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 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 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 placenta, heart 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 151)
idRelated DiseaseScoreTop Affiliating Genes
1myocardial infarction26.1F10, F11, F2, F3, F5, F8
2afibrinogenemia, congenital12.3
3fga-related congenital afibrinogenemia11.7
4fgb-related congenital afibrinogenemia11.7
5fgg-related congenital afibrinogenemia11.7
6dysfibrinogenemia, congenital10.9
7catsper1-related nonsyndromic male infertility10.6C3, CFP
8amyloidosis, familial visceral10.5FGA, FGB, FGG
9cerebral arterial disease10.5CR1, FGB
10complement factor h deficiency10.5CD46, CFI
11upper gum cancer10.5C3, F2
12macular degeneration, age-related, 910.4C3, CD46
13ancylostomiasis10.4CR1, F8
14glassy cell variant cervical adenosquamous carcinoma10.4C3, CFI, CFP
15diabetic autonomic neuropathy10.4F2, F8
16tyrobp-related polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy10.4F8, VWF
17prostatic hypertrophy10.4F11, F8
18tyrosine hydroxylase-deficient dopa-responsive dystonia10.4F8, VWF
19achalasia10.4CD46, CR1
20inflammatory breast carcinoma10.4C3, CFP
21familial spastic paralysis10.4F8, VWF
22type 2n von willebrand disease10.4F8, VWF
23familial glomangioma10.3F2, F3
24malignant type ab thymoma10.3F8, VWF
25ariboflavinosis10.3F2, F3
26cavernous hemangioma of face10.3F2, F3
27ovarian gonadoblastoma10.3F2, F3
28cerebral angioma10.3F2, F3
29brill-zinsser disease10.3F2, F3
30shwachman-diamond type metaphyseal dysplasia10.3C3, F3
31central epithelioid sarcoma10.3F2, VWF
32epididymo-orchitis10.3F2, F3
33chorea gravidarum10.3F2, F3
34granuloma annulare10.3C3, CFI, CR1
35central nervous system germinoma10.3F2, F3
36congenital nystagmus10.3F2, F3
37dmd-related dilated cardiomyopathy10.3F2, F3
38lateral cystocele10.2F2, F3
39peroneal neuropathy10.2F2, F3
40penis papillary carcinoma10.2F10, F8
41pneumocystosis10.2C3, F11, F3
42splenic infarction10.2F2, F3
43allain-babin-demarquez syndrome10.2F11, F8, VWF
44lymphatic system cancer10.2F2, F3
45bernard-soulier syndrome, type c10.2F2, FGA, VWF
46pericholangitis10.1C3, F2
47acquired hypoprothrombinemia10.1C3, F5
48agammaglobulinemia x-linked type 210.1CFI, FGA, FGB, FGG, SRSF1
49cercarial dermatitis10.1F2, F3
50marek disease10.1F2, F3, F8

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:00053978.1C3, CFI, F11, F2, F3, F8
2MP:00053878.0C3, CFP, F11, F2, F3, F8
3MP:00053766.6C3, CFI, CFP, F10, F11, F2
4MP:00053856.3C3, CD46, CFP, F10, F11, F2
5MP:00107685.5C3, CFP, F10, F11, F2, F3

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 21359
2Complement Factor I35

Interventional clinical trials:

(show all 13)
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 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 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, Heart, Prostate, Liver, Uterus, Bone, Spinal cord

Publications for Afibrinogenemia

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Articles related to Afibrinogenemia:

(show top 50)    (show all 235)
idTitleAuthorsYear
1
Perioperative Coagulation Management in a Patient with Congenital Afibrinogenemia during Revision Total Hip Arthroplasty. (27472424)
2016
2
Congenital afibrinogenemia: Identification and characterization of two novel homozygous fibrinogen AI+ and BI^ chain mutations in two Tunisian families. (27164460)
2016
3
Congenital afibrinogenemia: from etiopathogenesis to challenging clinical management. (27291795)
2016
4
Fibrinogen Martin: A Novel Mutation in FGB (Gln180Stop) Causing Congenital Afibrinogenemia. (27148845)
2016
5
Post-authorization safety study of Clottafact(Ar) , a triply secured fibrinogen concentrate in congenital afibrinogenemia. A prospective observational study. (27583698)
2016
6
A Rare Complication Of Congenital Afibrinogenemia: Bone Cysts. (27094883)
2016
7
Severe Thrombotic Complications in Congenital Afibrinogenemia: A Pathophysiological and Management Dilemma. (27253088)
2016
8
A novel missense mutation in the FGB gene (p.Gly302Arg) leading to afibrinogenemia. Predicted structure and function consequences. (27824214)
2016
9
Congenital afibrinogenemia: a case report of a spontaneous hepatic hematoma. (27428204)
2016
10
Venous thrombosis in afibrinogenemia: a successful use of rivaroxaban. (26036982)
2015
11
Yes or no for secondary prophylaxis in afibrinogenemia? (26484644)
2015
12
Paradoxical bleeding and thrombosis in a patient with afibrinogenemia and fibrinogen mumbai mutation. (25873512)
2015
13
Thrombosis of abdominal aorta in congenital afibrinogenemia: case report and review of literature. (25421938)
2015
14
Novel Fibrinogen Bbeta Chain Mutation as an Underlying Mechanism of Afibrinogenemia? (26485721)
2015
15
Resolution of fibrinogen deficiency in a patient with congenital afibrinogenemia after liver transplantation. (26421965)
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
Spontaneous epidural and subdural hematoma in a child with afibrinogenemia and postoperative management. (24509337)
2014
19
Targeted mutation of zebrafish fga models human congenital afibrinogenemia. (24553182)
2014
20
A case of congenital afibrinogenemia complicated with thromboembolic events that required repeated amputations. (25255238)
2014
21
Congenital afibrinogenemia in a new born: a rare cause for bleeding. (24509333)
2014
22
Recurrent myocardial infarction in a case of congenital afibrinogenemia. (24949183)
2014
23
Treatment of afibrinogenemia in a chihuahua. (23148136)
2013
24
Pulmonary embolism in a patient with congenital afibrinogenemia. (23855372)
2013
25
Novel homozygous fibrinogen AI+ chain truncation causes severe afibrinogenemia with life threatening complications in a two-year-old boy. (24050829)
2013
26
Percutaneous coronary intervention in a case of afibrinogenemia. (24570509)
2013
27
Successful ABO-incompatible kidney transplantation in patient with congenital afibrinogenemia. (22624802)
2012
28
Diagnosis and non-surgical periodontal management in congenital afibrinogenemia: report of a rare case. (22323341)
2012
29
Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia. (22732251)
2012
30
Successive bleeding and thrombotic complications in a patient with afibrinogenemia: a case report. (21496887)
2011
31
Thrombotic and hemorrhagic presentation of congenital hypo/afibrinogenemia. (20870369)
2011
32
Anaesthetic management of a child with congenital afibrinogenemia - A rare inherited coagulation disorder. (22223906)
2011
33
A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family. (21245743)
2011
34
Chronic subdural hematoma in a patient with congenital afibrinogenemia successfully treated with fibrinogen replacement. (22123482)
2011
35
Cellulitis on face in a patient with congenital afibrinogenemia. (21521918)
2011
36
Recurrent massive hemoperitoneum due to ovulation as a clinical sign in congenital afibrinogenemia. (21241266)
2011
37
Is primary prophylaxis required in afibrinogenemia? (20598104)
2010
38
Identification and functional characterization of a novel nonsense mutation in FGA accounting for congenital afibrinogenemia in six Egyptian patients. (20051841)
2010
39
Congenital Afibrinogenemia presenting as antenatal intracranial bleed: a case report. (20180944)
2010
40
Spontaneous intracranial bleeding in a neonate with congenital afibrinogenemia. (20445442)
2010
41
Severe elbow arthropathy in a patient with congenital afibrinogenemia: a case report. (20124074)
2010
42
A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream. (19417632)
2009
43
Severe spontaneous arterial thrombotic manifestations in patients with inherited hypo- and afibrinogenemia. (19335753)
2009
44
Spinal cord infarction in congenital afibrinogenemia: a case report and review of the literature. (19560685)
2009
45
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
46
Spontaneous extra-axial intracranial hemorrhage followed by thrombosis in congenital afibrinogenemia: perioperative management of this rare combination. (18295846)
2009
47
Genetic analysis of an inherited afibrinogenemia family caused by a novel frameshift mutation in FGA]. (19698251)
2009
48
Bilateral leukocoria in infant with afibrinogenemia. (19668740)
2008
49
Interstitial pregnancy in a woman with congenital afibrinogenemia. (18834350)
2008
50
Treatment of congenital afibrinogenemia in a premature neonate. (18559953)
2008

Variations for Afibrinogenemia

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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> ASNVPathogenicrs587776837GRCh38Chr 4, 154612527: 154612527
2FGGNM_021870.2(FGG): c.307+5G> ASNVPathogenicrs587776838GRCh37Chr 4, 155533165: 155533165
3FGGNM_021870.2(FGG): c.667-320A> TSNVPathogenicrs587776839GRCh38Chr 4, 154608970: 154608970
4FGBNM_005141.4(FGB): c.1148T> G (p.Leu383Arg)SNVPathogenicrs121909621GRCh37Chr 4, 155490855: 155490855
5FGBNM_005141.4(FGB): c.1289G> A (p.Gly430Asp)SNVPathogenicrs121909622GRCh37Chr 4, 155491615: 155491615
6FGBNM_005141.4(FGB): c.958+13C> TSNVPathogenicrs606231223GRCh38Chr 4, 154569320: 154569320
7FGBNM_005141.4(FGB): c.1244+1G> TSNVPathogenicrs606231224GRCh38Chr 4, 154569800: 154569800
8FGBNM_005141.4(FGB): c.605T> A (p.Leu202Gln)SNVPathogenicrs121909624GRCh37Chr 4, 155488859: 155488859
9FGBNM_005141.4(FGB): c.139C> T (p.Arg47Ter)SNVPathogenicrs121909625GRCh37Chr 4, 155486984: 155486984
10FGANC_000004.12deletionPathogenicGRCh38Chr 4, 154580323: 154590216
11FGANM_000508.4(FGA): c.510+1G> TSNVPathogenicrs146387238GRCh37Chr 4, 155508663: 155508663
12FGANM_000508.4(FGA): c.711dupT (p.Lys238Terfs)duplicationPathogenicrs606231225GRCh38Chr 4, 154586718: 154586718

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
9.4F2, FGA, FGB, FGG
59.3FGA, FGB, FGG, VWF
69.3FGA, FGB, FGG, VWF
7
Show member pathways
9.3FGA, FGB, FGG, VWF
8
Show member pathways
9.2C3, CD46, CFI, CR1
9
Show member pathways
9.0F2, FGA, FGB, FGG, VWF
109.0F2, FGA, FGB, FGG, VWF
11
Show member pathways
8.9C3, CD46, CFI, CFP, CR1
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
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 15)
idNameGO IDScoreTop Affiliating Genes
1cell cortexGO:000593810.6FGA, FGB, FGG
2fibrinogen complexGO:000557710.6FGA, FGB, FGG
3ER to Golgi transport vesicleGO:003013410.4F5, F8
4extracellular vesicleGO:190356110.2F5, FGA, FGB
5blood microparticleGO:007256210.0C3, F2, FGA, FGB, FGG
6intrinsic component of external side of plasma membraneGO:00312339.9F10, F3
7extracellular matrixGO:00310129.4CFP, F2, F3, VWF
8endoplasmic reticulum lumenGO:00057889.2CFP, F10, F2, F5, F8
9platelet alpha granuleGO:00310919.2F5, FGA, FGB, FGG, VWF
10cell surfaceGO:00099869.0CD46, CR1, F3, FGA, FGB, FGG
11platelet alpha granule lumenGO:00310938.4F5, F8, FGA, FGB, FGG, VWF
12extracellular spaceGO:00056157.4C3, CFI, CFP, F11, F2, F3
13extracellular regionGO:00055767.2C3, CFI, CFP, F10, F11, F2
14extracellular exosomeGO:00700626.9C3, CD46, CFI, CR1, F11, F2
15plasma membraneGO:00058866.3C3, CD46, CR1, F10, F11, F2

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

(show all 35)
idNameGO IDScoreTop Affiliating Genes
1induction of bacterial agglutinationGO:004315210.7FGA, FGB
2complement activation, alternative pathwayGO:000695710.6C3, CFP
3blood coagulation, fibrin clot formationGO:007237810.5FGA, FGB, FGG
4cell-matrix adhesionGO:000716010.5FGA, FGB, FGG
5cellular protein complex assemblyGO:004362310.5FGA, FGB, FGG
6negative regulation of endothelial cell apoptotic processGO:200035210.5FGA, FGB, FGG
7negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:190204210.5FGA, FGB, FGG
8platelet aggregationGO:007052710.5FGA, FGB, FGG
9regulation of blood coagulationGO:003019310.5F11, F2
10positive regulation of exocytosisGO:004592110.4FGA, FGB, FGG
11positive regulation of heterotypic cell-cell adhesionGO:003411610.4FGA, FGB, FGG
12positive regulation of peptide hormone secretionGO:009027710.4FGA, FGB, FGG
13positive regulation of protein secretionGO:005071410.4FGA, FGB, FGG
14positive regulation of substrate adhesion-dependent cell spreadingGO:190002610.4FGA, FGB, FGG
15positive regulation of vasoconstrictionGO:004590710.4FGA, FGB, FGG
16protein polymerizationGO:005125810.4FGA, FGB, FGG
17adaptive immune responseGO:000225010.4CD46, FGA, FGB
18acute-phase responseGO:000695310.3F2, F8, FGA
19response to calcium ionGO:005159210.3FGA, FGB, FGG
20peptidyl-glutamic acid carboxylationGO:001718710.3F10, F2
21plasminogen activationGO:003163910.2F11, FGA, FGB, FGG
22fibrinolysisGO:004273010.2F2, FGA, FGB, FGG
23positive regulation of ERK1 and ERK2 cascadeGO:007037410.1C3, FGA, FGB, FGG
24extracellular matrix organizationGO:003019810.0FGA, FGB, FGG, VWF
25complement activation, classical pathwayGO:00069589.9C3, CD46, CFI, CR1
26blood coagulation, extrinsic pathwayGO:00075989.9F10, F3
27innate immune responseGO:00450879.7CD46, CFI, CR1, FGA, FGB
28signal peptide processingGO:00064659.6F10, F2
29response to estradiolGO:00323559.5C3, F3, FGA
30regulation of complement activationGO:00304499.4C3, CD46, CFI, CFP, CR1
31platelet activationGO:00301689.4F2, F5, F8, VWF
32ER to Golgi vesicle-mediated transportGO:00068889.4F10, F2, F5, F8
33blood coagulation, intrinsic pathwayGO:00075979.3F10, F11, F2, F8, VWF
34platelet degranulationGO:00025769.0F5, F8, FGA, FGB, FGG, VWF
35blood coagulationGO:00075966.9C3, F10, F11, F2, F3, F5

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

idNameGO IDScoreTop Affiliating Genes
1cell adhesion molecule bindingGO:005083910.5FGA, FGB, FGG
2protein binding, bridgingGO:003067410.5FGA, FGB, FGG
3receptor bindingGO:00051029.8C3, F2, FGA, FGB, FGG
4serine-type endopeptidase activityGO:00042527.0C3, CFI, F10, F11, F2, F3

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