MCID: AFB001
MIFTS: 49

Afibrinogenemia

Categories: Rare diseases, Genetic diseases, Blood diseases

Aliases & Classifications for Afibrinogenemia

MalaCards integrated aliases for Afibrinogenemia:

Name: Afibrinogenemia 53 37 29 55 6 73
Congenital Hypofibrinogenemia 73
Congenital Afibrinogenemia 53
Afibrinogenemia Congenital 53

Classifications:



External Ids:

KEGG 37 H00222
UMLS 73 C2584774

Summaries for Afibrinogenemia

NIH Rare Diseases : 53 Afibrinogenemia, sometimes called congenital afibrinogenemia, is an inheritedblood 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 recessivetrait. Treatment may include cryoprecipitate (a blood product containing concentrated fibrinogen and other clotting factors), fibrinogen (RiaSTAP) or plasma (the liquid portion of the blood which contains clotting factors). 

MalaCards based summary : Afibrinogenemia, also known as congenital hypofibrinogenemia, is related to dysfibrinogenemia, congenital and spinal cord infarction. An important gene associated with Afibrinogenemia is CFI (Complement Factor I), and among its related pathways/superpathways are Complement and coagulation cascades and Response to elevated platelet cytosolic Ca2+. The drugs Hemostatics and Complement Factor I have been mentioned in the context of this disorder. Affiliated tissues include placenta, heart and liver, and related phenotypes are cardiovascular system and homeostasis/metabolism

Related Diseases for Afibrinogenemia

Diseases in the Afibrinogenemia family:

Afibrinogenemia, Congenital

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

(show top 50) (show all 145)
# Related Disease Score Top Affiliating Genes
1 dysfibrinogenemia, congenital 32.4 FGA FGB FGG
2 spinal cord infarction 29.9 F2 F5
3 afibrinogenemia, congenital 29.7 C3 CFI CR1 F11 F2 F3
4 purpura 29.3 F2 F3 VWF
5 thrombotic thrombocytopenic purpura 29.1 CD46 F3 VWF
6 hemophilia 28.8 F2 F3 F8 VWF
7 dysfibrinogenemia 28.6 F2 F5 FGA FGB FGG
8 pulmonary embolism 27.7 F10 F2 F3 F5
9 thrombosis 27.5 F10 F2 F3 F5 VWF
10 von willebrand's disease 27.1 F11 F2 F3 F5 F8 VWF
11 thrombophilia due to thrombin defect 26.5 F10 F2 F3 F5 F8 VWF
12 myocardial infarction 24.9 F10 F11 F2 F3 F5 F8
13 hypofibrinogenemia, familial 10.9
14 c3 glomerulopathy 10.7 C3 CFP
15 chronic monocytic leukemia 10.6 C3 F2
16 complement factor h deficiency 10.6 CD46 CFI
17 chronic thromboembolic pulmonary hypertension 10.6 F2 FGA FGB
18 thyroid crisis 10.5 CR1 F8
19 vitamin k deficiency hemorrhagic disease 10.5 F2 F8
20 complement component 3 deficiency 10.5 C3 CFI CFP
21 fainting 10.4 F8 VWF
22 variola minor 10.4 CD46 CR1
23 cerebral falx meningioma 10.4 F2 F3
24 von willebrand disease, type 2 10.4 F8 VWF
25 von willebrand disease, type 3 10.4 F8 VWF
26 cerebral arteritis 10.4 F8 VWF
27 intestinal impaction 10.4 F2 F3
28 giant hemangioma 10.3 F2 F3
29 active peptic ulcer disease 10.3 F2 VWF
30 cardiac tamponade 10.3 F2 F8
31 enterocolitis 10.3 C3 CD46 CFI
32 ascending cholangitis 10.3 C3 F2
33 blue toe syndrome 10.3 F2 F3
34 intracranial embolism 10.3 F2 F3
35 femoral neuropathy 10.3 F2 F3
36 dysbaric osteonecrosis 10.3 C3 F3
37 hantavirus pulmonary syndrome 10.3 F2 F3
38 anterior cranial fossa meningioma 10.3 F2 F3
39 neisseria meningitidis infection 10.2 C3 CD46 CFP
40 membranoproliferative glomerulonephritis 10.2 C3 CD46 CFP
41 lemierre's syndrome 10.2 C3 F11 F3
42 acquired von willebrand syndrome 10.2 F11 F8 VWF
43 splenic disease 10.2 F2 F3
44 marantic endocarditis 10.1 F2 F3
45 acquired angioedema 10.1 C3 F5
46 factor xi deficiency 10.1 F11 F2 F3
47 purpura fulminans 10.1 F2 F3
48 heparin-induced thrombocytopenia 10.1 F10 F3
49 fournier gangrene 10.1 F2 F3 F8
50 paracetamol poisoning 10.1 F2 F5

