MCID: AFB001
MIFTS: 48

Afibrinogenemia malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Afibrinogenemia

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Aliases & Descriptions for Afibrinogenemia:

Name: Afibrinogenemia 48 27 50 68
Congenital Hypofibrinogenemia 68
 
Congenital Afibrinogenemia 48
Afibrinogenemia Congenital 48

Classifications:



Summaries for Afibrinogenemia

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NIH Rare Diseases:48 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 (riastap) or plasma (the liquid portion of the blood which contains clotting factors).  last updated: 5/30/2016

MalaCards based summary: Afibrinogenemia, also known as congenital hypofibrinogenemia, is related to afibrinogenemia, congenital and pericarditis. An important gene associated with Afibrinogenemia is FGB (Fibrinogen Beta Chain), and among its related pathways are Warfarin Pathway, Pharmacodynamics and Staphylococcus aureus infection. Affiliated tissues include placenta, liver and prostate, and related mouse phenotypes are hematopoietic system and immune system.

Related Diseases for Afibrinogenemia

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Diseases in the Afibrinogenemia family:

Afibrinogenemia, Congenital Fga-Related Congenital Afibrinogenemia
Fgb-Related Congenital Afibrinogenemia Fgg-Related Congenital Afibrinogenemia

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

(show top 50)    (show all 160)
idRelated DiseaseScoreTop Affiliating Genes
1afibrinogenemia, congenital34.0FGA, FGB, FGG
2pericarditis28.7F3, F5, PLAT, SERPINC1, VWF
3myocardial infarction27.5F10, F11, F2, F3, F5, F8
4fga-related congenital afibrinogenemia11.7
5fgb-related congenital afibrinogenemia11.7
6fgg-related congenital afibrinogenemia11.7
7dysfibrinogenemia, congenital10.8
8citrulline transport defect10.3F2, FGA, FGB
9vcl-related familial hypertrophic cardiomyopathy10.3F8, VWF
10vcp-related amyotrophic lateral sclerosis/frontotemporal dementia10.3F8, VWF
11hemarthrosis10.3F2, F3
12headache10.2F8, VWF
13prostatic hypertrophy10.2F2, F3, VWF
14immunodeficiency 2110.2F2, FGA, VWF
15arcus senilis10.2C3, F11, F3
16vcl-related dilated cardiomyopathy10.2F8, VWF
17acromegaloid hypertrichosis syndrome10.2F11, F8, VWF
18macular degeneration, age-related, 410.2CD46, CFI
19congenital insensitivity to pain with severe intellectual disability10.2F2, F5
20spinocerebellar ataxia 2710.2F2, F3, F8
21macular degeneration, age-related, 910.2C3, CD46, CFP
22nephropathy familial with hyperuricemia10.1C3, CD46, CFP
23pemphigus10.1CD46, CR1
24bronchiolitis10.1C3, CD46, CFP
25high anorectal malformation10.1F10, F8, VWF
26hendra virus infection10.1F2, F3, F5
27pineal region meningioma10.1F10, F8, VWF
28alpha-2-macroglobulin deficiency10.1F2, F3, F8, VWF
29macular degeneration, age-related, 1310.1C3, CFI, CFP, CR1
30chronic progressive external ophthalmoplegia10.1C3, CD46, CFI, VWF
31pyridoxamine 5'-phosphate oxidase deficiency10.1F2, F3, F8, VWF
32dyskinetic cerebral palsy10.1F11, F2, F3, F8
33acro coxo mesomelic dysplasia10.1C3, F5
34spinal cord lipoma10.1F2, F3, SERPINC1
35midline cystocele10.1F2, F3, SERPINC1
36hereditary alpha tryptasemia syndrome10.1F2, F3, SERPINC1
37central retinal artery occlusion10.1F2, F3, SERPINC1
38capillary hemangioma10.1F2, F3, SERPINC1
39lubinsky syndrome10.1F2, F5
40ischemic optic neuropathy10.1F2, SERPINC1, VWF
41sertoli cell tumor10.1F3, SERPINC1
42hemolytic-uremic syndrome10.0F2, F3, SERPINC1
43thyroid cancer, anaplastic10.0CD46, F3, F8, VWF
44thrombosis10.0
45pleural disease10.0CFP, F8, SERPINF2
46granulomatous hepatitis10.0F2, F3, SERPINC1
47invasive pneumococcal disease, recurrent isolated, 110.0F10, F2, F5
48pdgfra-associated chronic eosinophilic leukemia10.0C3, CFP
49erythrocytosis, familial, 410.0F5, F8
50unverricht-lundborg syndrome10.0FGB, PLAT

