MCID: AFB002
MIFTS: 51

Afibrinogenemia, Congenital malady

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Afibrinogenemia, Congenital

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Aliases & Descriptions for Afibrinogenemia, Congenital:

Name: Afibrinogenemia, Congenital 50 12
Congenital Afibrinogenemia 11 24 13 68 48
Afibrinogenemia 24 37 66
Familial Afibrinogenemia 24 52
Afibrinogenemia, Congenital Hypofibrinogenemia, Congenital, Included 50
Complement Factor I Deficiency 66
Hypofibrinogenemia, Congenital 50
 
Congenital Hypofibrinogenemia 66
Familial Hypofibrinogenemia 52
Afibrinogenemia Congenital 25
Fibrinogen Deficiency 11
Factor I Deficiency 11
Hypofibrinogenemia 66
Cafbn 68

Characteristics:

Orphanet epidemiological data:

52
familial afibrinogenemia:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal
familial hypofibrinogenemia:
Inheritance: Autosomal dominant; Age of onset: All ages

HPO:

62
afibrinogenemia, congenital:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 202400
Disease Ontology11 DOID:2236
ICD1028 D68.2
MeSH37 D000347
ICD10 via Orphanet29 D68.2

Summaries for Afibrinogenemia, Congenital

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OMIM:50 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 fibrinogen deficiency, congenital, 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 Immune response Lectin induced complement pathway and Creation of C4 and C2 activators. Affiliated tissues include tongue, skin and liver, and related mouse phenotypes are digestive/alimentary and reproductive system.

Genetics Home Reference:24 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:68 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 100)
idRelated DiseaseScoreTop Affiliating Genes
1complement factor i deficiency12.4
2fibrinogen deficiency, congenital12.1
3fga-related congenital afibrinogenemia12.0
4fgb-related congenital afibrinogenemia12.0
5fgg-related congenital afibrinogenemia12.0
6insulin-like growth factor i11.6
7afibrinogenemia11.4
8growth retardation with deafness and mental retardation due to igf1 deficiency11.3
9glassy cell variant cervical adenosquamous carcinoma10.5C3, CFI
10chronic diarrhea due to guanylate cyclase 2c overactivity10.4FGA, VWF
11cerebral arterial disease10.4CR1, FGB
12cicatricial lagophthalmos10.4C3, PLG
13amyloidosis, familial visceral10.4FGA, FGB, FGG
14congenital ectodermal dysplasia with hearing loss10.4FGA, FGB, FGG
15shwachman-diamond type metaphyseal dysplasia10.3C3, PLG
16pneumocystosis10.3C3, PLG
17anti-basement membrane glomerulonephritis10.3C3, CR1
18langerhans-cell histiocytosis10.2C3, CFI
19fiedler's myocarditis10.2CFI, VWF
20tyrobp-related polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy10.2F8, VWF
21tyrosine hydroxylase-deficient dopa-responsive dystonia10.2F8, VWF
22secondary central precocious puberty10.2F8, VWF
23familial spastic paralysis10.2F8, VWF
24type 2n von willebrand disease10.2F8, VWF
25allain-babin-demarquez syndrome10.2F8, VWF
26malignant type ab thymoma10.2F8, VWF
27ancylostomiasis10.1CR1, F8
28leydig cell tumor10.1F8, VWF
29duane retraction syndrome10.1C3, CFI, VWF
30otopalatodigital syndrome, type i10.1F8, VWF
31upper gum cancer10.1C3, F2
32hemolytic uremic syndrome, atypical 310.0C3, CFI, CR1
33pericholangitis10.0C3, F2
34granuloma annulare10.0C3, CFI, CR1
35dislocation of ear ossicle10.0F2, VWF
36tollner horst manzke syndrome10.0F8, PLG
37central epithelioid sarcoma10.0F2, VWF
38agammaglobulinemia x-linked type 210.0CFI, FGA, FGB, FGG
39pemphigus foliaceus10.0C3, CR1
40ariboflavinosis10.0F2, PLG
41cavernous hemangioma of face9.9F2, PLG
42thyroid hyalinizing trabecular adenoma9.9F2, PLG
43complement factor h deficiency9.9
44lateral cystocele9.9F2, PLG
45psychologic dyspareunia9.9F2, VWF
46methotrexate-associated lymphoproliferation9.9C3, CR1
47psychosexual disorder9.8F2, VWF
48marek disease9.8F2, F8
49marfan syndrome9.8
50intracranial arteriosclerosis9.8F2, PLG

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:

 52 (show all 8)
  • gingival bleeding
  • epistaxis
  • cerebral hemorrhage
  • joint swelling
  • abnormal bleeding
  • spontaneous abortion
  • menometrorrhagia
  • gastrointestinal hemorrhage

HPO human phenotypes related to Afibrinogenemia, Congenital:

(show all 9)
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 hypofibrinogenemia HP:0011900
9 splenic rupture HP:0012223

Drugs & Therapeutics for Afibrinogenemia, Congenital

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Human Fibrinogen Concentrate in Pediatric Cardiac SurgeryNot yet recruitingNCT02822599Phase 4
2Human Fibrinogen Concentrate (FGTW) in Pediatric Patients With Congenital Fibrinogen DeficiencyCompletedNCT02094430Phase 2, Phase 3
3Pharmacokinetic, Efficacy and Safety of BT524 in Patients With Congenital Fibrinogen DeficiencyRecruitingNCT02065882Phase 2, Phase 3
4Efficacy and Safety Study of Octafibrin for On-demand Treatment of Acute Bleeding and to Prevent Bleeding During and After SurgeryRecruitingNCT02267226Phase 3
5Study to Assess the Efficacy, Safety and Pharmacokinetic of Octafibrin in Paediatric Subjects With Fibrinogen DeficiencyRecruitingNCT02408484Phase 3
6Fibrinogen Concentrate (Human) − Efficacy and Safety StudyWithdrawnNCT00916656Phase 3
7Pharmacokinetic, Efficacy, and Safety Study of Octafibrin Compared to Haemocomplettan/RiastapCompletedNCT01575756Phase 2
8Human Fibrinogen - PharmacokineticsCompletedNCT00496262Phase 2
9Pharmacokinetics, Efficacy, and Safety of Human Plasma-Derived Fibrinogen (FIB Grifols) in Patients With Congenital AfibrinogenaemiaRecruitingNCT02281500Phase 1, Phase 2
10An 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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Genetic tests related to Afibrinogenemia, Congenital:

id Genetic test Affiliating Genes
1 Afibrinogenemia, Congenital25

Anatomical Context for Afibrinogenemia, Congenital

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MalaCards organs/tissues related to Afibrinogenemia, Congenital:

34
Tongue, Skin, Liver, Brain, Spleen

Animal Models for Afibrinogenemia, Congenital or affiliated genes

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MGI Mouse Phenotypes related to Afibrinogenemia, Congenital:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.0C3, F2, FGA, PLG, VWF
2MP:00053897.7C3, F2, F8, FGA, FGG, PLG
3MP:00053857.4C3, F2, FGA, FGG, PLG, VWF
4MP:00053877.3C3, F2, F8, FGA, FGG, PLG
5MP:00053976.8C3, CFI, F2, F8, FGA, FGG
6MP:00053766.6C3, CFI, F2, F8, FGA, FGG

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:

68 (show all 13)
id Symbol AA change Variation ID SNP ID
1FGAp.Cys55ArgVAR_072721
2FGAp.Arg129ProVAR_072722
3FGAp.Cys184TrpVAR_072723
4FGBp.Arg196CysVAR_016908rs121909623
5FGBp.Leu383ArgVAR_016909rs121909621
6FGBp.Gly430AspVAR_016910rs121909622
7FGBp.Leu202GlnVAR_072620rs121909624
8FGBp.Cys95ArgVAR_072724
9FGBp.Thr407LysVAR_072725
10FGGp.Thr303ProVAR_072726
11FGGp.Asp327HisVAR_072727
12FGGp.Asn345AspVAR_072728
13FGGp.Arg401TrpVAR_072729rs75848804

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 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, 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 18)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.2C3, CFI, CR1
2
Show member pathways
9.2C3, CFI, CR1
39.1F2, PLG
49.1F2, PLG
5
Show member pathways
9.1FGA, FGB, FGG, VWF
69.1FGA, FGB, FGG, VWF
79.1FGA, FGB, FGG, VWF
89.0FGA, FGB, FGG, PLG
9
Show member pathways
9.0FGA, FGB, FGG, PLG
108.9C3, CFI, FGG, PLG
11
Show member pathways
8.7F2, FGA, FGB, FGG
12
Show member pathways
8.2F2, FGA, FGB, FGG, VWF
138.2F2, FGA, FGB, FGG, VWF
14
Show member pathways
8.1F2, F8, FGA, FGB, FGG
15
Show member pathways
7.7C3, CFI, CR1, FGA, FGB, FGG
16
Show member pathways
7.1F2, F8, FGA, FGB, FGG, PLG
17
Show member pathways
7.1F2, F8, FGA, FGB, FGG, PLG
18
Show member pathways
5.8C3, CFI, CR1, F2, F8, FGA

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
1extracellular vesicleGO:190356110.3FGA, FGB
2fibrinogen complexGO:000557710.3FGA, FGB, FGG
3external side of plasma membraneGO:000989710.0FGA, FGB, FGG
4platelet alpha granuleGO:00310919.8FGA, FGB, FGG, VWF
5cell cortexGO:00059389.2FGA, FGB, FGG
6cell surfaceGO:00099868.7CR1, FGA, FGB, FGG, PLG
7platelet alpha granule lumenGO:00310938.6F8, FGA, FGB, FGG, PLG, VWF
8blood microparticleGO:00725628.1C3, F2, FGA, FGB, FGG, PLG
9extracellular spaceGO:00056157.0C3, CFI, F2, F8, FGA, FGB
10plasma membraneGO:00058866.6C3, CR1, F2, F8, FGA, FGB
11extracellular regionGO:00055766.5C3, CFI, F2, F8, FGA, FGB
12extracellular exosomeGO:00700626.5C3, CFI, CR1, F2, FGA, FGB

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

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1blood coagulation, fibrin clot formationGO:007237810.2FGA, FGB, FGG
2induction of bacterial agglutinationGO:004315210.2FGA, FGB
3positive regulation of peptide hormone secretionGO:009027710.2FGA, FGB, FGG
4negative regulation of endothelial cell apoptotic processGO:200035210.2FGA, FGB, FGG
5positive regulation of heterotypic cell-cell adhesionGO:003411610.1FGA, FGB, FGG
6protein polymerizationGO:005125810.1FGA, FGB, FGG
7positive regulation of exocytosisGO:004592110.1FGA, FGB, FGG
8platelet aggregationGO:007052710.1FGA, FGB, FGG
9response to calcium ionGO:005159210.0FGA, FGB, FGG
10negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:190204210.0FGA, FGB, FGG
11positive regulation of vasoconstrictionGO:004590710.0FGA, FGB, FGG
12cell-matrix adhesionGO:000716010.0FGA, FGB, FGG
13plasminogen activationGO:003163910.0FGA, FGB, FGG
14cellular protein complex assemblyGO:00436239.9FGA, FGB, FGG
15positive regulation of protein secretionGO:00507149.8FGA, FGB, FGG
16regulation of complement activationGO:00304499.7C3, CFI, CR1
17complement activation, classical pathwayGO:00069589.7C3, CFI, CR1
18negative regulation of fibrinolysisGO:00519189.7F2, PLG
19extracellular matrix organizationGO:00301989.4FGA, FGB, FGG, VWF
20innate immune responseGO:00450879.3CFI, CR1, FGA, FGB
21acute-phase responseGO:00069539.2F2, F8, FGA
22blood coagulation, intrinsic pathwayGO:00075979.2F2, F8, VWF
23positive regulation of substrate adhesion-dependent cell spreadingGO:19000269.2FGA, FGB, FGG
24cellular protein metabolic processGO:00442679.2F2, FGA, PLG
25positive regulation of ERK1 and ERK2 cascadeGO:00703749.1C3, FGA, FGB, FGG
26platelet activationGO:00301689.0F2, F8, VWF
27fibrinolysisGO:00427308.7F2, FGA, FGB, FGG, PLG
28platelet degranulationGO:00025768.4F8, FGA, FGB, FGG, PLG, VWF
29proteolysisGO:00065088.3C3, CFI, F2, PLG
30blood coagulationGO:00075966.6C3, F2, F8, FGA, FGB, FGG

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

idNameGO IDScoreTop Affiliating Genes
1protein binding, bridgingGO:00306749.8FGA, FGB, FGG
2structural molecule activityGO:00051989.7FGA, FGB, FGG
3cell adhesion molecule bindingGO:00508399.2FGA, FGB, FGG
4receptor bindingGO:00051027.8C3, F2, FGA, FGB, FGG, PLG
5serine-type endopeptidase activityGO:00042527.6C3, CFI, F2, F8, PLG

Sources for Afibrinogenemia, Congenital

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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