MCID: AFB002
MIFTS: 46

Afibrinogenemia, Congenital malady

Genetic diseases, Blood diseases, Rare diseases categories

Aliases & Classifications for Afibrinogenemia, Congenital

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 34MedGen
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Aliases & Descriptions for Afibrinogenemia, Congenital:

Name: Afibrinogenemia, Congenital 49 11
Congenital Afibrinogenemia 10 23 47 12 67
Afibrinogenemia 23 65 36
Familial Afibrinogenemia 23 51
Hereditary Factor I Deficiency Disease 65
 
Complement Factor I Deficiency 65
Hypofibrinogenemia, Congenital 49
Fibrinogen Deficiency 10
Factor I Deficiency 10
Cafbn 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
familial afibrinogenemia:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

OMIM49 202400
Disease Ontology10 DOID:2236
NCIt42 C26692
MeSH36 D000347
Orphanet51 98880
ICD10 via Orphanet28 D68.2

Summaries for Afibrinogenemia, Congenital

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OMIM:49 Inherited disorders of fibrinogen affect either the quantity (afibrinogenemia and hypofibrinogenemia; 202400) or the... (202400) more...

MalaCards based summary: Afibrinogenemia, Congenital, also known as congenital afibrinogenemia, is related to complement factor i deficiency and blood protein disease, and has symptoms including abnormality of the menstrual cycle, gingival bleeding and epistaxis. An important gene associated with Afibrinogenemia, Congenital is FGG (Fibrinogen Gamma Chain), and among its related pathways are Cell adhesion_Plasmin signaling and Integrin cell surface interactions. Affiliated tissues include tongue, skin and liver, and related mouse phenotypes are cardiovascular system and hematopoietic system.

Genetics Home Reference:23 Congenital afibrinogenemia is a bleeding disorder caused by impairment of the blood clotting process. Normally, blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss. However, bleeding is uncontrolled in people with congenital afibrinogenemia. Newborns with this condition often experience prolonged bleeding from the umbilical cord stump after birth. Nosebleeds (epistaxis) and bleeding from the gums or tongue are common and can occur after minor trauma or in the absence of injury (spontaneous bleeding). Some affected individuals experience bleeding into the spaces between joints (hemarthrosis) or the muscles (hematoma). Rarely, bleeding in the brain or other internal organs occurs, which can be fatal. Women with congenital afibrinogenemia can have abnormally heavy menstrual bleeding (menorrhagia). Without proper treatment, women with this disorder may have difficulty carrying a pregnancy to term, resulting in repeated miscarriages.

UniProtKB/Swiss-Prot:67 Congenital afibrinogenemia: Rare autosomal recessive disorder is characterized by bleeding that varies from mild to severe and by complete absence or extremely low levels of plasma and platelet fibrinogen.

Related Diseases for Afibrinogenemia, Congenital

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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, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 146)
idRelated DiseaseScoreTop Affiliating Genes
1complement factor i deficiency31.2C3, CFI, CR1
2blood protein disease30.4F2, F3, VWF
3vascular hemostatic disease30.3F3, FGA, VWF
4dysfibrinogenemia, congenital30.3FGA, FGB, FGG
5systemic lupus erythematosus29.6C3, CR1, F2, F3
6myocardial infarction29.4F11, F2, F3, FGA, FGB, VWF
7insulin-like growth factor i10.7
8afibrinogenemia10.6
9fibrinogen deficiency, congenital10.5
10fga-related congenital afibrinogenemia10.3
11fgb-related congenital afibrinogenemia10.3
12fgg-related congenital afibrinogenemia10.3
13greenberg skeletal dysplasia10.3
14coagulation protein disease10.3
15blood coagulation disease10.3
16inherited blood coagulation disease10.3
17nutritional deficiency disease10.3
18factor v leiden thrombophilia10.3
19protein c deficiency10.3
20spinal cord infarction10.3
21growth retardation with deafness and mental retardation due to igf1 deficiency10.2
22prostatitis10.2
23autoimmune hemolytic anemia, warm type10.2C3, CFI
24hemolytic uremic syndrome, atypical 110.2C3, CFI
25pilocytic astrocytoma of cerebellum10.2CR1, FGB
26mucinous intrahepatic cholangiocarcinoma10.2C3, CR1
27fibrocartilaginous embolism10.2FGA, FGB, FGG
28hypoganglionosis10.2FGA, FGB, FGG
29complex regional pain syndrome10.2C3, CFI
30nasopalpebral lipoma - coloboma - telecanthus10.2FGA, FGB, FGG
31hidrocystoma10.2C3, CFI
32hemangioma10.2
33thrombocytopenia10.2
34giant hemangioma10.2
35glomerulonephritis10.2
36meningitis10.2
37vasculitis10.2
38acral dysostosis dyserythropoiesis syndrome10.2F11, VWF
39bacteremia10.1
40dubowitz syndrome10.1F11, VWF
41penis paget's disease10.1C3, CR1
42pulmonary valve agenesis - fallot's tetralogy - absence of ductus arteriosus10.1F2, VWF
43acute anterolateral myocardial infarction10.1C3, F3
44marfan syndrome10.1
45cerebral hemorrhage10.1
46corpus luteum cyst10.1
47hemopneumothorax10.1
48constrictive pericarditis10.1
49von willebrand's disease10.1
50cerebritis10.1

Graphical network of the top 20 diseases related to Afibrinogenemia, Congenital:



Diseases related to afibrinogenemia, congenital

Symptoms for Afibrinogenemia, Congenital

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Symptoms by clinical synopsis from OMIM:

202400

Clinical features from OMIM:

202400

Symptoms:

 51 (show all 8)
  • metrorrhagia/menorrhagia/hemorrhagic cycles/hyper/poly/spanio/dysmenorrhea
  • hydrarthrosis/articular/joint effusion
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • epistaxis/nose bleeding
  • gingivorrhagia/gingival bleeding
  • autosomal recessive inheritance
  • spontaneous abortions
  • intracranial/cerebral/meningeal hemorrhage

HPO human phenotypes related to Afibrinogenemia, Congenital:

(show all 10)
id Description Frequency HPO Source Accession
1 abnormality of the menstrual cycle hallmark (90%) HP:0000140
2 gingival bleeding hallmark (90%) HP:0000225
3 epistaxis hallmark (90%) HP:0000421
4 joint swelling hallmark (90%) HP:0001386
5 gastrointestinal hemorrhage hallmark (90%) HP:0002239
6 spontaneous abortion hallmark (90%) HP:0005268
7 intracranial hemorrhage occasional (7.5%) HP:0002170
8 autosomal recessive inheritance HP:0000007
9 hypofibrinogenemia HP:0011900
10 splenic rupture HP:0012223

Drugs & Therapeutics for Afibrinogenemia, Congenital

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Complement System ProteinsPhase 2171
2Complement Factor IPhase 236

Interventional clinical trials:

idNameStatusNCT IDPhase
1Human Fibrinogen Concentrate (FGTW) in Pediatric Patients With Congenital Fibrinogen DeficiencyCompletedNCT02094430Phase 2, Phase 3
2Efficacy and Safety Study of Octafibrin for On-demand Treatment of Acute Bleeding and to Prevent Bleeding During and After SurgeryRecruitingNCT02267226Phase 3
3Study to Assess the Efficacy, Safety and Pharmacokinetic of Octafibrin in Paediatric Subjects With Fibrinogen DeficiencyNot yet recruitingNCT02408484Phase 3
4Fibrinogen Concentrate (Human) − Efficacy and Safety StudyWithdrawnNCT00916656Phase 3
5Pharmacokinetic, Efficacy, and Safety Study of Octafibrin Compared to Haemocomplettan/RiastapCompletedNCT01575756Phase 2
6Human Fibrinogen - PharmacokineticsCompletedNCT00496262Phase 2
7Pharmacokinetic, Efficacy and Safety of BT524 in Patients With Congenital Fibrinogen DeficiencyActive, not recruitingNCT02065882Phase 1, Phase 2
8Pharmacokinetics, Efficacy, and Safety of Human Plasma-Derived Fibrinogen (FIB Grifols) in Patients With Congenital AfibrinogenaemiaNot yet recruitingNCT02281500Phase 1, Phase 2
9An 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, Congenital


Cochrane evidence based reviews: Afibrinogenemia

Genetic Tests for Afibrinogenemia, Congenital

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Anatomical Context for Afibrinogenemia, Congenital

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MalaCards organs/tissues related to Afibrinogenemia, Congenital:

33
Tongue, Skin, Liver, Brain, Spleen

Animal Models for Afibrinogenemia, Congenital or affiliated genes

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MGI Mouse Phenotypes related to Afibrinogenemia, Congenital:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.6C3, F11, F2, F3, FGA, FGG
2MP:00053977.5C3, F11, F2, F3, FGA, FGG
3MP:00053877.2C3, F11, F2, F3, FGA, FGG
4MP:00053766.2C3, CFI, F11, F2, F3, FGA

Publications for Afibrinogenemia, Congenital

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Variations for Afibrinogenemia, Congenital

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UniProtKB/Swiss-Prot genetic disease variations for Afibrinogenemia, Congenital:

67 (show all 13)
id Symbol AA change Variation ID SNP ID
1FGAp.Cys55ArgVAR_072721
2FGAp.Arg129ProVAR_072722
3FGAp.Cys184TrpVAR_072723
4FGBp.Arg196CysVAR_016908
5FGBp.Leu383ArgVAR_016909
6FGBp.Gly430AspVAR_016910
7FGBp.Leu202GlnVAR_072620
8FGBp.Cys95ArgVAR_072724
9FGBp.Thr407LysVAR_072725
10FGGp.Thr303ProVAR_072726
11FGGp.Asp327HisVAR_072727
12FGGp.Asn345AspVAR_072728
13FGGp.Arg401TrpVAR_072729

Clinvar genetic disease variations for Afibrinogenemia, Congenital:

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 variantPathogenicrs606231224GRCh38Chr 4, 154569800: 154569800
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_000508.3(FGA): c.510+1G> Tsingle nucleotide variantPathogenicrs146387238GRCh37Chr 4, 155508663: 155508663
12FGANM_000508.3(FGA): c.711dupT (p.Lys238Terfs)duplicationPathogenicrs606231225GRCh38Chr 4, 154586718: 154586718

Expression for genes affiliated with Afibrinogenemia, Congenital

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Search GEO for disease gene expression data for Afibrinogenemia, Congenital.

Pathways for genes affiliated with Afibrinogenemia, Congenital

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Pathways related to Afibrinogenemia, Congenital according to GeneCards Suite gene sharing:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6FGA, FGB, FGG
29.6FGA, FGB, FGG
39.5C3, CFI, FGG
4
Show member pathways
9.3C3, CFI, CR1
59.2FGA, FGB, FGG, VWF
69.2FGA, FGB, FGG, VWF
7
Show member pathways
9.0F2, FGA, FGB, FGG
88.6F2, FGA, FGB, FGG, VWF
9
Show member pathways
8.6F2, FGA, FGB, FGG, VWF
10
Show member pathways
8.5F3, FGA, FGB, FGG, VWF
11
Show member pathways
8.0C3, CFI, CR1, FGA, FGB, FGG
12
Show member pathways
7.9F11, F2, F3, FGA, FGB, FGG
13
Show member pathways
7.5F11, F2, F3, FGA, FGB, FGG
14
Show member pathways
7.5F11, F2, F3, FGA, FGB, FGG
15
Show member pathways
6.3C3, CFI, CR1, F11, F2, F3

GO Terms for genes affiliated with Afibrinogenemia, Congenital

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1fibrinogen complexGO:000557710.3FGA, FGB, FGG
2cell cortexGO:000593810.1FGA, FGB, FGG
3platelet alpha granuleGO:00310919.9FGA, FGB, FGG, VWF
4platelet alpha granule lumenGO:00310939.8FGA, FGB, FGG, VWF
5external side of plasma membraneGO:00098979.7FGA, FGB, FGG, VWF
6blood microparticleGO:00725629.3C3, F2, FGA, FGB, FGG
7extracellular matrixGO:00310129.2F2, F3, VWF
8cell surfaceGO:00099868.5CR1, F3, FGA, FGB, FGG
9extracellular regionGO:00055767.3C3, CFI, F11, F2, FGA, FGB
10plasma membraneGO:00058867.2C3, CR1, F11, F2, F3, FGA
11extracellular spaceGO:00056156.9C3, CFI, F11, F2, F3, FGA
12extracellular exosomeGO:00700626.3C3, CFI, CR1, F11, F2, F3

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

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1induction of bacterial agglutinationGO:004315210.5FGA, FGB
2blood coagulation, fibrin clot formationGO:007237810.2FGA, FGB, FGG
3positive regulation of peptide hormone secretionGO:009027710.2FGA, FGB, FGG
4negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:190204210.2FGA, FGB, FGG
5negative regulation of endothelial cell apoptotic processGO:200035210.2FGA, FGB, FGG
6platelet aggregationGO:007052710.2FGA, FGB, FGG
7positive regulation of protein secretionGO:005071410.2FGA, FGB, FGG
8positive regulation of exocytosisGO:004592110.2FGA, FGB, FGG
9acute-phase responseGO:000695310.2F2, FGA
10positive regulation of heterotypic cell-cell adhesionGO:003411610.2FGA, FGB, FGG
11response to calcium ionGO:005159210.1FGA, FGB, FGG
12positive regulation of substrate adhesion-dependent cell spreadingGO:190002610.1FGA, FGB, FGG
13protein polymerizationGO:005125810.1FGA, FGB, FGG
14positive regulation of vasoconstrictionGO:004590710.0FGA, FGB, FGG
15regulation of blood coagulationGO:00301939.9F11, F2
16cell-matrix adhesionGO:00071609.9FGA, FGB, FGG
17regulation of complement activationGO:00304499.8C3, CFI, CR1
18complement activation, classical pathwayGO:00069589.8C3, CFI, CR1
19platelet degranulationGO:00025769.7FGA, FGB, FGG, VWF
20fibrinolysisGO:00427309.7F2, FGA, FGB, FGG
21blood coagulation, intrinsic pathwayGO:00075979.6F11, F2, VWF
22positive regulation of ERK1 and ERK2 cascadeGO:00703749.6C3, FGA, FGB, FGG
23cellular protein complex assemblyGO:00436239.6FGA, FGB, FGG
24response to estradiolGO:00323559.5C3, F3, FGA
25response to woundingGO:00096119.5F2, F3, VWF
26plasminogen activationGO:00316399.5F11, FGA, FGB, FGG
27innate immune responseGO:00450878.9C3, CFI, CR1, FGA, FGB
28extracellular matrix organizationGO:00301988.9FGA, FGB, FGG, VWF
29platelet activationGO:00301688.5F2, FGA, FGB, FGG, VWF
30blood coagulationGO:00075967.2C3, F11, F2, F3, FGA, FGB

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

idNameGO IDScoreTop Affiliating Genes
1cell adhesion molecule bindingGO:005083910.0FGA, FGB, FGG
2structural molecule activityGO:00051989.8FGA, FGB, FGG
3serine-type endopeptidase activityGO:00042529.4CFI, F11, F2
4protein binding, bridgingGO:00306749.3FGA, FGB, FGG
5receptor bindingGO:00051028.7C3, F2, FGA, FGB, FGG

Sources for Afibrinogenemia, Congenital

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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