWF SERPINF2 SERPINE1 SERPINC1 PLAT FGG
2
Show member pathways
12.64 SERPINC1 FGG FGB FGA F8 F3
3
Show member pathways
12.14 VWF FGG FGB FGA
4
Show member pathways
12.05 CR1 CFP CFI CD46 C3
5
Show member pathways
12.02 VWF FGG FGB FGA
6
Show member pathways
11.97 CR1 CFI CD46 C3
7
Show member pathways
11.97 VWF SERPINF2 SERPINE1 SERPINC1 PLAT FGG
8
Show member pathways
11.93 VWF FGG FGB FGA
9 11.9 VWF FGG FGB FGA F2
10
Show member pathways
11.76 VWF FGG FGB FGA F2
11 11.74 VWF SERPINF2 SERPINE1 SERPINC1 PLAT FGG
12 11.71 FGG CFI C3
13 11.43 VWF FGG FGB FGA F2
14 11.42 PLAT FGG FGB FGA
15 10.77 SERPINF2 SERPINE1 PLAT
16 10.73 F2 F10

GO Terms for Afibrinogenemia, Congenital

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.32 SERPINE1 SERPINC1 FGG FGB FGA F8
2 extracellular exosome GO:0070062 10.21 VWF SERPINF2 SERPINE1 SERPINC1 PLAT FGG
3 cell surface GO:0009986 10.11 SERPINF2 PLAT FGG FGB FGA F3
4 extracellular region GO:0005576 10.09 VWF SERPINF2 SERPINE1 SERPINC1 PLAT FGG
5 endoplasmic reticulum lumen GO:0005788 10.01 SERPINC1 FGG FGA F8 F2 F10
6 blood microparticle GO:0072562 9.87 SERPINF2 SERPINC1 FGG FGB FGA F2
7 extracellular space GO:0005615 9.86 VWF SERPINF2 SERPINE1 SERPINC1 PLAT FGG
8 platelet alpha granule lumen GO:0031093 9.8 VWF SERPINF2 SERPINE1 FGG FGB FGA
9 platelet alpha granule GO:0031091 9.78 VWF FGG FGB FGA
10 fibrinogen complex GO:0005577 9.73 SERPINF2 FGG FGB FGA
11 intrinsic component of external side of plasma membrane GO:0031233 9.49 F3 F10
12 collagen-containing extracellular matrix GO:0062023 9.36 VWF SERPINF2 SERPINE1 SERPINC1 PLAT FGG

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

(show all 42)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 10.16 FGB FGA CR1 CFP CFI CD46
2 innate immune response GO:0045087 10.1 FGB FGA CR1 CFP CFI CD46
3 extracellular matrix organization GO:0030198 10.01 VWF SERPINE1 FGG FGB FGA
4 cellular protein metabolic process GO:0044267 9.98 SERPINC1 FGG FGA F2 C3
5 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.97 SERPINF2 FGG FGB FGA
6 complement activation, classical pathway GO:0006958 9.96 CR1 CFI CD46 C3
7 negative regulation of endopeptidase activity GO:0010951 9.94 SERPINF2 SERPINE1 SERPINC1 C3
8 platelet degranulation GO:0002576 9.91 VWF SERPINF2 SERPINE1 FGG FGB FGA
9 platelet activation GO:0030168 9.88 VWF FGG FGB FGA F8 F2
10 regulation of complement activation GO:0030449 9.87 F2 CR1 CFP CFI CFHR2 CD46
11 cell-matrix adhesion GO:0007160 9.86 FGG FGB FGA
12 response to calcium ion GO:0051592 9.85 FGG FGB FGA
13 positive regulation of protein secretion GO:0050714 9.83 FGG FGB FGA
14 toll-like receptor signaling pathway GO:0002224 9.83 FGG FGB FGA
15 platelet aggregation GO:0070527 9.82 FGG FGB FGA
16 positive regulation of substrate adhesion-dependent cell spreading GO:1900026 9.81 FGG FGB FGA
17 acute-phase response GO:0006953 9.8 SERPINF2 F8 F2
18 positive regulation of vasoconstriction GO:0045907 9.8 FGG FGB FGA
19 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.8 SERPINE1 FGG FGB FGA
20 negative regulation of endothelial cell apoptotic process GO:2000352 9.78 SERPINE1 FGG FGB FGA
21 positive regulation of exocytosis GO:0045921 9.77 FGG FGB FGA
22 cellular protein-containing complex assembly GO:0034622 9.77 FGG FGB FGA
23 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.75 FGG FGB FGA
24 complement activation, alternative pathway GO:0006957 9.74 CR1 CFP C3
25 blood coagulation, intrinsic pathway GO:0007597 9.73 VWF F8 F2 F11
26 protein polymerization GO:0051258 9.72 FGG FGB FGA
27 regulation of blood coagulation GO:0030193 9.71 SERPINC1 F2 F11
28 negative regulation of fibrinolysis GO:0051918 9.7 SERPINF2 SERPINE1 F2
29 fibrinolysis GO:0042730 9.7 SERPINF2 SERPINE1 PLAT FGG FGB FGA
30 positive regulation of blood coagulation GO:0030194 9.69 SERPINE1 F2
31 positive regulation of peptide hormone secretion GO:0090277 9.69 FGG FGB FGA
32 positive regulation of regulatory T cell differentiation GO:0045591 9.68 CR1 CD46
33 positive regulation of transforming growth factor beta production GO:0071636 9.68 SERPINF2 CD46
34 cytolysis by host of symbiont cells GO:0051838 9.68 F2 CFHR2
35 induction of bacterial agglutination GO:0043152 9.67 FGB FGA
36 negative regulation of plasminogen activation GO:0010757 9.66 SERPINF2 SERPINE1
37 plasminogen activation GO:0031639 9.65 PLAT FGG FGB FGA F11
38 hemostasis GO:0007599 9.65 VWF SERPINC1 FGG FGB FGA F8
39 blood coagulation, extrinsic pathway GO:0007598 9.63 F3 F10
40 blood coagulation, fibrin clot formation GO:0072378 9.63 FGG FGB FGA
41 positive regulation of activation of membrane attack complex GO:0001970 9.61 CR1 C3
42 blood coagulation GO:0007596 9.36 VWF SERPINC1 PLAT FGG FGB FGA

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.41 VWF SERPINF2 SERPINE1 SERPINC1 PLAT FGG
2 peptidase activity GO:0008233 9.8 PLAT F2 F11 F10 CFI
3 serine-type peptidase activity GO:0008236 9.65 PLAT F2 F11 F10 CFI
4 serine-type endopeptidase inhibitor activity GO:0004867 9.63 SERPINF2 SERPINE1 SERPINC1
5 extracellular matrix structural constituent GO:0005201 9.62 VWF FGG FGB FGA
6 protease binding GO:0002020 9.55 VWF SERPINF2 SERPINE1 SERPINC1 F3
7 cell adhesion molecule binding GO:0050839 9.54 FGG FGB FGA
8 signaling receptor binding GO:0005102 9.5 SERPINE1 PLAT FGG FGB FGA F2
9 serine-type endopeptidase activity GO:0004252 9.1 PLAT F3 F2 F11 F10 CFI

Sources for Afibrinogenemia, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....