Graphical network of the top 20 diseases related to Afibrinogenemia:



Diseases related to Afibrinogenemia

Symptoms & Phenotypes for Afibrinogenemia

MGI Mouse Phenotypes related to Afibrinogenemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.22 F10 FGA F11 F2 FGB C3
2 homeostasis/metabolism MP:0005376 10.1 F10 FGA F11 F2 C3 F3
3 hematopoietic system MP:0005397 10.02 F8 F11 FGA F2 C3 F3
4 mortality/aging MP:0010768 9.93 F10 FGA F11 F2 C3 F3
5 immune system MP:0005387 9.91 F8 F11 FGA F2 C3 F3
6 nervous system MP:0003631 9.61 F11 FGA F2 C3 CD46 F3
7 reproductive system MP:0005389 9.23 F8 F10 FGA F2 C3 CD46

Drugs & Therapeutics for Afibrinogenemia

Drugs for Afibrinogenemia (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

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


Genetic Tests for Afibrinogenemia

Genetic tests related to Afibrinogenemia:

# Genetic test Affiliating Genes
1 Afibrinogenemia 29 CFI

Anatomical Context for Afibrinogenemia

MalaCards organs/tissues related to Afibrinogenemia:

41
Placenta, Heart, Liver, Prostate, Spinal Cord, Bone, Uterus

Publications for Afibrinogenemia

Articles related to Afibrinogenemia:

(show top 50) (show all 252)
# Title Authors Year
1
Administering RiaSTAP for Congenital Afibrinogenemia During Liver Transplant. ( 29766777 )
2018
2
Successful delivery in an patient with afibrinogenemia after three abortions: A case report and review of the literature. ( 29388741 )
2018
3
The Novel Protease-Activated Receptor 1 Antagonist Vorapaxar as a Treatment for Thrombosis in Afibrinogenemia. ( 29763961 )
2018
4
Combined life-threatening thromboses and hemorrhages in a patient with afibrinogenemia and antithrombin deficiency. ( 29636644 )
2018
5
Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population. ( 28912669 )
2017
6
Afibrinogenemia Acquired by Liver Transplant. ( 28952920 )
2017
7
A novel missense mutation in the FGB gene (p.Gly302Arg) leading to afibrinogenemia. Predicted structure and function consequences. ( 27824214 )
2016
8
Congenital afibrinogenemia: a case report of a spontaneous hepatic hematoma. ( 27428204 )
2016
9
[Congenital afibrinogenemia: about a case]. ( 28293349 )
2016
10
Severe Thrombotic Complications in Congenital Afibrinogenemia: A Pathophysiological and Management Dilemma. ( 27253088 )
2016
11
Perioperative Coagulation Management in a Patient with Congenital Afibrinogenemia during Revision Total Hip Arthroplasty. ( 27472424 )
2016
12
A Rare Complication Of Congenital Afibrinogenemia: Bone Cysts. ( 27094883 )
2016
13
Post-authorization safety study of Clottafact(Ar) , a triply secured fibrinogen concentrate in congenital afibrinogenemia. A prospective observational study. ( 27583698 )
2016
14
Congenital afibrinogenemia: from etiopathogenesis to challenging clinical management. ( 27291795 )
2016
15
Fibrinogen Martin: A Novel Mutation in FGB (Gln180Stop) Causing Congenital Afibrinogenemia. ( 27148845 )
2016
16
Congenital afibrinogenemia: Identification and characterization of two novel homozygous fibrinogen AI+ and BI^ chain mutations in two Tunisian families. ( 27164460 )
2016
17
Paradoxical bleeding and thrombosis in a patient with afibrinogenemia and fibrinogen mumbai mutation. ( 25873512 )
2015
18
[Congenital hypofibrinogenemia associated with a novel mutation in FGG gene]. ( 26037343 )
2015
19
Umbilical bleeding: a presenting feature for congenital afibrinogenemia. ( 26407137 )
2015
20
Thrombosis of abdominal aorta in congenital afibrinogenemia: case report and review of literature. ( 25421938 )
2015
21
Resolution of fibrinogen deficiency in a patient with congenital afibrinogenemia after liver transplantation. ( 26421965 )
2015
22
Yes or no for secondary prophylaxis in afibrinogenemia? ( 26484644 )
2015
23
Massive hemoperitoneum due to a ruptured corpus luteum cyst in a patient with congenital hypofibrinogenemia. ( 26430672 )
2015
24
Venous thrombosis in afibrinogenemia: a successful use of rivaroxaban. ( 26036982 )
2015
25
Congenital hypofibrinogenemia associated with novel homozygous fibrinogen AI+ and heterozygous BI^ chain mutations. ( 25981141 )
2015
26
Novel Fibrinogen Bbeta Chain Mutation as an Underlying Mechanism of Afibrinogenemia? ( 26485721 )
2015
27
Targeted mutation of zebrafish fga models human congenital afibrinogenemia. ( 24553182 )
2014
28
Recurrent myocardial infarction in a case of congenital afibrinogenemia. ( 24949183 )
2014
29
Recurrent massive haemoperitoneum associated with ruptured corpus luteum in women with congenital afibrinogenemia; case report. ( 28913028 )
2014
30
Congenital afibrinogenemia in a new born: a rare cause for bleeding. ( 24509333 )
2014
31
Spontaneous epidural and subdural hematoma in a child with afibrinogenemia and postoperative management. ( 24509337 )
2014
32
Novel mutations (I^Trp208Leu and I^Lys232Thr) leading to congenital hypofibrinogenemia in two unrelated Chinese families. ( 24914742 )
2014
33
Spontaneous splenic rupture in a patient with congenital afibrinogenemia. ( 26078670 )
2014
34
A case of congenital afibrinogenemia complicated with thromboembolic events that required repeated amputations. ( 25255238 )
2014
35
Novel homozygous fibrinogen AI+ chain truncation causes severe afibrinogenemia with life threatening complications in a two-year-old boy. ( 24050829 )
2013
36
Percutaneous coronary intervention in a case of afibrinogenemia. ( 24570509 )
2013
37
Treatment of afibrinogenemia in a chihuahua. ( 23148136 )
2013
38
Pulmonary embolism in a patient with congenital afibrinogenemia. ( 23855372 )
2013
39
Diagnosis and non-surgical periodontal management in congenital afibrinogenemia: report of a rare case. ( 22323341 )
2012
40
Successful ABO-incompatible kidney transplantation in patient with congenital afibrinogenemia. ( 22624802 )
2012
41
Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia. ( 22732251 )
2012
42
Anaesthetic management of a child with congenital afibrinogenemia - A rare inherited coagulation disorder. ( 22223906 )
2011
43
Chronic subdural hematoma in a patient with congenital afibrinogenemia successfully treated with fibrinogen replacement. ( 22123482 )
2011
44
Recurrent massive hemoperitoneum due to ovulation as a clinical sign in congenital afibrinogenemia. ( 21241266 )
2011
45
Cellulitis on face in a patient with congenital afibrinogenemia. ( 21521918 )
2011
46
A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family. ( 21245743 )
2011
47
Successive bleeding and thrombotic complications in a patient with afibrinogenemia: a case report. ( 21496887 )
2011
48
Thrombotic and hemorrhagic presentation of congenital hypo/afibrinogenemia. ( 20870369 )
2011
49
Identification and functional characterization of a novel nonsense mutation in FGA accounting for congenital afibrinogenemia in six Egyptian patients. ( 20051841 )
2010
50
Congenital Afibrinogenemia presenting as antenatal intracranial bleed: a case report. ( 20180944 )
2010

Variations for Afibrinogenemia

ClinVar genetic disease variations for Afibrinogenemia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CFI NM_000204.4(CFI): c.728G> A (p.Gly243Asp) single nucleotide variant Pathogenic rs121964916 GRCh37 Chromosome 4, 110681723: 110681723
2 CFI NM_000204.4(CFI): c.728G> A (p.Gly243Asp) single nucleotide variant Pathogenic rs121964916 GRCh38 Chromosome 4, 109760567: 109760567
3 CFI NM_000204.4(CFI): c.1253A> T (p.His418Leu) single nucleotide variant Pathogenic rs121964912 GRCh37 Chromosome 4, 110667554: 110667554
4 CFI NM_000204.4(CFI): c.1253A> T (p.His418Leu) single nucleotide variant Pathogenic rs121964912 GRCh38 Chromosome 4, 109746398: 109746398
5 CFI CFI, IVS5DS G-A, -1 single nucleotide variant Pathogenic
6 CFI CFI, 2-BP INS, 1205AT insertion Pathogenic
7 CFI NM_000204.4(CFI): c.80_81delAT (p.Asp27Alafs) deletion Pathogenic rs886043418 GRCh37 Chromosome 4, 110687957: 110687958
8 CFI NM_000204.4(CFI): c.80_81delAT (p.Asp27Alafs) deletion Pathogenic rs886043418 GRCh38 Chromosome 4, 109766801: 109766802

Expression for Afibrinogenemia

Search GEO for disease gene expression data for Afibrinogenemia.

Pathways for Afibrinogenemia

Pathways related to Afibrinogenemia according to KEGG:

37
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

Pathways related to Afibrinogenemia according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.1 F10 F11 F2 F3 F5 F8
2
Show member pathways
12.53 F10 F11 F2 F3 F5 F8
3
Show member pathways
12.15 FGA FGB FGG VWF
4
Show member pathways
11.99 FGA FGB FGG VWF
5
Show member pathways
11.96 C3 CD46 CFI CR1
6 11.94 C3 CD46 CFI CR1 F10 F11
7
Show member pathways
11.93 C3 CD46 CFI CFP CR1
8
Show member pathways
11.91 FGA FGB FGG VWF
9 11.85 FGA FGB FGG VWF
10
Show member pathways
11.76 C3 CD46 CFP CR1
11
Show member pathways
11.76 F2 FGA FGB FGG VWF
12
Show member pathways
11.52 F10 F11 F2 F3 F5 F8
13 11.46 C3 CFI FGG
14 11.39 FGA FGB FGG
15 11.36 F2 FGA FGB FGG VWF
16 10.73 F10 F2

GO Terms for Afibrinogenemia

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.93 CD46 CR1 F3 FGA FGB FGG
2 external side of plasma membrane GO:0009897 9.83 F2 FGA FGB FGG
3 blood microparticle GO:0072562 9.83 C3 F2 FGA FGB FGG
4 endoplasmic reticulum lumen GO:0005788 9.76 C3 CFP F10 F2 F5 F8
5 extracellular vesicle GO:1903561 9.69 F5 FGA FGB
6 fibrinogen complex GO:0005577 9.58 FGA FGB FGG
7 intrinsic component of external side of plasma membrane GO:0031233 9.48 F10 F3
8 platelet alpha granule lumen GO:0031093 9.43 F5 F8 FGA FGB FGG VWF
9 platelet alpha granule GO:0031091 9.02 F5 FGA FGB FGG VWF
10 plasma membrane GO:0005886 10.27 C3 CD46 CR1 F10 F11 F2
11 extracellular exosome GO:0070062 10.15 C3 CD46 CFI CR1 F11 F2
12 extracellular region GO:0005576 10.07 C3 CFI CFP F10 F11 F2
13 extracellular space GO:0005615 10.06 C3 CFI CFP F11 F2 F3

