MCID: AFB001
MIFTS: 46

Afibrinogenemia malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Afibrinogenemia

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Aliases & Descriptions for Afibrinogenemia:

Name: Afibrinogenemia 45 47 24 65
Congenital Hypofibrinogenemia 65
 
Congenital Afibrinogenemia 45
Afibrinogenemia Congenital 45

Classifications:



External Ids:

UMLS65 C2584774

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 congenital hypofibrinogenemia, is related to myocardial infarction 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 Staphylococcus aureus infection. Affiliated tissues include heart, lung and brain, 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 156)
idRelated DiseaseScoreTop Affiliating Genes
1myocardial infarction26.0F10, F11, F2, F3, F5, F8
2afibrinogenemia, congenital12.3
3fga-related congenital afibrinogenemia11.9
4fgb-related congenital afibrinogenemia11.9
5fgg-related congenital afibrinogenemia11.9
6hypoganglionosis10.7FGA, FGB, FGG
7peripheral motor neuropathy-dysautonomia syndrome10.7FGA, FGB, FGG
8amyloidosis, familial visceral10.6FGA, FGB, FGG
9stomatocytosis i10.6C3, CFP
10brain stem infarction10.6CR1, FGB
11scarlet fever10.6C3, F2
12hemolytic uremic syndrome, atypical 510.5C3, CD46
13prolapse of female genital organ10.5CR1, F8
14angioedema10.5C3, CFP
15type 2n von willebrand disease10.5F8, VWF
16tyrobp-related polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy10.4F8, VWF
17acral dysostosis dyserythropoiesis syndrome10.4F8, VWF
18follicular dendritic cell sarcoma10.4C3, CFP
19type 2m von willebrand disease10.4F8, VWF
20central nervous system osteosarcoma10.4F2, F3
21esophagus melanoma10.4F2, F3
22epiglottitis10.4F2, F3
23cyclothymic disorder10.4F2, F3
24vaginal villous adenoma10.4F2, F3
25cavernous hemangioma of colon10.4F2, F3
26metaphyseal dysplasia10.4C3, F3
27silo filler's disease10.4F2, F3
28autoimmune hemolytic anemia, warm type10.3C3, CD46, CFI
29herpes gestationis10.3F2, F3
30abducens nerve neoplasm10.3F2, F3
31hypertrichosis10.3F2, F3
32hypersensitivity reaction type iii disease10.3CD46, CR1
33microcytic anemia10.3F2, F3
34pancreatoblastoma10.3F2, F8
35splenic abscess10.3F2, F3
36skull base meningioma10.3F2, F3
37neonatal adrenoleukodystrophy10.3C3, CD46, CFP
38newcastle disease10.3C3, CD46, CFP
39bernard-soulier syndrome, type c10.2F2, FGA, VWF
40kidney sarcoma10.2F2, F3
41acquired hypoprothrombinemia10.2F5, F8
42fowler's syndrome10.1F2, F3, F8
43tall stature-scoliosis-macrodactyly of the great toes syndrome10.1F2, F5
44factor v and factor viii, combined deficiency of10.1F5, F8
45pseudoglandular variant testicular seminoma10.1C3, CFI, CFP, CR1
46liver failure acute infantile10.1F2, F5
47sugarman brachydactyly10.1F2, F5
48hemolytic uremic syndrome, atypical 310.1C3, CFI, CFP, CR1
49internuclear ophthalmoplegia10.1F2, F5
50pericardial mesothelioma10.1F2, F5

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):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1HemostaticsPhase 3, Phase 21082
2Immunosuppressive AgentsPhase 210422
3Immunologic FactorsPhase 218483
4Complement Inactivating AgentsPhase 271
5Complement Factor IPhase 236
6Complement System ProteinsPhase 2190

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
3Study to Assess the Efficacy, Safety and Pharmacokinetic of Octafibrin in Paediatric Subjects With Fibrinogen DeficiencyRecruitingNCT02408484Phase 3
4Efficacy and Safety Study of Octafibrin for On-demand Treatment of Acute Bleeding and to Prevent Bleeding During and After SurgeryRecruitingNCT02267226Phase 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
8Pharmacokinetics, Efficacy, and Safety of Human Plasma-Derived Fibrinogen (FIB Grifols) in Patients With Congenital AfibrinogenaemiaRecruitingNCT02281500Phase 1, Phase 2
9Pharmacokinetic, Efficacy and Safety of BT524 in Patients With Congenital Fibrinogen DeficiencyActive, not recruitingNCT02065882Phase 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

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Genetic Tests for Afibrinogenemia

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Anatomical Context for Afibrinogenemia

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MalaCards organs/tissues related to Afibrinogenemia:

33
Heart, Lung, Brain, Colon, Breast, Prostate, Liver

Animal Models for Afibrinogenemia or affiliated genes

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MGI Mouse Phenotypes related to Afibrinogenemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053977.3C3, CFI, F11, F2, F3, F8
2MP:00053876.9C3, CFP, F11, F2, F3, F8
3MP:00053765.9C3, CFI, CFP, F10, F11, F2
4MP:00107685.6C3, CFP, F10, F11, F2, F3
5MP:00053855.4C3, CD46, CFP, F10, F11, F2

Publications for Afibrinogenemia

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Articles related to Afibrinogenemia:

(show top 50)    (show all 229)
idTitleAuthorsYear
1
A Rare Complication Of Congenital Afibrinogenemia: Bone Cysts. (27094883)
2016
2
Thrombosis of abdominal aorta in congenital afibrinogenemia: case report and review of literature. (25421938)
2015
3
Venous thrombosis in afibrinogenemia: a successful use of rivaroxaban. (26036982)
2015
4
Spontaneous splenic rupture in a patient with congenital afibrinogenemia. (26078670)
2014
5
Spontaneous epidural and subdural hematoma in a child with afibrinogenemia and postoperative management. (24509337)
2014
6
Treatment of afibrinogenemia in a chihuahua. (23148136)
2013
7
Chronic subdural hematoma in a patient with congenital afibrinogenemia successfully treated with fibrinogen replacement. (22123482)
2011
8
Successive bleeding and thrombotic complications in a patient with afibrinogenemia: a case report. (21496887)
2011
9
Identification and functional characterization of a novel nonsense mutation in FGA accounting for congenital afibrinogenemia in six Egyptian patients. (20051841)
2010
10
A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream. (19417632)
2009
11
Severe spontaneous arterial thrombotic manifestations in patients with inherited hypo- and afibrinogenemia. (19335753)
2009
12
A case of afibrinogenemia associated with A-alpha chain gene compound heterozygosity (HUMFIBRA c.[4110delA]+[3200+1G>T]). (17179831)
2007
13
Afibrinogenemia and a circulating antibody against fibrinogen in a Bichon Frise dog. (15902668)
2005
14
Mesenteric venous thrombosis in a patient with congenital afibrinogenemia and diffuse peritonitis. (15503018)
2005
15
Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion. (12893758)
2003
16
Genetic analysis of a Chinese family with inherited afibrinogenemia]. (14703415)
2003
17
Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia. (12161363)
2002
18
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
19
Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation. (11001902)
2000
20
Recurrent spontaneous intracerebral hematoma in a patient with afibrinogenemia. (9459359)
1998
21
Dysfibrinogenemia or afibrinogenemia in a Border Leicester lamb. (9220135)
1997
22
Successful treatment of two brothers with congenital afibrinogenemia for splenic rupture using heat- and solvent detergent-treated fibrinogen concentrates. (9329471)
1997
23
Effect of fibrinogen substitution in afibrinogenemia on hemorheology and platelet function. (8571310)
1995
24
Congenital afibrinogenemia in Hasan Sadikin Hospital. (7886594)
1993
25
Failure of DDAVP to shorten the prolonged bleeding time of two patients with congenital afibrinogenemia. (1471077)
1992
26
Perioperative management of a patient with congenital afibrinogenemia. (15235972)
1990
27
Fibrinogenolytic afibrinogenemia after envenomation by western diamondback rattlesnake (Crotalus atrox). (6537796)
1984
28
Afibrinogenemia following snake bite (Crotalus durissus terrificus). (7446831)
1980
29
Platelet fibrinogen: subcellular localization by means of immunofluorescent studies in normals and in congenital afibrinogenemia. (91563)
1979
30
Platelet adhesiveness and aggregation in congenital afibrinogenemia. An investigation of three patients with post-transfusion, cross-correction studies between two of them. (1111662)
1975
31
Afibrinogenemia with severe head trauma. (5066707)
1972
32
Splenic hemangioma with thrombocytopenia and afibrinogenemia. (5667417)
1968
33
Pathology of afibrinogenemia and fibrinogenopenia. (13959161)
1963
34
Fibrinolysis and afibrinogenemia in thoracic surgery. (13976412)
1963
35
Afibrinogenemia; etiology and management. A review of the literature. (14492342)
1962
36
A study of fibrinogen turnover in classical hemophilia and congenital afibrinogenemia. (14490598)
1961
37
Fibrinogen determinations and afibrinogenemia. (13626980)
1959
38
Afibrinogenemia; case report. (13449603)
1957
39
Congenital afibrinogenemia; the first case from Japan. (13434766)
1957
40
Obstetrical hemorrhages caused by afibrinogenemia]. (13455873)
1957
41
Afibrinogenemia resulting from amniotic fluid infusion. (13361119)
1956
42
Afibrinogenemia: incidence in a geographic area; statistical survey for 1953 and 1954. (13297308)
1956
43
Acute afibrinogenemia following elective cesarean section; report of a case. (13288967)
1956
44
Afibrinogenemia in pregnancy. (13293913)
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 14)
idSuper pathwaysScoreTop Affiliating Genes
19.8FGA, FGB, FGG
29.7C3, CFI, FGG
39.6F10, F2
4
Show member pathways
9.3FGA, FGB, FGG, VWF
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
6.9F10, F11, F2, F3, F5, F8
12
Show member pathways
6.4F10, F11, F2, F3, F5, F8
13
Show member pathways
6.4F10, F11, F2, F3, F5, F8
14
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:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:00725629.9FGA, FGB, FGG
2platelet alpha granule lumenGO:00310939.1F5, FGA, FGB, FGG, VWF
3endoplasmic reticulum lumenGO:00057889.0F10, F5, F8

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1complement activation, alternative pathwayGO:000695710.5C3, CFP
2positive regulation of heterotypic cell-cell adhesionGO:003411610.4FGA, FGB, FGG
3negative regulation of endothelial cell apoptotic processGO:200035210.3FGA, FGB, FGG
4fibrinolysisGO:004273010.3FGA, FGB, FGG
5negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:190204210.3FGA, FGB, FGG
6response to calcium ionGO:005159210.2FGA, FGB, FGG
7signal peptide processingGO:000646510.2F10, F2
8positive regulation of exocytosisGO:004592110.2FGA, FGB, FGG
9platelet activationGO:003016810.1FGA, FGB, FGG
10adaptive immune responseGO:000225010.0CD46, FGA, FGB
11regulation of complement activationGO:00304499.9C3, CD46, CFP
12complement activation, classical pathwayGO:00069589.8CD46, CFI, CR1
13platelet degranulationGO:00025769.7FGA, FGB, FGG, VWF
14plasminogen activationGO:00316399.5F11, FGA, FGB, FGG
15response to woundingGO:00096119.3F2, F3, VWF
16proteolysisGO:00065089.3C3, CD46, F11, F2
17response to estradiolGO:00323559.2C3, F3, FGA
18innate immune responseGO:00450879.1CD46, CFI, CFP, FGA, FGB
19post-translational protein modificationGO:00436879.0CFP, F10, F5, F8
20blood coagulationGO:00075968.8F10, F2, F5, F8, FGA
21cellular protein metabolic processGO:00442678.7F2, F5, F8, FGA

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