Graphical network of the top 20 diseases related to Afibrinogenemia:



Diseases related to afibrinogenemia

Symptoms & Phenotypes for Afibrinogenemia

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MGI Mouse Phenotypes related to Afibrinogenemia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053977.8C3, CFI, F11, F2, F3, F8
2MP:00053877.8C3, CFP, F11, F2, F3, F8
3MP:00036317.4C3, F11, F2, F3, F5, FGA
4MP:00053897.2C3, CD46, F10, F2, F8, FGA
5MP:00107686.4C3, CFP, F10, F11, F2, F3
6MP:00053856.2C3, CD46, CFP, F10, F11, F2
7MP:00053765.9C3, CFI, CFP, F10, F11, F2

Drugs & Therapeutics for Afibrinogenemia

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1HemostaticsPhase 3, Phase 21443
2Complement Factor I35

Interventional clinical trials:

(show all 14)
idNameStatusNCT IDPhase
1Human Fibrinogen Concentrate in Pediatric Cardiac SurgeryRecruitingNCT02822599Phase 4
2Treatment of Coagulopathy Trauma-induced Guided by Thromboelastography in Politrauma Patients.RecruitingNCT02864875Phase 4
3Human Fibrinogen Concentrate (FGTW) in Pediatric Patients With Congenital Fibrinogen DeficiencyCompletedNCT02094430Phase 2, Phase 3
4Haemocomplettan® P During Elective Complex Cardiac SurgeryCompletedNCT01124981Phase 2, Phase 3
5Pharmacokinetic, Efficacy and Safety of BT524 in Patients With Congenital Fibrinogen DeficiencyRecruitingNCT02065882Phase 2, Phase 3
6Study to Assess the Efficacy, Safety and Pharmacokinetic of Octafibrin in Paediatric Subjects With Fibrinogen DeficiencyRecruitingNCT02408484Phase 3
7Efficacy and Safety Study of Octafibrin for On-demand Treatment of Acute Bleeding and to Prevent Bleeding During and After SurgeryRecruitingNCT02267226Phase 3
8FIBrinogen REplenishment in SurgeryRecruitingNCT03037424Phase 3
9Fibrinogen Concentrate (Human) − Efficacy and Safety StudyWithdrawnNCT00916656Phase 3
10Pharmacokinetic, Efficacy, and Safety Study of Octafibrin Compared to Haemocomplettan/RiastapCompletedNCT01575756Phase 2
11Human Fibrinogen - PharmacokineticsCompletedNCT00496262Phase 2
12Pharmacokinetics, Efficacy, and Safety of Human Plasma-Derived Fibrinogen (FIB Grifols) in Patients With Congenital AfibrinogenaemiaRecruitingNCT02281500Phase 1, Phase 2
13RiaSTAP vs. Conventional Transfusion in Patients Having Heart Valve SurgeryTerminatedNCT01283321Phase 2
14An Observational Cohort Study of the Safety and Efficacy of Fibrinogen Concentrate, Human (FCH) in Subjects With Congenital Fibrinogen DeficiencyActive, not recruitingNCT02427217

Search NIH Clinical Center for Afibrinogenemia

Genetic Tests for Afibrinogenemia

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Genetic tests related to Afibrinogenemia:

id Genetic test Affiliating Genes
1 Afibrinogenemia27

Anatomical Context for Afibrinogenemia

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MalaCards organs/tissues related to Afibrinogenemia:

36
Placenta, Liver, Prostate, Spinal cord, Bone, Uterus, Lung

Publications for Afibrinogenemia

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Articles related to Afibrinogenemia:

(show top 50)    (show all 234)
idTitleAuthorsYear
1
Post-authorization safety study of Clottafact(Ar) , a triply secured fibrinogen concentrate in congenital afibrinogenemia. A prospective observational study. (27583698)
2016
2
Fibrinogen Martin: A Novel Mutation in FGB (Gln180Stop) Causing Congenital Afibrinogenemia. (27148845)
2016
3
Congenital afibrinogenemia: from etiopathogenesis to challenging clinical management. (27291795)
2016
4
Severe Thrombotic Complications in Congenital Afibrinogenemia: A Pathophysiological and Management Dilemma. (27253088)
2016
5
A Rare Complication Of Congenital Afibrinogenemia: Bone Cysts. (27094883)
2016
6
Perioperative Coagulation Management in a Patient with Congenital Afibrinogenemia during Revision Total Hip Arthroplasty. (27472424)
2016
7
A novel missense mutation in the FGB gene (p.Gly302Arg) leading to afibrinogenemia. Predicted structure and function consequences. (27824214)
2016
8
Congenital afibrinogenemia: Identification and characterization of two novel homozygous fibrinogen AI+ and BI^ chain mutations in two Tunisian families. (27164460)
2016
9
Congenital afibrinogenemia: a case report of a spontaneous hepatic hematoma. (27428204)
2016
10
Thrombosis of abdominal aorta in congenital afibrinogenemia: case report and review of literature. (25421938)
2015
11
Resolution of fibrinogen deficiency in a patient with congenital afibrinogenemia after liver transplantation. (26421965)
2015
12
Venous thrombosis in afibrinogenemia: a successful use of rivaroxaban. (26036982)
2015
13
Paradoxical bleeding and thrombosis in a patient with afibrinogenemia and fibrinogen mumbai mutation. (25873512)
2015
14
Novel Fibrinogen Bbeta Chain Mutation as an Underlying Mechanism of Afibrinogenemia? (26485721)
2015
15
Yes or no for secondary prophylaxis in afibrinogenemia? (26484644)
2015
16
Umbilical bleeding: a presenting feature for congenital afibrinogenemia. (26407137)
2015
17
Spontaneous splenic rupture in a patient with congenital afibrinogenemia. (26078670)
2014
18
Recurrent myocardial infarction in a case of congenital afibrinogenemia. (24949183)
2014
19
A case of congenital afibrinogenemia complicated with thromboembolic events that required repeated amputations. (25255238)
2014
20
Spontaneous epidural and subdural hematoma in a child with afibrinogenemia and postoperative management. (24509337)
2014
21
Congenital afibrinogenemia in a new born: a rare cause for bleeding. (24509333)
2014
22
Targeted mutation of zebrafish fga models human congenital afibrinogenemia. (24553182)
2014
23
Novel homozygous fibrinogen AI+ chain truncation causes severe afibrinogenemia with life threatening complications in a two-year-old boy. (24050829)
2013
24
Percutaneous coronary intervention in a case of afibrinogenemia. (24570509)
2013
25
Pulmonary embolism in a patient with congenital afibrinogenemia. (23855372)
2013
26
Treatment of afibrinogenemia in a chihuahua. (23148136)
2013
27
Diagnosis and non-surgical periodontal management in congenital afibrinogenemia: report of a rare case. (22323341)
2012
28
Successful ABO-incompatible kidney transplantation in patient with congenital afibrinogenemia. (22624802)
2012
29
Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia. (22732251)
2012
30
Chronic subdural hematoma in a patient with congenital afibrinogenemia successfully treated with fibrinogen replacement. (22123482)
2011
31
Recurrent massive hemoperitoneum due to ovulation as a clinical sign in congenital afibrinogenemia. (21241266)
2011
32
A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family. (21245743)
2011
33
Anaesthetic management of a child with congenital afibrinogenemia - A rare inherited coagulation disorder. (22223906)
2011
34
Thrombotic and hemorrhagic presentation of congenital hypo/afibrinogenemia. (20870369)
2011
35
Successive bleeding and thrombotic complications in a patient with afibrinogenemia: a case report. (21496887)
2011
36
Cellulitis on face in a patient with congenital afibrinogenemia. (21521918)
2011
37
Severe elbow arthropathy in a patient with congenital afibrinogenemia: a case report. (20124074)
2010
38
Is primary prophylaxis required in afibrinogenemia? (20598104)
2010
39
Identification and functional characterization of a novel nonsense mutation in FGA accounting for congenital afibrinogenemia in six Egyptian patients. (20051841)
2010
40
Congenital Afibrinogenemia presenting as antenatal intracranial bleed: a case report. (20180944)
2010
41
Spontaneous intracranial bleeding in a neonate with congenital afibrinogenemia. (20445442)
2010
42
Genetic analysis of an inherited afibrinogenemia family caused by a novel frameshift mutation in FGA]. (19698251)
2009
43
Spinal cord infarction in congenital afibrinogenemia: a case report and review of the literature. (19560685)
2009
44
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. (18853456)
2009
45
A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream. (19417632)
2009
46
Spontaneous extra-axial intracranial hemorrhage followed by thrombosis in congenital afibrinogenemia: perioperative management of this rare combination. (18295846)
2009
47
Severe spontaneous arterial thrombotic manifestations in patients with inherited hypo- and afibrinogenemia. (19335753)
2009
48
Bilateral leukocoria in infant with afibrinogenemia. (19668740)
2008
49
Afibrinogenemia resulting from homozygous nonsense mutation in A alpha chain gene associated with multiple thrombotic episodes. (18388508)
2008
50
Interstitial pregnancy in a woman with congenital afibrinogenemia. (18834350)
2008

Variations for Afibrinogenemia

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Expression for genes affiliated with Afibrinogenemia

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Search GEO for disease gene expression data for Afibrinogenemia.

Pathways for genes affiliated with Afibrinogenemia

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Pathways related to Afibrinogenemia according to GeneCards Suite gene sharing:

(show all 17)
idSuper pathwaysScoreTop Affiliating Genes
19.8F10, F2
29.8C3, CFI, FGG
3
Show member pathways
9.6FGA, FGB, FGG, VWF
4
Show member pathways
9.6FGA, FGB, FGG, VWF
5
Show member pathways
9.6FGA, FGB, FGG, VWF
69.6FGA, FGB, FGG, VWF
7
Show member pathways
9.4C3, CD46, CFI, CR1
8
Show member pathways
9.3C3, CD46, CFP, CR1
9
Show member pathways
9.3F2, FGA, FGB, FGG, VWF
109.3F2, FGA, FGB, FGG, VWF
119.2FGA, FGB, FGG, PLAT
12
Show member pathways
9.1C3, CD46, CFI, CFP, CR1
139.0PLAT, SERPINF2
14
Show member pathways
7.3F10, F11, F2, F3, F5, F8
15
Show member pathways
5.6F10, F11, F2, F3, F5, F8
16
Show member pathways
5.6F10, F11, F2, F3, F5, F8
17
Show member pathways
4.5C3, CD46, CFI, CR1, F10, F11

GO Terms for genes affiliated with Afibrinogenemia

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1intrinsic component of external side of plasma membraneGO:003123310.5F10, F3
2external side of plasma membraneGO:000989710.4F2, FGA, FGB, FGG
3extracellular vesicleGO:190356110.4F5, FGA, FGB
4fibrinogen complexGO:00055779.8FGA, FGB, FGG, SERPINF2
5extracellular matrixGO:00310129.7CFP, F3, PLAT, VWF
6platelet alpha granuleGO:00310919.6F5, FGA, FGB, FGG, VWF
7blood microparticleGO:00725628.8C3, F2, FGA, FGB, FGG, SERPINC1
8endoplasmic reticulum lumenGO:00057888.5C3, CFP, F10, F2, F5, F8
9cell surfaceGO:00099868.2CD46, CR1, F3, FGA, FGB, FGG
10platelet alpha granule lumenGO:00310938.0F5, F8, FGA, FGB, FGG, SERPINF2
11plasma membraneGO:00058866.9C3, CD46, CR1, F10, F11, F2
12extracellular spaceGO:00056156.3C3, CFI, CFP, F11, F2, F3
13extracellular exosomeGO:00700625.8C3, CD46, CFI, CR1, F11, F2
14extracellular regionGO:00055765.7C3, CFI, CFP, F10, F11, F2

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

(show all 40)
idNameGO IDScoreTop Affiliating Genes
1induction of bacterial agglutinationGO:004315210.8FGA, FGB
2complement activation, alternative pathwayGO:000695710.8C3, CFP
3blood coagulation, fibrin clot formationGO:007237810.6FGA, FGB, FGG
4cell-matrix adhesionGO:000716010.6FGA, FGB, FGG
5cellular protein complex assemblyGO:004362310.6FGA, FGB, FGG
6negative regulation of endothelial cell apoptotic processGO:200035210.6FGA, FGB, FGG
7negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:190204210.6FGA, FGB, FGG
8platelet aggregationGO:007052710.6FGA, FGB, FGG
9positive regulation of exocytosisGO:004592110.6FGA, FGB, FGG
10positive regulation of heterotypic cell-cell adhesionGO:003411610.6FGA, FGB, FGG
11positive regulation of peptide hormone secretionGO:009027710.6FGA, FGB, FGG
12positive regulation of protein secretionGO:005071410.6FGA, FGB, FGG
13positive regulation of substrate adhesion-dependent cell spreadingGO:190002610.6FGA, FGB, FGG
14positive regulation of vasoconstrictionGO:004590710.6FGA, FGB, FGG
15protein polymerizationGO:005125810.6FGA, FGB, FGG
16peptidyl-glutamic acid carboxylationGO:001718710.6F10, F2
17blood coagulation, extrinsic pathwayGO:000759810.5F10, F3
18extracellular matrix organizationGO:003019810.3FGA, FGB, FGG, VWF
19response to calcium ionGO:005159210.3FGA, FGB, FGG
20complement activation, classical pathwayGO:000695810.1C3, CD46, CFI, CR1
21negative regulation of fibrinolysisGO:005191810.1F2, SERPINF2
22positive regulation of transforming growth factor beta productionGO:007163610.0CD46, SERPINF2
23regulation of blood coagulationGO:003019310.0F11, F2, SERPINC1
24immune system processGO:00023769.9C3, CD46, CR1, FGA, FGB
25acute-phase responseGO:00069539.9F2, F8, SERPINF2
26toll-like receptor signaling pathwayGO:00022249.9FGA, FGB, FGG
27ER to Golgi vesicle-mediated transportGO:00068889.9F10, F2, F5, F8
28blood coagulation, intrinsic pathwayGO:00075979.8F10, F11, F2, F8, VWF
29positive regulation of ERK1 and ERK2 cascadeGO:00703749.8FGA, FGB, FGG, SERPINF2
30plasminogen activationGO:00316399.7F11, FGA, FGB, FGG, PLAT
31post-translational protein modificationGO:00436879.6C3, F5, FGA, FGG, SERPINC1
32innate immune responseGO:00450879.5C3, CD46, CFI, CFP, CR1, FGA
33regulation of complement activationGO:00304499.4C3, CD46, CFI, CFP, CR1, F2
34cellular protein metabolic processGO:00442679.3C3, F2, F5, FGA, FGG, SERPINC1
35platelet activationGO:00301689.3F2, F5, F8, FGA, FGB, FGG
36fibrinolysisGO:00427308.9F2, FGA, FGB, FGG, PLAT, SERPINF2
37platelet degranulationGO:00025768.8F5, F8, FGA, FGB, FGG, SERPINF2
38proteolysisGO:00065088.0C3, CD46, CFI, F10, F11, F2
39hemostasisGO:00075997.8F10, F11, F2, F3, F5, F8
40blood coagulationGO:00075967.2F10, F11, F2, F3, F5, F8

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cell adhesion molecule bindingGO:005083910.7FGA, FGB, FGG
2protein binding, bridgingGO:003067410.6FGA, FGB, FGG
3peptidase activityGO:00082339.6CFI, F10, F11, F2, PLAT
4receptor bindingGO:00051029.4C3, F2, FGA, FGB, FGG, PLAT
5protease bindingGO:00020209.2F3, SERPINC1, SERPINF2, VWF
6serine-type peptidase activityGO:00082368.7CFI, F10, F11, F2, PLAT
7serine-type endopeptidase activityGO:00042527.9C3, CFI, F10, F11, F2, F3
8protein bindingGO:00055154.9C3, CD46, CFI, F10, F11, F2

Sources for Afibrinogenemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet