MCID: CNG019
MIFTS: 59

Congenital Afibrinogenemia malady

Blood diseases, Genetic diseases categories

Summaries for Congenital Afibrinogenemia

About this section
Sources:
46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Congenital Afibrinogenemia, also known as hereditary factor i deficiency disease, is related to complement deficiency and afibrinogenemia, and has symptoms including spontaneous abortions, intracranial/cerebral/meningeal hemorrhage and gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia. An important gene associated with Congenital Afibrinogenemia is FGB (fibrinogen beta chain), and among its related pathways are Cell adhesion ECM remodeling and Cell adhesion Plasmin signaling. The compounds serine and calcium heparin have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, skin and kidney, and related mouse phenotypes are cardiovascular system and homeostasis/metabolism.

Description from OMIM:46 202400

Aliases & Classifications for Congenital Afibrinogenemia

About this section
Sources:
8Disease Ontology, 9diseasecard, 60UMLS, 48Orphanet, 56SNOMED-CT, 34MeSH, 39NCIt, 46OMIM, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

48
congenital fibrinogen deficiency:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Variable; Age of death: Any age
familial dysfibrinogenemia:
Inheritance: Autosomal dominant; Age of onset: Variable
familial afibrinogenemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy
familial hypofibrinogenemia:
Inheritance: Autosomal dominant; Age of onset: Variable


Aliases & Descriptions:

congenital afibrinogenemia 8
hereditary factor i deficiency disease 60
congenital fibrinogen deficiency 48
familial hypodysfibrinogenemia 48
afibrinogenemia, congenital 9
familial hypofibrinogenemia 48
familial dysfibrinogenemia 48
familial afibrinogenemia 48
fibrinogen deficiency 8
factor i deficiency 8
afibrinogenemia 60


External Ids:

Disease Ontology8 DOID:2236
MeSH34 D000347
NCIt39 C26692
OMIM46 202400
SNOMED-CT via Orphanet57 234458004, 154818001, 31925001 278504009, more
ICD10 via Orphanet26 D68.2

Related Diseases for Congenital Afibrinogenemia

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Congenital Afibrinogenemia family:

Afibrinogenemia Fga-Related Congenital Afibrinogenemia
Fgb-Related Congenital Afibrinogenemia Fgg-Related Congenital Afibrinogenemia

Diseases related to Congenital Afibrinogenemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 133)
idRelated DiseaseScoreTop Affiliating Genes
1complement deficiency30.9CR1
2afibrinogenemia30.8FGA, FGB
3protein c deficiency30.2F2
4thrombocytopenia30.1FGA, F3, VWF, F2
5thrombophilia30.0FGA, F3, VWF, F2
6peritonitis30.0CFI, F2, CR1
7intracranial thrombosis30.0VWF, F3, FGA
8pulmonary embolism30.0FGB, FGA, F3, F2
9von willebrand's disease30.0F2, VWF, F3
10systemic lupus erythematosus30.0CR1
11pneumonia29.9FGA, CR1
12lupus erythematosus29.9F2, F3
13vasculitis29.9CFI, F2, VWF, FGA
14cholestasis29.9F2
15glomerulonephritis29.9CR1, CFI
16hepatitis29.8CR1, F2
17complement factor i deficiency10.7
18insulin-like growth factor i deficiency10.4
19fibrinogen deficiency, congenital10.2
20fga-related congenital afibrinogenemia10.2
21fgb-related congenital afibrinogenemia10.2
22fgg-related congenital afibrinogenemia10.2
23prostatitis10.1
24laron syndrome10.1
25c3 deficiency10.1
26meningitis10.1
27hemangioma of spleen10.1
28giant hemangioma10.1
29hemangioma10.1
30prostate cancer10.1
31hypofibrinogenemia, familial10.0
32marfan syndrome10.0
33corpus luteum cyst10.0
34hemopneumothorax10.0
35cellulitis10.0
36cerebritis10.0
37constrictive pericarditis10.0
38arthropathy10.0
39osteomyelitis10.0
40pericarditis10.0
41periodontitis10.0
42hemophilia10.0
43retinopathy of prematurity10.0
44aseptic meningitis10.0
45immune-complex glomerulonephritis10.0
46amyloidosis10.0
47encephalitis10.0
48complement factor h deficiency10.0
49primary pulmonary hypertension10.0FGA
50hypercholesterolemia10.0FGA

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



Diseases related to congenital afibrinogenemia

Clinical Features for Congenital Afibrinogenemia

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

202400

Symptoms:

48 (show all 11)
  • spontaneous abortions
  • intracranial/cerebral/meningeal hemorrhage
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • epistaxis/nose bleeding
  • gingivorrhagia/gingival bleeding
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • venous thrombosis/phlebitis/thrombophlebitis
  • metrorrhagia/menorrhagia/hemorrhagic cycles/hyper/poly/spanio/dysmenorrhea
  • hydrarthrosis/articular/joint effusion

Drugs & Therapeutics for Congenital Afibrinogenemia

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Congenital Afibrinogenemia

Drug clinical trials:

Search ClinicalTrials for Congenital Afibrinogenemia

Search NIH Clinical Center for Congenital Afibrinogenemia

Search CenterWatch for Congenital Afibrinogenemia

Genetic Tests for Congenital Afibrinogenemia

About this section

Anatomical Context for Congenital Afibrinogenemia

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Congenital Afibrinogenemia:

32
Spinal cord, Skin, Kidney

Animal Models for Congenital Afibrinogenemia or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Congenital Afibrinogenemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.5F2, F3, FGG, FGA
2MP:00053767.0CFI, FGA, FGG, F3, VWF, F2

Publications for Congenital Afibrinogenemia

About this section
Sources:
50PubMed
See all sources

Articles related to Congenital Afibrinogenemia:

(show top 50)    (show all 108)
idTitleAuthorsYear
1
Pulmonary embolism in a patient with congenital afibrinogenemia. (23855372)
2013
2
Thrombotic and hemorrhagic presentation of congenital hypo/afibrinogenemia. (20870369)
2011
3
A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream. (19417632)
2009
4
Spinal cord infarction in congenital afibrinogenemia: a case report and review of the literature. (19560685)
2009
5
Spontaneous extra-axial intracranial hemorrhage followed by thrombosis in congenital afibrinogenemia: perioperative management of this rare combination. (18295846)
2009
6
Congenital afibrinogenemia diagnosis by estimating plasma fibrinogen by conventional method with clinical correlation. (18603723)
2008
7
Capsule endoscopy findings in congenital afibrinogenemia-associated angiopathy. (19003752)
2008
8
Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations. (17295221)
2007
9
Hemi-spinal cord infarction due to vertebral artery dissection in congenital afibrinogenemia. (15505182)
2004
10
Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells. (15284111)
2004
11
Nonketotic hyperosmolar coma associated with splenic rupture in congenital afibrinogenemia. (15454840)
2004
12
Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion. (12893758)
2003
13
Outcome of donor splice site mutations accounting for congenital afibrinogenemia reflects order of intron removal in the fibrinogen alpha gene (FGA). (12406899)
2003
14
Congenital afibrinogenemia: intracellular retention of fibrinogen due to a novel W437G mutation in the fibrinogen Bbeta-chain gene. (14559115)
2003
15
Unusually quick resorption of an intracerebral hemorrhage in congenital afibrinogenemia. (12428125)
2002
16
Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs. (11739173)
2001
17
Fibrinogen gene mutations accounting for congenital afibrinogenemia. (11460507)
2001
18
Intra-abdominal hemorrhage due to a ruptured corpus luteum cyst in a girl with congenital afibrinogenemia. (11277385)
2001
19
Homozygous truncation of the fibrinogen A alpha chain within the coiled coil causes congenital afibrinogenemia. (10887149)
2000
20
Treatment of congenital afibrinogenemia with cryoprecipitate collected through a plasmapheresis program using dedicated donors. (9886792)
1998
21
Congenital afibrinogenemia: treatment of excessive menstrual bleeding with continuous oral contraceptive. (8756102)
1996
22
Congenital afibrinogenemia with successful delivery. (8840182)
1996
23
Congenital afibrinogenemia: successful prevention of recurrent hemoperitoneum during ovulation by oral contraceptive. (7639293)
1995
24
Increased prothrombin activation in a patient with congenital afibrinogenemia is reversible by fibrinogen substitution. (8086775)
1994
25
Congenital afibrinogenemia. (8037188)
1994
26
Association of congenital afibrinogenemia and K-dependent protein C deficiency--a case report. (8357104)
1993
27
Failure of DDAVP to shorten the prolonged bleeding time of two patients with congenital afibrinogenemia. (1471077)
1992
28
Coexistence of congenital afibrinogenemia and protein C deficiency in a patient. (1503100)
1992
29
Perioperative management of a patient with congenital afibrinogenemia. (15235972)
1990
30
von Willebrand factor interaction with the glycoprotein IIb/IIa complex. Its role in platelet function as demonstrated in patients with congenital afibrinogenemia. (3007578)
1986
31
First report of case of congenital afibrinogenemia with successful delivery. (4073147)
1985
32
Congenital afibrinogenemia and recurrent early abortion: a case report. (4018369)
1985
33
Congenital afibrinogenemia: an unusual case. (3997502)
1985
34
Dental treatment of a patient with congenital afibrinogenemia--complications of supportive care. (6461847)
1981
35
Demonstration of a double hereditary pattern for congenital afibrinogenemia. (7296014)
1981
36
Severe ovarian hemorrhage in congenital afibrinogenemia. (7282313)
1981
37
Delayed-type hypersensitivity skin reactions in congenital afibrinogenemia lack fibrin deposition and induration. (447844)
1979
38
Platelet adhesiveness and aggregation in congenital afibrinogenemia. An investigation of three patients with post-transfusion, cross-correction studies between two of them. (1111662)
1975
39
A report of a case of congenital afibrinogenemia. (5058707)
1972
40
Congenital afibrinogenemia in goats. (4628722)
1972
41
Congenital afibrinogenemia. A case report with some considerations on the hereditary transmission of this disorder. (5561958)
1971
42
A case of congenital afibrinogenemia and review of reported cases in Japan. (5708511)
1968
43
Congenital afibrinogenemia. A case report and therapeutic trials. (5916625)
1966
44
Platelet function in congenital afibrinogenemia. (5865600)
1965
45
Congenital afibrinogenemia. (13940499)
1963
46
Congenital afibrinogenemia. (13586249)
1958
47
Congenital afibrinogenemia; report on a newborn infant without fibrinogen. (13417038)
1957
48
Congenital afibrinogenemia; report on a child without fibrinogen and review of the literature. (13206384)
1954
49
Studies on the metabolism of fibrinogen in two patients with congenital afibrinogenemia. (13066510)
1953
50
A case of congenital afibrinogenemia. (14795825)
1951

Genetic Variations for Congenital Afibrinogenemia

About this section

Expression for genes affiliated with Congenital Afibrinogenemia

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Congenital Afibrinogenemia

Search GEO for disease gene expression data for Congenital Afibrinogenemia.

Pathways for genes affiliated with Congenital Afibrinogenemia

About this section
Sources:
12EMD Millipore, 53Reactome, 49PharmGKB, 29KEGG, 51QIAGEN, 37NCBI BioSystems Database, 52R&D Systems
See all sources

Pathways related to Congenital Afibrinogenemia according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Cell adhesion ECM remodeling
Hide members
9.3FGB, FGA, FGG
29.3FGG, FGA, FGB
3
Hide members
9.3F2, F3
4
Hide members
8.8FGB, FGA, FGG, F2
5
Hide members
8.5FGB, FGA, FGG, VWF
6
Hide members
8.5VWF, FGG, FGA, FGB
7
Hide members
8.5VWF, FGG, FGA, FGB
8
Hide members
8.2FGB, FGA, FGG, F3, F2
9
Hide members
8.2FGB, FGA, FGG, F3, F2
10
Hide members
8.0F2, VWF, FGG, FGA, FGB
11
Hide members
8.0FGB, FGA, FGG, VWF, F2
128.0FGB, FGA, FGG, VWF, F2
13
Hide members
7.4FGB, FGA, FGG, F3, VWF, F2
14
Hide members
7.4FGB, FGA, FGG, F3, VWF, F2
15
Hide members
6.4CFI, CR1, FGB, FGA, FGG, F3

Compounds for genes affiliated with Congenital Afibrinogenemia

About this section
Sources:
44Novoseek, 11DrugBank, 49PharmGKB, 24HMDB, 28IUPHAR, 2BitterDB, 59Tocris Bioscience
See all sources

Compounds related to Congenital Afibrinogenemia according to GeneCards/GeneDecks:

(show top 50)    (show all 85)
idCompoundScoreTop Affiliating Genes
1serine4410.3FGA
2calcium heparin449.8F3, FGA
3sucralfate44 1110.8FGA, FGG, FGB
4rsai449.7FGG, FGA, FGB
5desirudin449.7FGA, F3
6aprosulate449.7F3, F2
7hirugen449.7F2, FGA
8napsagatran449.7F3, F2
9warfarin44 49 11 2412.7FGA, VWF
10brodifacoum449.7F3, F2
11appt449.6F2, F3
12batroxobin449.6FGA, F2, FGB
13certoparin449.6F3, F2
14inogatran449.6F3, F2
15heparin sodium449.6F3, F2
16heparin44 28 11 2412.5CFI, FGA, CR1
17dextran 70449.5F2, F3
18ecarin449.4F2, F3
19spectrozyme449.4F2, F3
20hemochron449.4F3, FGA, F2
21bivalirudin44 1110.3F2, FGA, F3
22argatroban44 1110.3F3, FGA, F2
23polybrene449.3F3, F2
24danaparoid449.3F3, F2
25coumarin44 2 49 2412.3F2, F3, FGA
26fibrinopeptide a449.2F2, FGA
27protamine449.2F2, F3, FGA
2811-dehydrothromboxane b2449.1FGA, F2, VWF
29aprotinin44 1110.0FGA, VWF, F3
30ticlopidine44 1110.0F3, FGA, VWF
31polysulfone449.0FGA, F3, VWF
32txb2449.0FGA, F3, VWF
33hydroxyethyl starch448.9F2, VWF, F3
34tranexamic acid44 119.9VWF, F3, F2
35tirofiban44 119.9F2, VWF, F3
36ristocetin448.9F2, VWF, F3
37abciximab44 119.9F2, F3, VWF
38clopidogrel49 44 11 2411.9VWF, F3, F2
39desmopressin44 59 28 1111.9F2, VWF, F3
40dermatan sulfate448.8F2, VWF, F3
41pge1448.6FGA, VWF, F2
42ppack448.5F3, FGA, VWF, F2
43dipyridamole44 59 28 1111.5FGA, F2, VWF, F3
44kininogen448.5F3, VWF, F2, CFI
45aspirin44 49 28 2411.4F3, FGA, VWF, F2
46epinephrine44 11 2410.4F3, F2, FGA, VWF
47hirudin448.2FGB, FGA, F3, VWF, F2
48phospholipid448.2CR1, F3, F2, VWF
49creatinine448.0F2, F3, FGA, CFI, VWF
50fibrinogen447.4FGB, FGA, CFI, F2, VWF, F3

GO Terms for genes affiliated with Congenital Afibrinogenemia

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Congenital Afibrinogenemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:0725629.8FGG, FGB
2fibrinogen complexGO:0055779.5FGB, FGA, FGG
3cell cortexGO:0059389.0FGG, FGA, FGB
4platelet alpha granuleGO:0310918.7VWF, FGG, FGA, FGB
5platelet alpha granule lumenGO:0310938.7VWF, FGG, FGA, FGB
6external side of plasma membraneGO:0098978.6FGB, FGA, FGG, VWF
7cell surfaceGO:0099868.4F3, FGG, FGA, FGB, CR1
8extracellular spaceGO:0056157.9FGB, FGA, FGG, F3, F2, CFI
9plasma membraneGO:0058867.7FGB, FGA, FGG, F3, F2, CR1
10extracellular regionGO:0055767.4FGB, FGA, FGG, VWF, F2, CFI

Biological processes related to Congenital Afibrinogenemia according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1protein polymerizationGO:0512589.5FGG, FGA, FGB
2response to calcium ionGO:0515929.4FGG, FGA, FGB
3regulation of complement activationGO:0304499.4CFI, CR1
4complement activation, classical pathwayGO:0069589.2CFI, CR1
5blood coagulation, intrinsic pathwayGO:0075979.1VWF, F2
6response to woundingGO:0096119.1F2, VWF
7platelet degranulationGO:0025768.7FGB, FGA, FGG, VWF
8platelet activationGO:0301688.2FGB, FGA, FGG, VWF, F2
9blood coagulationGO:0075967.6F2, VWF, F3, FGG, FGA, FGB

Molecular functions related to Congenital Afibrinogenemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chaperone bindingGO:0510879.3VWF, FGB
2protein binding, bridgingGO:0306749.2FGG, FGA, FGB
3receptor bindingGO:0051028.5F2, FGG, FGA, FGB

Products for genes affiliated with Congenital Afibrinogenemia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Afibrinogenemia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet