MCID: AFB001
MIFTS: 52

Afibrinogenemia malady

Genetic category

Summaries for Afibrinogenemia

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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Genetics Home Reference:21 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 after birth. Nosebleeds (epistaxis), bleeding from the gums or tongue, and bleeding into the spaces between joints (hemarthrosis) or the muscles (hematoma) are common and can occur after minor trauma or in the absence of injury (spontaneous bleeding). 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, affected women may have difficulty carrying a pregnancy to term, resulting in repeated miscarriages.

MalaCards: Afibrinogenemia, also known as congenital afibrinogenemia, is related to thrombocytopenia and protein c deficiency. An important gene associated with Afibrinogenemia is FGB (fibrinogen beta chain), and among its related pathways are Cell adhesion ECM remodeling and Cell adhesion Plasmin signaling. The compounds warfarin and cardiolipin have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and tongue, and related mouse phenotypes are reproductive system and hematopoietic system.

NIH Rare Diseases:43 Afibrinogenemia, sometimes called congenital afibrinogenemia, is an inherited blood disorder in which the blood does not clot normally. it occurs when there is a lack (deficiency) of a protein called fibrinogen (or factor i), which is needed for the blood to clot. affected individuals may be susceptible to severe bleeding (hemorrhaging) episodes, particularly during infancy and childhood. afibrinogenemia is thought to be transmitted as an autosomal recessive trait. last updated: 7/17/2009

Wikipedia:64 Congenital afibrinogenemia is a rare inherited blood disorder in which the blood does not clot normally... more...

Description from OMIM:47 202400

Aliases & Classifications for Afibrinogenemia

Sources:
43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 61UMLS
See all sources

Classifications:

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


Aliases & Descriptions:

afibrinogenemia 43 22 21 45 61
congenital afibrinogenemia 43 21 10 45
afibrinogenemia, congenital 47
afibrinogenemia congenital 43
familial afibrinogenemia 21


Related Diseases for Afibrinogenemia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the congenital afibrinogenemia family:

afibrinogenemia

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

(show top 50)    (show all 163)
idRelated DiseaseScoreTop Affiliating Genes
1thrombocytopenia30.2F2, VWF, F3, FGA, CD46, F10
2protein c deficiency30.1F2, F5, CFP
3hepatitis a29.9F2, F8
4dysfibrinogenemia29.9F2, FGA, F5
5hepatitis c29.9F2, CR1, F8
6venous thrombosis29.8F3, F2, VWF, FGA, FGB, F11
7congenital afibrinogenemia11.0
8fga-related congenital afibrinogenemia10.1
9fgb-related congenital afibrinogenemia10.1
10fgg-related congenital afibrinogenemia10.1
11spinal cord infarction10.1
12bacteremia10.1
13primary pulmonary hypertension10.0FGA
14dilated cardiomyopathy10.0FGA
15systemic lupus erythematosus10.0CR1
16intermittent claudication10.0VWF
17complement factor i deficiency10.0CFI
18varicose veins10.0F2
19cholestasis10.0F2
20age related macular degeneration10.0C3
21nephrotic syndrome10.0CFI, FGA
22colorectal cancer10.0CD46
23infertility10.0CD46
24carotid artery thrombosis10.0F3
25obesity10.0C3
26angiodysplasia10.0VWF
27endocarditis10.0F10
28amyloidosis10.0F10
29endometriosis10.0CD46
30pneumonia10.0CR1, FGA
31coronary thrombosis10.0VWF, F3
32wilms tumor10.0CR1
33thrombophlebitis10.0F8
34respiratory failure10.0F3
35colon cancer10.0CFI, FGA
36essential hypertension10.0VWF, FGA
37arthus reaction10.0CD46
38uremia10.0VWF, CR1
39malaria10.0CFP, CR1
40hemangioma10.0F8
41atypical hemolytic-uremic syndrome10.0CD46, CFI
42sickle cell disease10.0VWF, CFI, FGA
43stomach cancer10.0CD46, FGA
44vitamin k deficiency hemorrhagic disease10.0F3, F2
45sepsis10.0CFI, CFP
46acute leukemia10.0CD46, FGA
47retinal vein occlusion10.0F5
48central retinal vein occlusion10.0F5
49peripheral vascular disease10.0F3, VWF
50peritonitis10.0CFI, F2, CR1

Graphical network of the top 20 diseases related to Afibrinogenemia:



Diseases related to afibrinogenemia

Clinical Features for Afibrinogenemia

Sources:
47OMIM
See all sources

Clinical features from OMIM:

202400

Clinical synopsis from OMIM:

202400

Drugs & Therapeutics for Afibrinogenemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Afibrinogenemia

Drug clinical trials:

Search ClinicalTrials for Afibrinogenemia

Search NIH Clinical Center for Afibrinogenemia

Search CenterWatch for Afibrinogenemia

Genetic Tests for Afibrinogenemia

Sources:
22GTR
See all sources

Genetic tests related to Afibrinogenemia:

id Genetic test Affiliating Genes
1 Afibrinogenemia22

Anatomical Context for Afibrinogenemia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Afibrinogenemia:

33
Skin, Liver, Tongue, Spinal cord, Brain, Kidney, Lung, Uterus, Placenta, Prostate, T cells, Fetal liver, Fetal lung, Uterus corpus

Animal Models for Afibrinogenemia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Afibrinogenemia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053897.7F8, F10, CD46, FGA, FGG, C3
2MP:00053977.6F8, F11, FGA, FGG, F3, VWF
3MP:00053857.4C3, F10, F11, FGA, FGG, F3
4MP:00053877.4F8, F11, FGA, FGG, F3, VWF
5MP:00036317.2F11, FGA, F3, VWF, F2, SRSF1
6MP:00053765.9FGA, F11, F10, F5, F8, FGG
7MP:00107685.6FGA, F11, F10, F5, F8, FGG

Publications for Afibrinogenemia

Sources:
51PubMed
See all sources

Articles related to Afibrinogenemia:

(show top 50)    (show all 212)
idTitleAuthorsYear
1
Diagnosis and non-surgical periodontal management in congenital afibrinogenemia: report of a rare case. (22323341)
2012
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
A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment. (18853456)
2009
5
Congenital afibrinogenemia diagnosis by estimating plasma fibrinogen by conventional method with clinical correlation. (18603723)
2008
6
Interstitial pregnancy in a woman with congenital afibrinogenemia. (18834350)
2008
7
A case of afibrinogenemia associated with A-alpha chain gene compound heterozygosity (HUMFIBRA c.[4110delA]+[3200+1G>T]). (17179831)
2007
8
Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations. (17295221)
2007
9
An intronic mutation within FGB (IVS1+2076 a-->g) is associated with afibrinogenemia and recurrent transient ischemic attacks. (16420582)
2006
10
The DNA-pooling technique allowed for the identification of three novel mutations responsible for afibrinogenemia. (16241964)
2005
11
Congenital afibrinogenemia complicated by spontaneous cerebral hemorrhage and unusually quick resorption. (15726270)
2005
12
Coxopathy in congenital afibrinogenemia. (16357746)
2005
13
Case 1-2005: cardiac surgery in congenital afibrinogenemia with thrombo-occlusive disease. (15747281)
2005
14
Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion. (12893758)
2003
15
Congenital afibrinogenemia: intracellular retention of fibrinogen due to a novel W437G mutation in the fibrinogen Bbeta-chain gene. (14559115)
2003
16
Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta-chain gene causing activation of cryptic splice sites. (12393540)
2002
17
Molecular mechanisms of hypo- and afibrinogenemia. (11460528)
2001
18
Recurrent spontaneous intracerebral hematoma in a patient with afibrinogenemia. (9459359)
1998
19
Congenital afibrinogenemia: successful prevention of recurrent hemoperitoneum during ovulation by oral contraceptive. (7639293)
1995
20
Association of congenital afibrinogenemia and K-dependent protein C deficiency--a case report. (8357104)
1993
21
Perioperative management of a patient with congenital afibrinogenemia. (15235972)
1990
22
Prophylactic cryoprecipitate in congenital afibrinogenemia. (3180628)
1988
23
Congenital afibrinogenemia: an unusual case. (3997502)
1985
24
Severe ovarian hemorrhage in congenital afibrinogenemia. (7282313)
1981
25
Platelet adhesiveness and aggregation in congenital afibrinogenemia. An investigation of three patients with post-transfusion, cross-correction studies between two of them. (1111662)
1975
26
The induction of afibrinogenemia by Echis colorata snake bite. (4854881)
1974
27
A report of a case of congenital afibrinogenemia. (5058707)
1972
28
Fibrinogen and platelets in the primary arrest of bleeding. Studies in two patients with congenital afibrinogenemia. (5556576)
1971
29
Afibrinogenemia in man following the bite of a rattlesnake (Crotalus adamanteus). (5822979)
1969
30
Fibrinolysis and afibrinogenemia. (5946526)
1966
31
AFIBRINOGENEMIA SECONDARY TO PULMONARY AMNIOTIC FLUID EMBOLISM. (14147168)
1964
32
Fibrinolysis and afibrinogenemia in thoracic surgery. (13976412)
1963
33
Afibrinogenemia in pregnancy. (14491459)
1962
34
Afibrinogenemia and thrombocytopenia in guinea pigs following injection of Echis colorata venom. (13973470)
1962
35
Fibrinogen determinations and afibrinogenemia. (13626980)
1959
36
Amniotic fluid embolism, afibrinogenemia, and disseminated fibrin thrombosis; case report and review of the literature. (13394611)
1957
37
Afibrinogenemia; discussion. (13449604)
1957
38
Separation of the placenta, with post-partum hemorrhage, afibrinogenemia and renal failure. (13493706)
1957
39
Acute afibrinogenemia following elective cesarean section; report of a case. (13288967)
1956
40
Fibrinemboli of the lungs with afibrinogenemia after cesarean section, without the presence of amniotic epithelial squames. (13381142)
1956
41
Current concepts of afibrinogenemia in pregnancy. (13272002)
1955
42
Afibrinogenemia as a cause of hemorrhage in pregnancy. (13234921)
1955
43
Afibrinogenemia; report of a case associated with long-standing fetal death in utero and Rh isosensitization. (13254056)
1955
44
Congenital afibrinogenemia; report on a child without fibrinogen and review of the literature. (13206384)
1954
45
Afibrinogenemia in pregnancy. (13210916)
1954
46
Afibrinogenemia in pregnancy: diagnosis and treatment. (13109487)
1953
47
Intravascular clotting and afibrinogenemia, the presumptive lethal factors in the syndrome of amniotic fluid embolism. (13080342)
1953
48
Studies on afibrinogenemia. II. The defibrinating effect on dog blood of intravenous injection of thromboplastic material. (14830934)
1951
49
Congenital afibrinogenemia. (14848515)
1951
50
Afibrinogenemia occurring in a case of malignancy of the prostate with bone metastases. (18127877)
1949

Genetic Variations for Afibrinogenemia

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Afibrinogenemia:

63
id Symbol AA change Variation SNP ID
1FGBp.Arg196CysVAR_016908
2FGBp.Leu383ArgVAR_016909
3FGBp.Gly430AspVAR_016910

Expression for genes affiliated with Afibrinogenemia

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

Search GEO for disease gene expression data for Afibrinogenemia.

Pathways for genes affiliated with Afibrinogenemia

Sources:
12EMD Millipore, 54Reactome, 30KEGG, 50PharmGKB, 52QIAGEN, 38NCBI BioSystems Database, 53R&D Systems
See all sources

Pathways related to Afibrinogenemia according to GeneCards/GeneDecks:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Cell adhesion ECM remodeling
Hide members
9.8FGG, FGA, FGB
29.8FGB, FGA, FGG
3
Hide members
9.7CFP, C3
49.5C3, CFI, FGG
5
Hide members
9.5F2, FGG, FGA, FGB
6
Hide members
9.5VWF, FGG, FGA, FGB
7
Hide members
9.5FGB, FGA, FGG, VWF
8
Hide members
9.4F2, F3, F10
9
Hide members
9.2FGB, FGA, FGG, VWF, F2
109.2FGB, FGA, FGG, VWF, F2
11
Hide members
9.0CD46, CFI, CFP, C3
12
Hide members
8.9FGB, FGA, FGG, F3, VWF, F2
13
Hide members
8.7CD46, CFP, SRSF1, C3
14
Immune response Lectin induced complement pathway
Hide members
8.7CR1, CD46, CFI, CFP, C3
15
Hide members
8.1F11, F10, F5, F8
16
Hide members
8.0F8, F5, FGB, FGA, FGG, VWF
17
Hide members
7.9F5, F2, F3, FGG, FGA, FGB
18
Hide members
6.9F8, F5, F10, F11, FGB, FGA
19
Hide members
6.6FGG, FGA, FGB, F11, F10, F5
20
Hide members
5.1C3, CFI, F2, VWF, F3, FGG

Compounds for genes affiliated with Afibrinogenemia

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 2BitterDB, 60Tocris Bioscience, 29IUPHAR
See all sources

Compounds related to Afibrinogenemia according to GeneCards/GeneDecks:

(show top 50)    (show all 141)
idCompoundScoreTop Affiliating Genes
1warfarin45 50 11 2413.4FGA, VWF
2cardiolipin45 1111.3F10
3coumarins4510.0F10, F3
4hemochron459.9F3, F2, FGA
5desirudin459.3F10, F3, FGA
6tirofiban45 1110.3VWF, F3, F10, F2
7batroxobin459.3F5, FGB, FGA, F2
8hydroxyethyl starch459.3F8, F3, VWF, F2
9ppack459.3F10, FGA, VWF, F2, F3
10tranexamic acid45 1110.3F2, F3, F8, VWF
11Coagulation Factor IX119.1F2, F11, F10, F8
12ancrod459.0F10, F2, F5, FGA
13ecarin459.0F2, F3, F10, F5
14spectrozyme459.0F5, F2, F3, F10
15danaparoid459.0F3, F10, F2, F5
16ximelagatran45 119.9F5, F10, F3, F2
17heparinoids458.9F5, F10, F3, F2
18fondaparinux458.9F3, F5, F10, F2
19protamine sulfate458.9F5, F10, F3, F2
20inogatran458.8F3, F5, F2
21bivalirudin45 119.8F3, F5, FGA, F10, F2
22argatroban45 119.8F5, F10, FGA, F3, F2
23coumarin45 2 50 2411.7F2, F3, FGA, F10, F5
24protamine458.7FGA, F5, F3, F2, F10
25dextran sulfate458.7F11, F10, F5, CFP
26gamma-carboxyglutamic acid458.6F10, F2, F3, F5
27rfviii458.6VWF, F10, F5, F8
28kininogen458.6F5, F11, F3, VWF, F2, CFI
29hind iii458.4F8, CR1, F5, CD46
30cacl2458.4FGA, F3, F10, F5, F8
31kaolin458.4F8, F3, F10, F5, F2
32aprotinin45 119.4VWF, F3, FGA, F11, F10, F5
33dermatan sulfate458.3F3, VWF, F10, F5, F2, F11
34ristocetin458.3F2, F8, F11, F3, VWF, F5
35desmopressin45 60 29 1111.2F2, F8, F5, F11, VWF, F3
36homocysteine45 249.1F8, VWF, F3, F5, F11, F2
37endotoxin458.1F5, F3, FGA, F11, CR1, F8
38acetaminophen45 2 50 11 2412.1VWF, F8, F5, F10, F2
39citrate458.0VWF, F2, F5, F8, F3, F10
40epinephrine45 11 249.9F8, FGA, F3, F2, VWF, F5
41phosphatidylserine45 29 119.9F2, F8, F5, F10, F3, VWF
42aspirin45 50 29 2410.8F10, F3, F2, FGA, F5, VWF
43heparin45 29 11 2410.8F8, CFP, C3, CFI, FGA, F11
44serine457.8SRSF1, CD46, F11, F10, FGA, F8
45creatinine457.6CFI, F2, VWF, F3, C3, F8
46hirudin457.3VWF, F3, FGA, FGB, F11, F10
47lactate457.3F2, VWF, FGA, C3, F8, F10
48polysaccharide457.1CR1, F8, F5, CFP, CD46, C3
49phospholipid456.9F5, C3, F2, VWF, F10, CR1
50fibrinogen456.3F2, F10, CFI, VWF, F3, FGG

GO Terms for genes affiliated with Afibrinogenemia

Sources:
16Gene Ontology
See all sources

Cellular components related to Afibrinogenemia according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:07256210.0FGG, FGB
2fibrinogen complexGO:0055779.9FGB, FGA, FGG
3cell cortexGO:0059389.8FGB, FGA, FGG
4platelet alpha granuleGO:0310919.7VWF, FGG, FGA, FGB
5intrinsic to external side of plasma membraneGO:0312339.6F3, F10
6external side of plasma membraneGO:0098979.2FGG, FGA, FGB, VWF
7cell surfaceGO:0099868.8FGB, CR1, CD46, FGA, FGG, F3
8platelet alpha granule lumenGO:0310938.3VWF, F8, F5, FGB, FGG, FGA
9extracellular spaceGO:0056156.6CFP, CFI, F2, F3, FGG, FGA
10extracellular regionGO:0055766.0F2, CFI, CFP, F8, VWF, FGG
11plasma membraneGO:0058865.9F8, CR1, F5, F10, CD46, FGB

Biological processes related to Afibrinogenemia according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1protein polymerizationGO:0512589.9FGB, FGA, FGG
2response to calcium ionGO:0515929.9FGG, FGA, FGB
3blood coagulation, extrinsic pathwayGO:0075989.7F10, F3
4complement activation, alternative pathwayGO:0069579.7C3, CFP
5peptidyl-glutamic acid carboxylationGO:0171879.4F2, F10
6complement activation, classical pathwayGO:0069589.2C3, CFI, CD46, CR1
7regulation of complement activationGO:0304498.9CR1, CD46, CFI, CFP, C3
8proteolysisGO:0065088.7CFI, F2, CD46, F11, F10
9blood coagulation, intrinsic pathwayGO:0075978.6F8, F10, F11, VWF, F2
10innate immune responseGO:0450878.6CR1, CD46, CFI, CFP, C3
11platelet degranulationGO:0025768.3F8, F5, FGB, FGA, FGG, VWF
12platelet activationGO:0301688.0F8, F5, FGB, FGA, FGG, VWF
13blood coagulationGO:0075966.9F2, F8, F5, F10, F11, FGB

Molecular functions related to Afibrinogenemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein binding, bridgingGO:0306749.8FGG, FGA, FGB
2receptor bindingGO:0051029.0C3, F2, FGG, FGA, FGB
3serine-type endopeptidase activityGO:0042528.8F10, F11, F2, CFI

Products for genes affiliated with Afibrinogenemia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Afibrinogenemia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet