MCID: AFB001
MIFTS: 41

Afibrinogenemia malady

Genetic diseases, Rare diseases, Blood diseases categories

Aliases & Classifications for Afibrinogenemia

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Sources:
45NIH Rare Diseases, 47Novoseek, 24GTR, 65UMLS
See all sources

Aliases & Descriptions for Afibrinogenemia:

Name: Afibrinogenemia 45 47 24 65
Hereditary Factor I Deficiency Disease 65
 
Congenital Afibrinogenemia 45
Afibrinogenemia Congenital 45


Classifications:



Summaries for Afibrinogenemia

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NIH Rare Diseases:45 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 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. last updated: 7/17/2009

MalaCards based summary: Afibrinogenemia, also known as hereditary factor i deficiency disease, is related to dysfibrinogenemia, congenital and afibrinogenemia, congenital. An important gene associated with Afibrinogenemia is FGB (Fibrinogen Beta Chain), and among its related pathways are Cell adhesion_Plasmin signaling and Integrin cell surface interactions. Affiliated tissues include placenta, liver and prostate, and related mouse phenotypes are reproductive system and hematopoietic 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 161)
idRelated DiseaseScoreTop Affiliating Genes
1dysfibrinogenemia, congenital30.4FGA, FGB, FGG
2afibrinogenemia, congenital29.9C3, CFI, CR1, F11, F2, F3
3myocardial infarction28.7F10, F11, F2, F3, F5, FGA
4fibrocartilaginous embolism10.3FGA, FGB, FGG
5hypoganglionosis10.3FGA, FGB, FGG
6nasopalpebral lipoma - coloboma - telecanthus10.3FGA, FGB, FGG
7stomatocytosis i10.3C3, CFP
8pilocytic astrocytoma of cerebellum10.2CR1, FGB
9complement factor h deficiency10.2CD46, CFI
10thrombocytopenia10.2
11prostatitis10.2
12fga-related congenital afibrinogenemia10.2
13fgb-related congenital afibrinogenemia10.2
14fgg-related congenital afibrinogenemia10.2
15hemolytic uremic syndrome, atypical 510.2C3, CD46
16rumination disorder10.2CR1, F8
17squamous cell papilloma10.2F2, F8
18complex regional pain syndrome10.2C3, CFI, CFP
19type 2n von willebrand disease10.2F8, VWF
20tyrobp-related polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy10.2F8, VWF
21familial hemangioma10.2F8, VWF
22type 2m von willebrand disease10.2F8, VWF
23diffuse idiopathic skeletal hyperostosis10.2F2, F3
24hypersensitivity reaction type iv disease10.2C3, CFP
25relapsing polychondritis10.2F2, F3
26irritable bowel syndrome10.2F2, F3
27barrett's adenocarcinoma10.2F2, F3
28cervical alveolar soft part sarcoma10.2F2, F3
29nephropathia epidemica10.2F2, F3
30acute anterolateral myocardial infarction10.1C3, F3
31bacteremia10.1
32protein c deficiency10.1
33spinal cord infarction10.1
34autoimmune hemolytic anemia, warm type10.1C3, CD46, CFI
35hemolytic uremic syndrome, atypical 110.1C3, CD46, CFI
36suppurative uveitis10.1F2, F3
37cerebral neuroblastoma10.1F2, F3
38mucinous intrahepatic cholangiocarcinoma10.1C3, CFP, CR1
39dic in newborn10.1F2, F3
40abducens nerve neoplasm10.1F2, F3
41anterior scleritis10.1F2, F3
42splenic manifestation of leukemia10.1F2, F3
43neonatal adrenoleukodystrophy10.1C3, CD46, CFP
44corneal argyrosis10.1C3, CD46, CFP
45chromoblastomycosis10.1CD46, CR1
46acral dysostosis dyserythropoiesis syndrome10.1F11, F8, VWF
47bernard-soulier syndrome, type c10.1F2, FGA, VWF
48lambert-eaton myasthenic syndrome10.1F2, F3, SRSF1
49acquired fructose intolerance10.1C3, F5
50hepatic cystic hamartoma10.1F10, F3

Graphical network of the top 20 diseases related to Afibrinogenemia:



Diseases related to afibrinogenemia

Symptoms for Afibrinogenemia

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Drugs & Therapeutics for Afibrinogenemia

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1AlbunexPhase 2, Phase 3145
2Complement System ProteinsPhase 2171
3Complement Factor IPhase 236

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1Human Fibrinogen Concentrate (FGTW) in Pediatric Patients With Congenital Fibrinogen DeficiencyCompletedNCT02094430Phase 2, Phase 3
2Haemocomplettan® P During Elective Complex Cardiac SurgeryCompletedNCT01124981Phase 2, Phase 3
3Efficacy and Safety Study of Octafibrin for On-demand Treatment of Acute Bleeding and to Prevent Bleeding During and After SurgeryRecruitingNCT02267226Phase 3
4Study to Assess the Efficacy, Safety and Pharmacokinetic of Octafibrin in Paediatric Subjects With Fibrinogen DeficiencyNot yet recruitingNCT02408484Phase 3
5Fibrinogen Concentrate (Human) − Efficacy and Safety StudyWithdrawnNCT00916656Phase 3
6Pharmacokinetic, Efficacy, and Safety Study of Octafibrin Compared to Haemocomplettan/RiastapCompletedNCT01575756Phase 2
7Human Fibrinogen - PharmacokineticsCompletedNCT00496262Phase 2
8Pharmacokinetic, Efficacy and Safety of BT524 in Patients With Congenital Fibrinogen DeficiencyActive, not recruitingNCT02065882Phase 1, Phase 2
9Pharmacokinetics, Efficacy, and Safety of Human Plasma-Derived Fibrinogen (FIB Grifols) in Patients With Congenital AfibrinogenaemiaNot yet recruitingNCT02281500Phase 1, Phase 2
10RiaSTAP vs. Conventional Transfusion in Patients Having Heart Valve SurgeryTerminatedNCT01283321Phase 2
11An Observational Cohort Study of the Safety and Efficacy of Fibrinogen Concentrate, Human (FCH) in Subjects With Congenital Fibrinogen DeficiencyRecruitingNCT02427217

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 Afibrinogenemia24

Anatomical Context for Afibrinogenemia

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MalaCards organs/tissues related to Afibrinogenemia:

33
Placenta, Liver, Prostate, Spinal cord, Uterus, Lung, Kidney

Animal Models for Afibrinogenemia or affiliated genes

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MGI Mouse Phenotypes related to Afibrinogenemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.1C3, CD46, F10, F2, F8, FGA
2MP:00053977.2C3, F11, F2, F3, F8, FGA
3MP:00053877.1C3, CFP, F11, F2, F3, F8
4MP:00053856.0C3, CFP, F10, F11, F2, F3
5MP:00053765.8C3, CFI, CFP, F10, F11, F2
6MP:00107685.7C3, CFP, F10, F11, F2, F3

Publications for Afibrinogenemia

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Articles related to Afibrinogenemia:

(show top 50)    (show all 225)
idTitleAuthorsYear
1
Thrombosis of abdominal aorta in congenital afibrinogenemia: case report and review of literature. (25421938)
2015
2
Venous thrombosis in afibrinogenemia: a successful use of rivaroxaban. (26036982)
2015
3
Spontaneous splenic rupture in a patient with congenital afibrinogenemia. (26078670)
2014
4
Spontaneous epidural and subdural hematoma in a child with afibrinogenemia and postoperative management. (24509337)
2014
5
Treatment of afibrinogenemia in a chihuahua. (23148136)
2013
6
Chronic subdural hematoma in a patient with congenital afibrinogenemia successfully treated with fibrinogen replacement. (22123482)
2011
7
Successive bleeding and thrombotic complications in a patient with afibrinogenemia: a case report. (21496887)
2011
8
Identification and functional characterization of a novel nonsense mutation in FGA accounting for congenital afibrinogenemia in six Egyptian patients. (20051841)
2010
9
A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream. (19417632)
2009
10
Severe spontaneous arterial thrombotic manifestations in patients with inherited hypo- and afibrinogenemia. (19335753)
2009
11
A case of afibrinogenemia associated with A-alpha chain gene compound heterozygosity (HUMFIBRA c.[4110delA]+[3200+1G>T]). (17179831)
2007
12
Afibrinogenemia and a circulating antibody against fibrinogen in a Bichon Frise dog. (15902668)
2005
13
Mesenteric venous thrombosis in a patient with congenital afibrinogenemia and diffuse peritonitis. (15503018)
2005
14
Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion. (12893758)
2003
15
Genetic analysis of a Chinese family with inherited afibrinogenemia]. (14703415)
2003
16
Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia. (12161363)
2002
17
Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs. (11739173)
2001
18
Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation. (11001902)
2000
19
Recurrent spontaneous intracerebral hematoma in a patient with afibrinogenemia. (9459359)
1998
20
Dysfibrinogenemia or afibrinogenemia in a Border Leicester lamb. (9220135)
1997
21
Successful treatment of two brothers with congenital afibrinogenemia for splenic rupture using heat- and solvent detergent-treated fibrinogen concentrates. (9329471)
1997
22
Effect of fibrinogen substitution in afibrinogenemia on hemorheology and platelet function. (8571310)
1995
23
Failure of DDAVP to shorten the prolonged bleeding time of two patients with congenital afibrinogenemia. (1471077)
1992
24
Coexistence of congenital afibrinogenemia and protein C deficiency in a patient. (1503100)
1992
25
Perioperative management of a patient with congenital afibrinogenemia. (15235972)
1990
26
Fibrinogenolytic afibrinogenemia after envenomation by western diamondback rattlesnake (Crotalus atrox). (6537796)
1984
27
Afibrinogenemia following snake bite (Crotalus durissus terrificus). (7446831)
1980
28
Platelet fibrinogen: subcellular localization by means of immunofluorescent studies in normals and in congenital afibrinogenemia. (91563)
1979
29
Platelet adhesiveness and aggregation in congenital afibrinogenemia. An investigation of three patients with post-transfusion, cross-correction studies between two of them. (1111662)
1975
30
Afibrinogenemia with severe head trauma. (5066707)
1972
31
Splenic hemangioma with thrombocytopenia and afibrinogenemia. (5667417)
1968
32
Pathology of afibrinogenemia and fibrinogenopenia. (13959161)
1963
33
Fibrinolysis and afibrinogenemia in thoracic surgery. (13976412)
1963
34
Afibrinogenemia; etiology and management. A review of the literature. (14492342)
1962
35
A study of fibrinogen turnover in classical hemophilia and congenital afibrinogenemia. (14490598)
1961
36
Fibrinogen determinations and afibrinogenemia. (13626980)
1959
37
Afibrinogenemia; case report. (13449603)
1957
38
Congenital afibrinogenemia; the first case from Japan. (13434766)
1957
39
Obstetrical hemorrhages caused by afibrinogenemia]. (13455873)
1957
40
Afibrinogenemia resulting from amniotic fluid infusion. (13361119)
1956
41
Afibrinogenemia: incidence in a geographic area; statistical survey for 1953 and 1954. (13297308)
1956
42
Acute afibrinogenemia following elective cesarean section; report of a case. (13288967)
1956
43
Afibrinogenemia in pregnancy. (13293913)
1956
44
Afibrinogenemia as an obstetric complication. (13346479)
1956
45
Current concepts of afibrinogenemia in pregnancy. (13272002)
1955
46
Afibrinogenemia as a cause of hemorrhage in pregnancy. (13234921)
1955
47
Spontaneous afibrinogenemia in cancer of prostate: report of two cases. (13216964)
1954
48
Studies on the metabolism of fibrinogen in two patients with congenital afibrinogenemia. (13066510)
1953
49
Studies on afibrinogenemia. II. The defibrinating effect on dog blood of intravenous injection of thromboplastic material. (14830934)
1951
50
Acquired afibrinogenemia in pregnancy. (18115436)
1949

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 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8FGA, FGB, FGG
29.8FGA, FGB, FGG
39.7C3, CFI, FGG
49.6F10, F2
59.3FGA, FGB, FGG, VWF
69.3FGA, FGB, FGG, VWF
7
Show member pathways
9.2C3, CD46, CFI, CR1
8
Show member pathways
9.0F2, FGA, FGB, FGG, VWF
99.0F2, FGA, FGB, FGG, VWF
10
Show member pathways
8.9C3, CD46, CFI, CFP, CR1
11
Show member pathways
7.6F3, F5, F8, FGA, FGB, FGG
12
Show member pathways
6.9F10, F11, F2, F3, F5, F8
13
Show member pathways
6.4F10, F11, F2, F3, F5, F8
14
Show member pathways
6.4F10, F11, F2, F3, F5, F8
15
Show member pathways
5.1C3, 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 16)
idNameGO IDScoreTop Affiliating Genes
1fibrinogen complexGO:000557710.5FGA, FGB, FGG
2cell cortexGO:000593810.3FGA, FGB, FGG
3ER to Golgi transport vesicleGO:003013410.1F5, F8
4external side of plasma membraneGO:00098979.9FGA, FGB, FGG, VWF
5intrinsic component of external side of plasma membraneGO:00312339.9F10, F3
6extracellular vesicleGO:19035619.9F5, FGA, FGB
7blood microparticleGO:00725629.8C3, F2, FGA, FGB, FGG
8platelet alpha granuleGO:00310919.4F5, FGA, FGB, FGG, VWF
9platelet alpha granule lumenGO:00310939.0F5, F8, FGA, FGB, FGG, VWF
10extracellular matrixGO:00310128.8CFP, F2, F3, VWF
11endoplasmic reticulum lumenGO:00057888.7CFP, F10, F2, F5, F8
12cell surfaceGO:00099868.2CD46, CR1, F3, FGA, FGB, FGG
13extracellular regionGO:00055766.3C3, CFI, CFP, F10, F11, F2
14extracellular spaceGO:00056156.3C3, CFI, CFP, F11, F2, F3
15extracellular exosomeGO:00700626.0C3, CD46, CFI, CR1, F11, F2
16plasma membraneGO:00058865.9C3, CD46, CR1, F10, F11, F2

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

(show all 37)
idNameGO IDScoreTop Affiliating Genes
1induction of bacterial agglutinationGO:004315210.7FGA, FGB
2blood coagulation, fibrin clot formationGO:007237810.5FGA, FGB, FGG
3complement activation, alternative pathwayGO:000695710.5C3, CFP
4positive regulation of peptide hormone secretionGO:009027710.4FGA, FGB, FGG
5negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:190204210.4FGA, FGB, FGG
6negative regulation of endothelial cell apoptotic processGO:200035210.4FGA, FGB, FGG
7platelet aggregationGO:007052710.4FGA, FGB, FGG
8positive regulation of protein secretionGO:005071410.4FGA, FGB, FGG
9positive regulation of exocytosisGO:004592110.4FGA, FGB, FGG
10regulation of blood coagulationGO:003019310.4F11, F2
11positive regulation of heterotypic cell-cell adhesionGO:003411610.4FGA, FGB, FGG
12response to calcium ionGO:005159210.4FGA, FGB, FGG
13positive regulation of substrate adhesion-dependent cell spreadingGO:190002610.4FGA, FGB, FGG
14protein polymerizationGO:005125810.3FGA, FGB, FGG
15positive regulation of vasoconstrictionGO:004590710.3FGA, FGB, FGG
16peptidyl-glutamic acid carboxylationGO:001718710.2F10, F2
17acute-phase responseGO:000695310.2F2, F8, FGA
18adaptive immune responseGO:000225010.1CD46, FGA, FGB
19cell-matrix adhesionGO:000716010.1FGA, FGB, FGG
20fibrinolysisGO:004273010.1F2, FGA, FGB, FGG
21plasminogen activationGO:003163910.0F11, FGA, FGB, FGG
22positive regulation of ERK1 and ERK2 cascadeGO:00703749.9C3, FGA, FGB, FGG
23blood coagulation, extrinsic pathwayGO:00075989.8F10, F3
24cellular protein complex assemblyGO:00436239.8FGA, FGB, FGG
25complement activation, classical pathwayGO:00069589.7C3, CD46, CFI, CR1
26response to estradiolGO:00323559.5C3, F3, FGA
27response to woundingGO:00096119.4F2, F3, VWF
28regulation of complement activationGO:00304499.4C3, CD46, CFI, CFP, CR1
29blood coagulation, intrinsic pathwayGO:00075979.2F10, F11, F2, F8, VWF
30extracellular matrix organizationGO:00301989.0FGA, FGB, FGG, VWF
31proteolysisGO:00065089.0CD46, CFI, F10, F11, F2
32platelet degranulationGO:00025768.9F5, F8, FGA, FGB, FGG, VWF
33post-translational protein modificationGO:00436878.8CFP, F10, F2, F5, F8
34innate immune responseGO:00450878.6C3, CD46, CFI, CFP, CR1, FGA
35cellular protein metabolic processGO:00442678.5CFP, F10, F2, F5, F8, FGA
36platelet activationGO:00301687.9F2, F5, F8, FGA, FGB, FGG
37blood coagulationGO:00075966.1C3, F10, F11, F2, F3, F5

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

idNameGO IDScoreTop Affiliating Genes
1cell adhesion molecule bindingGO:005083910.2FGA, FGB, FGG
2protein binding, bridgingGO:00306749.5FGA, FGB, FGG
3serine-type endopeptidase activityGO:00042529.4CFI, F10, F11, F2
4receptor bindingGO:00051029.2C3, F2, FGA, FGB, FGG

Sources for Afibrinogenemia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet