MCID: AFB001
MIFTS: 38

Afibrinogenemia malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Afibrinogenemia

About this section

Aliases & Descriptions for Afibrinogenemia:

Name: Afibrinogenemia 46 25 48 66
Congenital Hypofibrinogenemia 66
 
Congenital Afibrinogenemia 46
Afibrinogenemia Congenital 46

Classifications:



Summaries for Afibrinogenemia

About this section
NIH Rare Diseases:46 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 fga-related congenital afibrinogenemia. An important gene associated with Afibrinogenemia is FGA (Fibrinogen Alpha Chain), and among its related pathways are Staphylococcus aureus infection and Formation of Fibrin Clot (Clotting Cascade). Affiliated tissues include placenta, heart and prostate.

Related Diseases for Afibrinogenemia

About this section

Graphical network of the top 20 diseases related to Afibrinogenemia:



Diseases related to afibrinogenemia

Symptoms for Afibrinogenemia

About this section

Drugs & Therapeutics for Afibrinogenemia

About this section

Interventional clinical trials:

(show all 13)
idNameStatusNCT IDPhase
1Treatment of Coagulopathy Trauma-induced Guided by Thromboelastography in Politrauma Patients.RecruitingNCT02864875Phase 4
2Human Fibrinogen Concentrate in Pediatric Cardiac SurgeryNot yet recruitingNCT02822599Phase 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 Concentrate (Human) − Efficacy and Safety StudyWithdrawnNCT00916656Phase 3
9Pharmacokinetic, Efficacy, and Safety Study of Octafibrin Compared to Haemocomplettan/RiastapCompletedNCT01575756Phase 2
10Human Fibrinogen - PharmacokineticsCompletedNCT00496262Phase 2
11Pharmacokinetics, Efficacy, and Safety of Human Plasma-Derived Fibrinogen (FIB Grifols) in Patients With Congenital AfibrinogenaemiaRecruitingNCT02281500Phase 1, Phase 2
12RiaSTAP vs. Conventional Transfusion in Patients Having Heart Valve SurgeryTerminatedNCT01283321Phase 2
13An 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

About this section

Genetic tests related to Afibrinogenemia:

id Genetic test Affiliating Genes
1 Afibrinogenemia25

Anatomical Context for Afibrinogenemia

About this section

MalaCards organs/tissues related to Afibrinogenemia:

34
Placenta, Heart, Prostate, Liver, Uterus, Bone, Spinal cord

Animal Models for Afibrinogenemia or affiliated genes

About this section

Publications for Afibrinogenemia

About this section

Articles related to Afibrinogenemia:

(show top 50)    (show all 234)
idTitleAuthorsYear
1
Perioperative Coagulation Management in a Patient with Congenital Afibrinogenemia during Revision Total Hip Arthroplasty. (27472424)
2016
2
Venous thrombosis in afibrinogenemia: a successful use of rivaroxaban. (26036982)
2015
3
Yes or no for secondary prophylaxis in afibrinogenemia? (26484644)
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
Pulmonary embolism in a patient with congenital afibrinogenemia. (23855372)
2013
8
Successive bleeding and thrombotic complications in a patient with afibrinogenemia: a case report. (21496887)
2011
9
Thrombotic and hemorrhagic presentation of congenital hypo/afibrinogenemia. (20870369)
2011
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
Mesenteric venous thrombosis in a patient with congenital afibrinogenemia and diffuse peritonitis. (15503018)
2005
14
The DNA-pooling technique allowed for the identification of three novel mutations responsible for afibrinogenemia. (16241964)
2005
15
Congenital afibrinogenemia complicated by spontaneous cerebral hemorrhage and unusually quick resorption. (15726270)
2005
16
Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion. (12893758)
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
Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes. (11354637)
2001
20
Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation. (11001902)
2000
21
Recurrent spontaneous intracerebral hematoma in a patient with afibrinogenemia. (9459359)
1998
22
Dysfibrinogenemia or afibrinogenemia in a Border Leicester lamb. (9220135)
1997
23
Successful treatment of two brothers with congenital afibrinogenemia for splenic rupture using heat- and solvent detergent-treated fibrinogen concentrates. (9329471)
1997
24
Effect of fibrinogen substitution in afibrinogenemia on hemorheology and platelet function. (8571310)
1995
25
Prophylactic cryoprecipitate in congenital afibrinogenemia. (3180628)
1988
26
Congenital afibrinogenemia with osteomyelitis of mandible. (6582151)
1983
27
Dental treatment of a patient with congenital afibrinogenemia--complications of supportive care. (6461847)
1981
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
Afibrinogenemia with severe head trauma. (5066707)
1972
31
Splenic hemangioma with thrombocytopenia and afibrinogenemia. (5667417)
1968
32
Platelet function in congenital afibrinogenemia. (5865600)
1965
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
Delayed postpartum hemorrhage with afibrinogenemia. (13556210)
1958
37
Afibrinogenemia; case report. (13449603)
1957
38
Congenital afibrinogenemia; the first case from Japan. (13434766)
1957
39
Uterine hemorrhage and afibrinogenemia. (13424583)
1957
40
Afibrinogenemia resulting from amniotic fluid infusion. (13361119)
1956
41
Afibrinogenemia in pregnancy. (13293913)
1956
42
Fibrinemboli of the lungs with afibrinogenemia after cesarean section, without the presence of amniotic epithelial squames. (13381142)
1956
43
Massive fatal postpartum hemorrhage due to afibrinogenemia associated with premature separation of the placenta. (13378540)
1956
44
Afibrinogenemia as a cause of hemorrhage in pregnancy. (13234921)
1955
45
Afibrinogenemia; report of a case associated with long-standing fetal death in utero and Rh isosensitization. (13254056)
1955
46
Afibrinogenemia; its occurrence in two patients with late postpartum hemorrhage. (13133241)
1954
47
Studies on the metabolism of fibrinogen in two patients with congenital afibrinogenemia. (13066510)
1953
48
Studies on afibrinogenemia. II. The defibrinating effect on dog blood of intravenous injection of thromboplastic material. (14830934)
1951
49
Studies on afibrinogenemia. I. Afibrinogenemia in a patient with septic abortion, acute yellow atrophy of the liver and bacteremia due to E. coli. (14830933)
1951
50
Afibrinogenemia occurring in a case of malignancy of the prostate with bone metastases. (18127877)
1949

Variations for Afibrinogenemia

About this section

Clinvar genetic disease variations for Afibrinogenemia:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1FGGNM_021870.2(FGG): c.78+5G> Asingle nucleotide variantPathogenicrs587776837GRCh38Chr 4, 154612527: 154612527
2FGGNM_021870.2(FGG): c.307+5G> Asingle nucleotide variantPathogenicrs587776838GRCh37Chr 4, 155533165: 155533165
3FGGNM_021870.2(FGG): c.667-320A> Tsingle nucleotide variantPathogenicrs587776839GRCh38Chr 4, 154608970: 154608970
4FGBNM_005141.4(FGB): c.1148T> G (p.Leu383Arg)single nucleotide variantPathogenicrs121909621GRCh37Chr 4, 155490855: 155490855
5FGBNM_005141.4(FGB): c.1289G> A (p.Gly430Asp)single nucleotide variantPathogenicrs121909622GRCh37Chr 4, 155491615: 155491615
6FGBNM_005141.4(FGB): c.958+13C> Tsingle nucleotide variantPathogenicrs606231223GRCh38Chr 4, 154569320: 154569320
7FGBNM_005141.4(FGB): c.1244+1G> Tsingle nucleotide variantPathogenicrs606231224GRCh37Chr 4, 155490952: 155490952
8FGBNM_005141.4(FGB): c.605T> A (p.Leu202Gln)single nucleotide variantPathogenicrs121909624GRCh37Chr 4, 155488859: 155488859
9FGBNM_005141.4(FGB): c.139C> T (p.Arg47Ter)single nucleotide variantPathogenicrs121909625GRCh37Chr 4, 155486984: 155486984
10FGANC_000004.12deletionPathogenicGRCh38Chr 4, 154580323: 154590216
11FGANM_000508.4(FGA): c.510+1G> Tsingle nucleotide variantPathogenicrs146387238GRCh37Chr 4, 155508663: 155508663
12FGANM_000508.4(FGA): c.711dupT (p.Lys238Terfs)duplicationPathogenicrs606231225GRCh38Chr 4, 154586718: 154586718

Expression for genes affiliated with Afibrinogenemia

About this section
Search GEO for disease gene expression data for Afibrinogenemia.

Pathways for genes affiliated with Afibrinogenemia

About this section

Pathways related to Afibrinogenemia according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
19.0CFI, FGG
2
Show member pathways
8.9FGA, FGB, FGG
3
Show member pathways
8.9FGA, FGB, FGG
4
Show member pathways
8.9FGA, FGB, FGG
5
Show member pathways
8.9FGA, FGB, FGG
6
Show member pathways
8.9FGA, FGB, FGG
78.9FGA, FGB, FGG
88.9FGA, FGB, FGG
98.9FGA, FGB, FGG
108.9FGA, FGB, FGG
11
Show member pathways
8.9FGA, FGB, FGG
12
Show member pathways
8.1CFI, FGA, FGB, FGG

GO Terms for genes affiliated with Afibrinogenemia

About this section

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1extracellular vesicleGO:19035619.9FGA, FGB
2fibrinogen complexGO:00055779.6FGA, FGB, FGG
3platelet alpha granuleGO:00310919.6FGA, FGB, FGG
4platelet alpha granule lumenGO:00310939.5FGA, FGB, FGG
5external side of plasma membraneGO:00098979.4FGA, FGB, FGG
6blood microparticleGO:00725629.2FGA, FGB, FGG
7cell surfaceGO:00099869.0FGA, FGB, FGG
8cell cortexGO:00059388.9FGA, FGB, FGG
9extracellular regionGO:00055768.1CFI, FGA, FGB, FGG
10extracellular spaceGO:00056158.0CFI, FGA, FGB, FGG
11extracellular exosomeGO:00700627.2CFI, FGA, FGB, FGG, SRSF1

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1liver regenerationGO:009742110.0FGA, SRSF1
2adaptive immune responseGO:00022509.9FGA, FGB
3induction of bacterial agglutinationGO:00431529.8FGA, FGB
4blood coagulation, fibrin clot formationGO:00723789.6FGA, FGB, FGG
5positive regulation of peptide hormone secretionGO:00902779.5FGA, FGB, FGG
6negative regulation of endothelial cell apoptotic processGO:20003529.5FGA, FGB, FGG
7positive regulation of heterotypic cell-cell adhesionGO:00341169.5FGA, FGB, FGG
8protein polymerizationGO:00512589.5FGA, FGB, FGG
9positive regulation of exocytosisGO:00459219.4FGA, FGB, FGG
10fibrinolysisGO:00427309.4FGA, FGB, FGG
11platelet aggregationGO:00705279.4FGA, FGB, FGG
12platelet degranulationGO:00025769.4FGA, FGB, FGG
13response to calcium ionGO:00515929.4FGA, FGB, FGG
14negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:19020429.4FGA, FGB, FGG
15positive regulation of vasoconstrictionGO:00459079.4FGA, FGB, FGG
16cell-matrix adhesionGO:00071609.3FGA, FGB, FGG
17plasminogen activationGO:00316399.2FGA, FGB, FGG
18cellular protein complex assemblyGO:00436239.1FGA, FGB, FGG
19extracellular matrix organizationGO:00301989.1FGA, FGB, FGG
20positive regulation of protein secretionGO:00507149.0FGA, FGB, FGG
21innate immune responseGO:00450879.0CFI, FGA, FGB
22positive regulation of ERK1 and ERK2 cascadeGO:00703748.9FGA, FGB, FGG
23blood coagulationGO:00075968.8FGA, FGB, FGG
24positive regulation of substrate adhesion-dependent cell spreadingGO:19000268.6FGA, FGB, FGG

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

idNameGO IDScoreTop Affiliating Genes
1protein binding, bridgingGO:00306749.1FGA, FGB, FGG
2structural molecule activityGO:00051989.1FGA, FGB, FGG
3receptor bindingGO:00051028.9FGA, FGB, FGG
4cell adhesion molecule bindingGO:00508398.6FGA, FGB, FGG

Sources for Afibrinogenemia

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet