MCID: AFB002
MIFTS: 54

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 52 12
Congenital Afibrinogenemia 11 25 70 50 13
Afibrinogenemia 25 39 68
Familial Afibrinogenemia 25 54
Afibrinogenemia, Congenital Hypofibrinogenemia, Congenital, Included 52
Complement Factor I Deficiency 68
Hypofibrinogenemia, Congenital 52
 
Congenital Hypofibrinogenemia 68
Familial Hypofibrinogenemia 54
Afibrinogenemia Congenital 27
Fibrinogen Deficiency 11
Factor I Deficiency 11
Hypofibrinogenemia 68
Cafbn 70

Characteristics:

Orphanet epidemiological data:

54
familial afibrinogenemia:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal
familial hypofibrinogenemia:
Inheritance: Autosomal dominant; Age of onset: All ages

HPO:

64
afibrinogenemia, congenital:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 202400
Disease Ontology11 DOID:2236
ICD1030 D68.2
MeSH39 D000347
ICD10 via Orphanet31 D68.2

Summaries for Afibrinogenemia, Congenital

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OMIM:52 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 FGA (Fibrinogen Alpha Chain), and among its related pathways are Dissolution of Fibrin Clot and Development Angiotensin activation of ERK. Affiliated tissues include tongue, skin and liver, and related mouse phenotypes are embryo and reproductive system.

UniProtKB/Swiss-Prot:70 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.

Genetics Home Reference:25 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.

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 150)
idRelated DiseaseScoreTop Affiliating Genes
1complement factor i deficiency12.4
2fibrinogen deficiency, congenital12.0
3fga-related congenital afibrinogenemia11.8
4fgb-related congenital afibrinogenemia11.8
5fgg-related congenital afibrinogenemia11.8
6growth retardation with deafness and mental retardation due to igf1 deficiency11.5
7insulin-like growth factor i11.5
8afibrinogenemia11.3
9complement factor h deficiency10.8
10subcortical arteriosclerotic encephalopathy10.5F2, SERPINC1
11thyroid hyalinizing trabecular adenoma10.5F2, SERPINC1
12collagenous colitis10.5F2, SERPINC1
13hypertensive heart disease10.5F2, SERPINC1
14familial glomangioma10.5F2, F3
15spleen cancer10.5F2, SERPINC1
16thrombophilia due to thrombin defect10.5F2, SERPINC1
17cerebral angioma10.5F2, F3
18classic congenital lipoid adrenal hyperplasia due to star deficency10.5F2, F3
19brill-zinsser disease10.5F2, F3
20epididymo-orchitis10.5F2, F3
21cavernous sinus thrombosis10.4F3, SERPINC1
22hepatic fibrosis renal cysts mental retardation10.4F3, SERPINC1
23chorea gravidarum10.4F2, F3
24central nervous system germinoma10.4F2, F3
25posterolateral myocardial infarction10.4F2, SERPINC1
26congenital nystagmus10.4F2, F3
27may-hegglin anomaly10.4F2, SERPINC1
28peroneal neuropathy10.4F2, F3
29left-right axis malformations10.4F2, SERPINC1
30central epithelioid sarcoma10.4F2, VWF
31polyhydramnios10.4F2, SERPINC1
32histoplasmosis10.4F2, SERPINC1
33budd-chiari syndrome10.4F2, SERPINC1
34splenic infarction10.4F2, F3
35facioscapulohumeral muscular dystrophy 110.4F2, F3
36amyloidosis, familial visceral10.4FGA, FGB, FGG
37congenital ectodermal dysplasia with hearing loss10.4FGA, FGB, FGG
38tympanosclerosis10.4F2, VWF
39thrombophilia10.4F2, SERPINC1
40cercarial dermatitis10.4F2, F3
41upper gum cancer10.3C3, F2
42selective iga deficiency disease10.3F2, SERPINC1
43laubry-pezzi syndrome10.3SERPINC1, SERPINF2
44collagenous gastritis10.3SERPINC1, SERPINF2
45anterior foramen magnum meningioma10.3F2, SERPINC1
46anterior cerebral artery infarction10.3FGB, PLAT
47idiopathic central precocious puberty10.3F2, F3
48angioedema, hereditary, type iii10.3F3, SERPINC1
49coronary restenosis10.3F3, SERPINC1
50artery disease10.3F2, F3

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



Diseases related to afibrinogenemia, congenital

Symptoms & Phenotypes for Afibrinogenemia, Congenital

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Symptoms by clinical synopsis from OMIM:

202400

Clinical features from OMIM:

202400

Human phenotypes related to Afibrinogenemia, Congenital:

 64 54 (show all 12)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the menstrual cycle64 hallmark (90%) HP:0000140
2 gingival bleeding64 54 hallmark (90%) Very frequent (99-80%) HP:0000225
3 epistaxis64 54 hallmark (90%) Very frequent (99-80%) HP:0000421
4 joint swelling64 54 hallmark (90%) Very frequent (99-80%) HP:0001386
5 gastrointestinal hemorrhage64 54 hallmark (90%) Very frequent (99-80%) HP:0002239
6 spontaneous abortion64 54 hallmark (90%) Very frequent (99-80%) HP:0005268
7 intracranial hemorrhage64 occasional (7.5%) HP:0002170
8 hypofibrinogenemia64 HP:0011900
9 splenic rupture64 HP:0012223
10 cerebral hemorrhage54 Occasional (29-5%)
11 abnormal bleeding54 Very frequent (99-80%)
12 menometrorrhagia54 Very frequent (99-80%)

MGI Mouse Phenotypes related to Afibrinogenemia, Congenital according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.1C3, F2, F3, FGA, FGG, SERPINC1
2MP:00053898.0C3, F2, FGA, FGG, PLAT, SERPINC1
3MP:00053858.0C3, F2, F3, FGA, FGG, PLAT
4MP:00053877.9C3, F2, F3, FGA, FGG, PLAT
5MP:00053977.2C3, CFI, F2, F3, FGA, FGG
6MP:00053766.6C3, CFI, F2, F3, FGA, FGG

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 Factor I35

Interventional clinical trials:

idNameStatusNCT IDPhase
1Human Fibrinogen Concentrate in Pediatric Cardiac SurgeryRecruitingNCT02822599Phase 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 DeficiencyActive, not recruitingNCT02427217

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, Congenital27

Anatomical Context for Afibrinogenemia, Congenital

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MalaCards organs/tissues related to Afibrinogenemia, Congenital:

36
Tongue, Skin, Liver, Brain, Spleen

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:

70 (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 13)
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
13FGANM_000508.4(FGA): c.991A> G (p.Thr331Ala)SNVrisk factorrs6050GRCh37Chr 4, 155507590: 155507590

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 12)
idSuper pathwaysScoreTop Affiliating Genes
19.3PLAT, SERPINF2
2
Show member pathways
9.2F2, FGA, FGB, FGG
39.1FGA, FGB, FGG, VWF
49.1FGA, FGB, FGG, VWF
5
Show member pathways
9.1FGA, FGB, FGG, VWF
68.9FGA, FGB, FGG, PLAT
78.8C3, CFI, FGG
88.8F2, FGA, FGB, FGG, VWF
9
Show member pathways
8.8F2, FGA, FGB, FGG, VWF
10
Show member pathways
8.4F2, F3, FGA, FGB, FGG, SERPINC1
11
Show member pathways
6.8F2, F3, FGA, FGB, FGG, PLAT
12
Show member pathways
5.5C3, CFI, F2, F3, FGA, FGB

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 11)
idNameGO IDScoreTop Affiliating Genes
1cell cortexGO:000593810.4FGA, FGB, FGG
2external side of plasma membraneGO:000989710.4FGA, FGB, FGG
3platelet alpha granuleGO:00310919.6FGA, FGB, FGG, VWF
4fibrinogen complexGO:00055779.5FGA, FGB, FGG, SERPINF2
5extracellular matrixGO:00310129.4F2, F3, PLAT, VWF
6cell surfaceGO:00099868.8F3, FGA, FGB, FGG, PLAT, SERPINF2
7blood microparticleGO:00725628.6C3, F2, FGA, FGB, FGG, SERPINC1
8platelet alpha granule lumenGO:00310938.6FGA, FGB, FGG, SERPINF2, VWF
9extracellular regionGO:00055766.6C3, CFI, F2, FGA, FGB, FGG
10extracellular spaceGO:00056156.5C3, CFI, F2, F3, FGA, FGB
11extracellular exosomeGO:00700626.3C3, CFI, F2, F3, FGA, FGB

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

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1induction of bacterial agglutinationGO:004315210.6FGA, FGB
2blood coagulation, intrinsic pathwayGO:000759710.4F2, VWF
3negative regulation of fibrinolysisGO:005191810.3F2, SERPINF2
4positive regulation of collagen biosynthetic processGO:003296710.3F2, SERPINF2
5blood coagulation, fibrin clot formationGO:007237810.3FGA, FGB, FGG
6cell-matrix adhesionGO:000716010.3FGA, FGB, FGG
7cellular protein complex assemblyGO:004362310.3FGA, FGB, FGG
8negative regulation of endothelial cell apoptotic processGO:200035210.3FGA, FGB, FGG
9negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:190204210.3FGA, FGB, FGG
10platelet aggregationGO:007052710.3FGA, FGB, FGG
11positive regulation of exocytosisGO:004592110.3FGA, FGB, FGG
12positive regulation of heterotypic cell-cell adhesionGO:003411610.3FGA, FGB, FGG
13positive regulation of peptide hormone secretionGO:009027710.3FGA, FGB, FGG
14positive regulation of protein secretionGO:005071410.3FGA, FGB, FGG
15positive regulation of substrate adhesion-dependent cell spreadingGO:190002610.3FGA, FGB, FGG
16positive regulation of vasoconstrictionGO:004590710.3FGA, FGB, FGG
17protein polymerizationGO:005125810.3FGA, FGB, FGG
18negative regulation of proteolysisGO:004586110.2F2, PLAT
19response to calcium ionGO:005159210.1FGA, FGB, FGG
20acute-phase responseGO:000695310.1F2, FGA, SERPINF2
21extracellular matrix organizationGO:00301989.8FGA, FGB, FGG, VWF
22negative regulation of endopeptidase activityGO:00109519.8C3, SERPINC1, SERPINF2
23regulation of complement activationGO:00304499.7C3, CFI
24plasminogen activationGO:00316399.7FGA, FGB, FGG, PLAT
25platelet degranulationGO:00025769.3FGA, FGB, FGG, SERPINF2, VWF
26response to estradiolGO:00323559.3C3, F3, FGA
27positive regulation of ERK1 and ERK2 cascadeGO:00703749.2C3, FGA, FGB, FGG, SERPINF2
28fibrinolysisGO:00427308.8F2, FGA, FGB, FGG, PLAT, SERPINF2
29proteolysisGO:00065088.7C3, CFI, F2, PLAT
30blood coagulationGO:00075967.6C3, F2, F3, FGA, FGB, FGG

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cell adhesion molecule bindingGO:005083910.4FGA, FGB, FGG
2protein binding, bridgingGO:003067410.3FGA, FGB, FGG
3endopeptidase inhibitor activityGO:000486610.3C3, SERPINF2
4structural molecule activityGO:00051989.6FGA, FGB, FGG
5protease bindingGO:00020209.5F3, SERPINC1, SERPINF2, VWF
6receptor bindingGO:00051028.7C3, F2, FGA, FGB, FGG, PLAT
7serine-type endopeptidase activityGO:00042528.4C3, CFI, F2, F3, PLAT
8protein bindingGO:00055156.2C3, CFI, F2, F3, FGA, FGB

Sources for Afibrinogenemia, Congenital

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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