CAFBN
MCID: AFB002
MIFTS: 54

Afibrinogenemia, Congenital (CAFBN) 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 lupus erythematosus and complement factor i deficiency, and has symptoms including Array, Array and Array. 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 immune system.

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.

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.

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 141)
idRelated DiseaseScoreTop Affiliating Genes
1lupus erythematosus28.9F3, PLAT, SERPINC1, VWF
2complement factor i deficiency12.4
3fibrinogen deficiency, congenital12.0
4fga-related congenital afibrinogenemia11.8
5fgb-related congenital afibrinogenemia11.8
6fgg-related congenital afibrinogenemia11.8
7growth retardation with deafness and mental retardation due to igf1 deficiency11.5
8insulin-like growth factor i11.5
9afibrinogenemia11.4
10complement factor h deficiency10.8
11hemarthrosis10.3F2, F3
12hendra virus infection10.2F2, F3
13dyskinetic cerebral palsy10.2F2, F3
14stroke, ischemic10.2F2, F3
15vascular erectile tumor10.2F2, SERPINC1
16mixed epithelial tumor of ovary10.2F2, SERPINC1
17may-hegglin anomaly10.2F2, SERPINC1
18sporotrichosis10.2F2, F3
19sertoli cell tumor10.2F3, SERPINC1
20hereditary endotheliopathy, retinopathy, nephropathy, and stroke10.2F3, SERPINC1
21chronic inflammatory demyelinating polyneuritis10.2F2, F3
22seminoma10.2F2, F3
23left-right axis malformations10.2F2, SERPINC1
24lymphocytic colitis10.2F2, SERPINC1
25small intestinal l-cell glucagon-like peptide producing tumor10.2F2, VWF
26brain stem cancer10.2F2, F3
27schwannoma of jugular foramen10.2F2, SERPINC1
28bullous skin disease10.2F2, SERPINC1
29citrulline transport defect10.2F2, FGA, FGB
30neuronopathy, distal hereditary motor, type iid10.2F3, SERPINC1
31neuroaxonal dystrophy10.2F2, SERPINC1
32cerebellar astrocytoma10.2F2, SERPINC1
33periosteal chondrosarcoma10.2F2, SERPINC1
34hodgkin's lymphoma, lymphocytic depletion10.2C3, F2
35unverricht-lundborg syndrome10.2FGB, PLAT
36coloboma of optic papilla10.2SERPINC1, SERPINF2
37angelucci's syndrome10.1F2, SERPINC1
38brazilian hemorrhagic fever10.1PLAT, SERPINC1
39freiberg's disease10.1F2, F3, SERPINC1
40immunodeficiency 2110.1F2, FGA, VWF
41pancreatic ductal carcinoma10.1F2, F3, SERPINC1
42chorioretinal scar10.1F2, F3, SERPINC1
43melorheostosis10.1PLAT, SERPINC1
44spinal cord lipoma10.1F2, F3, SERPINC1
45midline cystocele10.1F2, F3, SERPINC1
46blepharoconjunctivitis10.1F2, F3, SERPINC1
47intestinal disaccharidase deficiency10.1F2, F3, SERPINC1
48hereditary alpha tryptasemia syndrome10.1F2, F3, SERPINC1
49fanconi-bickel syndrome10.1PLAT, SERPINC1
50scapuloperoneal myopathy, x-linked dominant10.1F2, F3, SERPINC1

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:

 54 64 (show all 10)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gingival bleeding64 54 Very frequent (99-80%) HP:0000225
2 epistaxis64 54 Very frequent (99-80%) HP:0000421
3 cerebral hemorrhage64 54 Occasional (29-5%) HP:0001342
4 joint swelling64 54 Very frequent (99-80%) HP:0001386
5 abnormal bleeding64 54 Very frequent (99-80%) HP:0001892
6 spontaneous abortion64 54 Very frequent (99-80%) HP:0005268
7 menometrorrhagia64 54 Very frequent (99-80%) HP:0400008
8 gastrointestinal hemorrhage64 54 Very frequent (99-80%) HP:0002239
9 hypofibrinogenemia64 HP:0011900
10 splenic rupture64 HP:0012223

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:00053877.9C3, F2, F3, FGA, FGG, PLAT
3MP:00053857.7C3, F2, F3, FGA, FGB, FGG
4MP:00053897.7C3, F2, FGA, FGB, 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 14)
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_ 000004.12: g.(154580323_ 154580329)_ (154590210_ 154590216)deldeletionPathogenicGRCh38Chr 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
14FGANM_ 000508.4(FGA): c.502C> T (p.Arg168Ter)SNVPathogenicrs755117226GRCh37Chr 4, 155508672: 155508672

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 14)
idSuper pathwaysScoreTop Affiliating Genes
19.3PLAT, SERPINF2
2
Show member pathways
9.2F2, FGA, FGB, FGG
39.1FGA, FGB, FGG, VWF
4
Show member pathways
9.1FGA, FGB, FGG, VWF
5
Show member pathways
9.1FGA, FGB, FGG, VWF
6
Show member pathways
9.1FGA, FGB, FGG, VWF
78.9FGA, FGB, FGG, PLAT
88.8C3, CFI, FGG
9
Show member pathways
8.8F2, FGA, FGB, FGG, VWF
108.8F2, FGA, FGB, FGG, VWF
11
Show member pathways
8.4F2, F3, FGA, FGB, FGG, SERPINC1
12
Show member pathways
6.8F2, F3, FGA, FGB, FGG, PLAT
13
Show member pathways
6.8F2, F3, FGA, FGB, FGG, PLAT
14
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:000989710.0F2, FGA, FGB, FGG
3platelet alpha granuleGO:00310919.6FGA, FGB, FGG, VWF
4fibrinogen complexGO:00055779.6FGA, FGB, FGG, SERPINF2
5endoplasmic reticulum lumenGO:00057889.4C3, F2, FGA, FGG, SERPINC1
6cell surfaceGO:00099868.9F3, FGA, FGB, FGG, PLAT, SERPINF2
7platelet alpha granule lumenGO:00310938.6FGA, FGB, FGG, SERPINF2, VWF
8blood microparticleGO:00725628.6C3, F2, FGA, FGB, FGG, SERPINC1
9extracellular spaceGO:00056156.5C3, CFI, F2, F3, FGA, FGB
10extracellular exosomeGO:00700626.3C3, CFI, F2, F3, FGA, FGB
11extracellular regionGO:00055766.2C3, CFI, F2, F3, FGA, FGB

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

(show all 35)
idNameGO IDScoreTop Affiliating Genes
1induction of bacterial agglutinationGO:004315210.6FGA, FGB
2blood coagulation, intrinsic pathwayGO:000759710.4F2, VWF
3acute-phase responseGO:000695310.4F2, SERPINF2
4blood coagulation, fibrin clot formationGO:007237810.3FGA, FGB, FGG
5cell-matrix adhesionGO:000716010.3FGA, FGB, FGG
6cellular protein complex assemblyGO:004362310.3FGA, FGB, FGG
7negative regulation of fibrinolysisGO:005191810.3F2, SERPINF2
8regulation of blood coagulationGO:003019310.3F2, SERPINC1
9positive regulation of collagen biosynthetic processGO:003296710.3F2, SERPINF2
10negative regulation of endothelial cell apoptotic processGO:200035210.3FGA, FGB, FGG
11negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:190204210.3FGA, FGB, FGG
12platelet aggregationGO:007052710.3FGA, FGB, FGG
13positive regulation of exocytosisGO:004592110.2FGA, FGB, FGG
14positive regulation of heterotypic cell-cell adhesionGO:003411610.2FGA, FGB, FGG
15positive regulation of peptide hormone secretionGO:009027710.2FGA, FGB, FGG
16positive regulation of protein secretionGO:005071410.2FGA, FGB, FGG
17positive regulation of substrate adhesion-dependent cell spreadingGO:190002610.2FGA, FGB, FGG
18positive regulation of vasoconstrictionGO:004590710.2FGA, FGB, FGG
19negative regulation of proteolysisGO:004586110.2F2, PLAT
20protein polymerizationGO:005125810.2FGA, FGB, FGG
21response to calcium ionGO:005159210.0FGA, FGB, FGG
22extracellular matrix organizationGO:00301989.9FGA, FGB, FGG, VWF
23negative regulation of endopeptidase activityGO:00109519.7C3, SERPINC1, SERPINF2
24positive regulation of ERK1 and ERK2 cascadeGO:00703749.7FGA, FGB, FGG, SERPINF2
25plasminogen activationGO:00316399.7FGA, FGB, FGG, PLAT
26toll-like receptor signaling pathwayGO:00022249.6FGA, FGB, FGG
27post-translational protein modificationGO:00436879.6C3, FGA, FGG, SERPINC1
28platelet activationGO:00301689.5F2, FGA, FGB, FGG, VWF
29cellular protein metabolic processGO:00442679.4C3, F2, FGA, FGG, SERPINC1
30regulation of complement activationGO:00304499.3C3, CFI, F2
31platelet degranulationGO:00025769.3FGA, FGB, FGG, SERPINF2, VWF
32innate immune responseGO:00450879.3C3, CFI, FGA, FGB
33fibrinolysisGO:00427308.8F2, FGA, FGB, FGG, PLAT, SERPINF2
34hemostasisGO:00075998.7F2, F3, FGA, FGB, FGG, SERPINC1
35blood coagulationGO:00075968.1F2, F3, FGA, FGB, FGG, PLAT

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

(show all 9)
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
6serine-type peptidase activityGO:00082369.3CFI, F2, PLAT
7receptor bindingGO:00051028.8C3, F2, FGA, FGB, FGG, PLAT
8serine-type endopeptidase activityGO:00042528.4C3, CFI, F2, F3, PLAT
9protein 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