MCID: AFB002
MIFTS: 49

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 49 11
Congenital Afibrinogenemia 10 23 47 12 67
Afibrinogenemia 23 36 65
Familial Afibrinogenemia 23 51
Complement Factor I Deficiency 65
Hypofibrinogenemia, Congenital 49
 
Congenital Hypofibrinogenemia 65
Afibrinogenemia Congenital 24
Fibrinogen Deficiency 10
Factor I Deficiency 10
Hypofibrinogenemia 65
Cafbn 67

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
afibrinogenemia, congenital:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 202400
Disease Ontology10 DOID:2236
ICD1027 D68.2
MeSH36 D000347
Orphanet51 98880
ICD10 via Orphanet28 D68.2
UMLS65 C0001733, C2584774, C0553681 C3463916, more

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 senile cataract and adenocarcinoma, and has symptoms including spontaneous abortion, gastrointestinal hemorrhage and joint swelling. An important gene associated with Afibrinogenemia, Congenital is FGG (Fibrinogen Gamma Chain), and among its related pathways are Development Angiotensin activation of ERK and Dissolution of Fibrin Clot. Affiliated tissues include spleen, brain and liver, and related mouse phenotypes are embryo and digestive/alimentary.

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 148)
idRelated DiseaseScoreTop Affiliating Genes
1senile cataract29.9F2, SERPINC1
2adenocarcinoma29.1F2, F3, PLAT, SERPINC1
3myocardial infarction27.6F2, F3, FGA, FGB, PLAT, SERPINC1
4complement factor i deficiency12.7
5fibrinogen deficiency, congenital12.5
6fga-related congenital afibrinogenemia12.4
7fgb-related congenital afibrinogenemia12.4
8fgg-related congenital afibrinogenemia12.4
9growth retardation with deafness and mental retardation due to igf1 deficiency11.9
10insulin-like growth factor i11.6
11afibrinogenemia11.4
12central nervous system osteosarcoma10.4F2, F3
13epiglottitis10.4F2, F3
14vaginal villous adenoma10.4F2, F3
15herpes gestationis10.4F2, F3
16hypertrichosis10.4F2, F3
17pericardial mesothelioma10.4F2, SERPINC1
18microcytic anemia10.4F2, F3
19splenic abscess10.3F2, F3
20skull base meningioma10.3F2, F3
21thrombophilia due to thrombin defect10.3F2, SERPINC1
22fissured tongue10.3F2, SERPINC1
23cerebrovascular disease10.3F2, SERPINC1
24sertoli cell tumor10.3F3, SERPINC1
25inferior myocardial infarction10.3F2, SERPINC1
26facioscapulohumeral muscular dystrophy 110.3F2, F3
27complement factor h deficiency10.3
28sesame syndrome10.3F2, SERPINC1
29west nile encephalitis10.3F2, SERPINC1
30maple bark strippers' lung10.3F2, SERPINC1
31hypoganglionosis10.3FGA, FGB, FGG
32peripheral motor neuropathy-dysautonomia syndrome10.3FGA, FGB, FGG
33meniere's disease10.3F2, F3
34eccrine sweat gland neoplasm10.3F2, SERPINC1
35amyloidosis, familial visceral10.3FGA, FGB, FGG
36dysthymic disorder10.3F2, VWF
37diffuse meningeal melanocytosis10.3F2, SERPINC1
38benign pericardial teratoma10.3F3, VWF
39tricuspid valve disease10.3F2, F3
40facial nerve disease10.3F2, SERPINC1
41scarlet fever10.3C3, F2
42thrombocytopenia cerebellar hypoplasia short stature10.3F2, F3
43heart cancer10.3F2, SERPINC1
44protein s deficiency10.2F2, SERPINC1
45metaphyseal dysplasia10.2C3, F3
46acrodermatitis10.2F2, SERPINC1
47coagulation protein disease10.2F3, SERPINF2
48tetanus10.2C3, F3
49budd-chiari syndrome10.2F2, FGB, SERPINC1
50thrombophilia, x-linked, due to factor ix defect10.2F2, F3

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

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
1Immunosuppressive AgentsPhase 210422
2Immunologic FactorsPhase 218483
3Complement System ProteinsPhase 2190
4Complement Inactivating AgentsPhase 271
5Complement 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 DeficiencyRecruitingNCT02408484Phase 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
7Pharmacokinetics, Efficacy, and Safety of Human Plasma-Derived Fibrinogen (FIB Grifols) in Patients With Congenital AfibrinogenaemiaRecruitingNCT02281500Phase 1, Phase 2
8Pharmacokinetic, Efficacy and Safety of BT524 in Patients With Congenital Fibrinogen DeficiencyActive, not recruitingNCT02065882Phase 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
Spleen, Brain, Liver, Skin, Tongue

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:00053808.6C3, F2, F3, FGA, FGG, SERPINC1
2MP:00053818.2C3, F2, FGA, PLAT, VWF
3MP:00053898.1C3, F2, FGA, FGG, PLAT, SERPINC1
4MP:00036317.4C3, F2, F3, FGA, PLAT, SERPINC1
5MP:00053856.8C3, F2, F3, FGA, FGG, PLAT
6MP:00053876.6C3, F2, F3, FGA, FGG, PLAT
7MP:00053976.3C3, CFI, F2, F3, FGA, FGG
8MP:00053765.9C3, CFI, F2, F3, 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:

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 13)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.2F2, FGA, FGB, FGG
29.1PLAT, SERPINF2
39.1FGA, FGB, FGG, VWF
4
Show member pathways
9.1FGA, FGB, FGG, VWF
59.1FGA, FGB, FGG, VWF
69.0C3, CFI, FGG
78.8F2, FGA, FGB, FGG, VWF
8
Show member pathways
8.8F2, FGA, FGB, FGG, VWF
98.7FGA, FGB, FGG, PLAT
10
Show member pathways
8.4F2, F3, FGA, FGB, FGG, SERPINC1
11
Show member pathways
6.6F2, F3, FGA, FGB, FGG, PLAT
12
Show member pathways
6.6F2, F3, FGA, FGB, FGG, PLAT
13
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:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:00725629.6FGA, FGB, FGG
2platelet alpha granule lumenGO:00310939.2FGA, FGB, FGG, VWF

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of collagen biosynthetic processGO:003296710.2F2, SERPINF2
2positive regulation of heterotypic cell-cell adhesionGO:003411610.1FGA, FGB, FGG
3acute-phase responseGO:000695310.1FGA, SERPINF2
4negative regulation of endothelial cell apoptotic processGO:200035210.0FGA, FGB, FGG
5fibrinolysisGO:00427309.9FGA, FGB, FGG
6negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:19020429.9FGA, FGB, FGG
7response to calcium ionGO:00515929.7FGA, FGB, FGG
8positive regulation of exocytosisGO:00459219.7FGA, FGB, FGG
9platelet activationGO:00301689.6FGA, FGB, FGG
10response to woundingGO:00096119.6F2, F3, VWF
11plasminogen activationGO:00316399.6FGA, FGB, FGG
12blood coagulationGO:00075969.2F2, FGA, SERPINF2
13response to estradiolGO:00323559.0C3, F3, FGA
14platelet degranulationGO:00025768.8FGA, FGB, FGG, SERPINF2, VWF

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

idNameGO IDScoreTop Affiliating Genes
1endopeptidase inhibitor activityGO:00048669.4C3, SERPINF2

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