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

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.97 C3 F5 FGA FGG
2 extracellular matrix organization GO:0030198 9.93 FGA FGB FGG VWF
3 ER to Golgi vesicle-mediated transport GO:0006888 9.93 F10 F2 F5 F8
4 cellular protein metabolic process GO:0044267 9.93 C3 F2 F5 FGA FGG
5 complement activation, classical pathway GO:0006958 9.9 C3 CD46 CFI CR1
6 platelet degranulation GO:0002576 9.85 F5 F8 FGA FGB FGG VWF
7 cell-matrix adhesion GO:0007160 9.83 FGA FGB FGG
8 response to calcium ion GO:0051592 9.81 FGA FGB FGG
9 platelet activation GO:0030168 9.8 F2 F8 FGA FGB FGG VWF
10 toll-like receptor signaling pathway GO:0002224 9.79 FGA FGB FGG
11 platelet aggregation GO:0070527 9.79 FGA FGB FGG
12 positive regulation of protein secretion GO:0050714 9.78 FGA FGB FGG
13 negative regulation of endothelial cell apoptotic process GO:2000352 9.77 FGA FGB FGG
14 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.76 FGA FGB FGG
15 positive regulation of vasoconstriction GO:0045907 9.75 FGA FGB FGG
16 positive regulation of substrate adhesion-dependent cell spreading GO:1900026 9.74 FGA FGB FGG
17 positive regulation of exocytosis GO:0045921 9.73 FGA FGB FGG
18 fibrinolysis GO:0042730 9.73 F2 FGA FGB FGG
19 regulation of complement activation GO:0030449 9.73 C3 CD46 CFI CFP CR1 F2
20 cellular protein-containing complex assembly GO:0034622 9.72 FGA FGB FGG
21 plasminogen activation GO:0031639 9.71 F11 FGA FGB FGG
22 protein polymerization GO:0051258 9.7 FGA FGB FGG
23 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.69 FGA FGB FGG
24 signal peptide processing GO:0006465 9.67 F10 F2
25 positive regulation of peptide hormone secretion GO:0090277 9.67 FGA FGB FGG
26 complement activation, alternative pathway GO:0006957 9.66 C3 CFP
27 regulation of blood coagulation GO:0030193 9.66 F11 F2
28 peptidyl-glutamic acid carboxylation GO:0017187 9.65 F10 F2
29 blood coagulation GO:0007596 9.65 F10 F11 F2 F3 F5 F8
30 induction of bacterial agglutination GO:0043152 9.64 FGA FGB
31 blood coagulation, fibrin clot formation GO:0072378 9.63 FGA FGB FGG
32 blood coagulation, extrinsic pathway GO:0007598 9.62 F10 F3
33 blood coagulation, intrinsic pathway GO:0007597 9.55 F10 F11 F2 F8 VWF
34 hemostasis GO:0007599 9.32 F10 F11 F2 F3 F5 F8
35 proteolysis GO:0006508 10.07 C3 CFI F10 F11 F2
36 immune system process GO:0002376 10.04 C3 CD46 CR1 FGA FGB
37 innate immune response GO:0045087 10.02 C3 CD46 CFI CFP CR1 FGA

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

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.55 C3 F2 FGA FGB FGG
2 protein binding, bridging GO:0030674 9.54 FGA FGB FGG
3 cell adhesion molecule binding GO:0050839 9.43 FGA FGB FGG
4 serine-type peptidase activity GO:0008236 9.26 CFI F10 F11 F2
5 serine-type endopeptidase activity GO:0004252 9.1 C3 CFI F10 F11 F2 F3
6 protein binding GO:0005515 10.2 C3 CD46 CFI CFP F10 F11

Sources for Afibrinogenemia

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
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