MCID: AFB002
MIFTS: 38

Afibrinogenemia, Congenital malady

Genetic diseases, Rare diseases, Blood diseases categories

Aliases & Classifications for Afibrinogenemia, Congenital

About this section

Aliases & Descriptions for Afibrinogenemia, Congenital:

Name: Afibrinogenemia, Congenital 46 9
Congenital Afibrinogenemia 8 21 10 44
Afibrinogenemia 21 61
Hereditary Factor I Deficiency Disease 61
Complement Factor I Deficiency 61
 
Hypofibrinogenemia, Congenital 46
Familial Afibrinogenemia 21
Fibrinogen Deficiency 8
Factor I Deficiency 8


Classifications:



External Ids:

OMIM46 202400
Disease Ontology8 DOID:2236
MeSH33 D000347
NCIt39 C26692

Summaries for Afibrinogenemia, Congenital

About this section
OMIM:46 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 afibrinogenemia and dysfibrinogenemia, and has symptoms including autosomal recessive inheritance, abnormal bleeding and hypofibrinogenemia. An important gene associated with Afibrinogenemia, Congenital is FGB (fibrinogen beta chain), and among its related pathways are Development Angiotensin activation of ERK and Collagen biosynthesis and modifying enzymes. The compounds batroxobin and heparin have been mentioned in the context of this disorder. Affiliated tissues include spleen, brain and liver.

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 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

About this section

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 54)
idRelated DiseaseScoreTop Affiliating Genes
1afibrinogenemia30.4FGG, FGA, FGB
2dysfibrinogenemia30.3FGA
3pulmonary embolism29.9FGA, FGB
4myocardial infarction29.9FGA, FGB
5complement factor i deficiency10.7
6insulin-like growth factor i10.6
7growth retardation with deafness and mental retardation due to igf1 deficiency10.6
8fibrinogen deficiency, congenital10.4
9fga-related congenital afibrinogenemia10.3
10fgb-related congenital afibrinogenemia10.3
11fgg-related congenital afibrinogenemia10.3
12protein c deficiency10.2
13spinal cord infarction10.2
14prostatitis10.2
15meningitis10.2
16hemangioma10.2
17thrombocytopenia10.2
18giant hemangioma10.2
19bacteremia10.1
20marfan syndrome10.1
21cerebral hemorrhage10.1
22hemopneumothorax10.1
23von willebrand's disease10.1
24cerebritis10.1
25corpus luteum cyst10.1
26arthropathy10.1
27cellulitis10.1
28osteomyelitis10.1
29periodontitis10.1
30peritonitis10.1
31hemophilia10.1
32thrombophilia10.1FGA
33systemic lupus erythematosus10.0
34complement factor h deficiency10.0
35aseptic meningitis10.0
36immune-complex glomerulonephritis10.0
37amyloidosis10.0
38encephalitis10.0
39lupus erythematosus10.0
40pneumonia10.0
41vasculitis10.0
42neisseria meningitidis infection10.0
43glomerulonephritis10.0
44crescentic glomerulonephritis10.0
45cholestasis10.0
46hypobetalipoproteinemia10.0
47dysfibrinogenemia, congenital10.0
48hepatitis10.0
49thrombotic thrombocytopenic purpura10.0
50leukocoria10.0

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



Diseases related to afibrinogenemia, congenital

Symptoms for Afibrinogenemia, Congenital

About this section

Symptoms by clinical synopsis from OMIM:

202400

Clinical features from OMIM:

202400

HPO human phenotypes related to Afibrinogenemia, Congenital:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 abnormal bleeding HP:0001892
3 hypofibrinogenemia HP:0011900
4 splenic rupture HP:0012223

Drugs & Therapeutics for Afibrinogenemia, Congenital

About this section

Drug clinical trials:

Search ClinicalTrials for Afibrinogenemia, Congenital

Search NIH Clinical Center for Afibrinogenemia, Congenital

Genetic Tests for Afibrinogenemia, Congenital

About this section

Anatomical Context for Afibrinogenemia, Congenital

About this section

MalaCards organs/tissues related to Afibrinogenemia, Congenital:

31
Spleen, Brain, Liver, Skin, Tongue

Animal Models for Afibrinogenemia, Congenital or affiliated genes

About this section

Publications for Afibrinogenemia, Congenital

About this section

Variations for Afibrinogenemia, Congenital

About this section

UniProtKB/Swiss-Prot genetic disease variations for Afibrinogenemia, Congenital:

63
id Symbol AA change Variation ID SNP ID
1FGBp.Arg196CysVAR_016908
2FGBp.Leu383ArgVAR_016909
3FGBp.Gly430AspVAR_016910
4FGBp.Leu202GlnVAR_072620

Expression for genes affiliated with Afibrinogenemia, Congenital

About this section
Search GEO for disease gene expression data for Afibrinogenemia, Congenital.

Pathways for genes affiliated with Afibrinogenemia, Congenital

About this section

Pathways related to Afibrinogenemia, Congenital according to GeneCards Suite gene sharing:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Development EDNRB signaling59
Development ACM2 and ACM4 activation of ERK59
Cell adhesion Integrin inside out signaling59
Development G Proteins mediated regulation MARK ERK signaling59
Signal transduction IP3 signaling59
Development Angiotensin signaling via PYK259
Development EPO induced MAPK pathway59
8.5FGB, FGA, FGG
2
Show member pathways
8.5FGG, FGA, FGB
3
Show member pathways
8.5FGG, FGA, FGB
4
Show member pathways
8.5FGB, FGA, FGG
5
Show member pathways
8.5FGB, FGA, FGG
6
Show member pathways
Metalloproteases in connective tissue degradation
8.5FGG, FGA, FGB
7
Show member pathways
8.5FGG, FGA, FGB
88.5FGG, FGA, FGB
9
Show member pathways
8.5FGB, FGA, FGG
108.5FGG, FGA, FGB
118.5FGB, FGA, FGG
12
Show member pathways
Complement Activation, Classical Pathway36
Complement and Coagulation Cascades36
8.5FGG, FGA, FGB
13
Show member pathways
8.5FGB, FGA, FGG

Compounds for genes affiliated with Afibrinogenemia, Congenital

About this section
Sources:
44Novoseek, 28IUPHAR, 24HMDB, 11DrugBank
See all sources

Compounds related to Afibrinogenemia, Congenital according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1batroxobin449.1FGB, FGA
2heparin44 28 24 1112.0FGB, FGA
3hirudin448.9FGB, FGA
4nacl448.7FGB, FGA
5sucralfate44 119.7FGB, FGA, FGG
6rsai448.6FGB, FGA, FGG
7fibrinogen448.5FGG, FGA, FGB

GO Terms for genes affiliated with Afibrinogenemia, Congenital

About this section

Cellular components related to Afibrinogenemia, Congenital according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1fibrinogen complexGO:00055778.7FGB, FGA, FGG
2platelet alpha granuleGO:00310918.7FGB, FGA, FGG
3platelet alpha granule lumenGO:00310938.7FGG, FGA, FGB
4cell cortexGO:00059388.7FGB, FGA, FGG
5blood microparticleGO:00725628.6FGB, FGA, FGG
6external side of plasma membraneGO:00098978.6FGG, FGA, FGB
7cell surfaceGO:00099868.5FGB, FGA, FGG
8plasma membraneGO:00058868.5FGB, FGA, FGG
9extracellular spaceGO:00056158.4FGG, FGA, FGB
10extracellular regionGO:00055768.2FGB, FGA, FGG

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1protein polymerizationGO:00512588.7FGB, FGA, FGG
2response to calcium ionGO:00515928.6FGG, FGA, FGB
3platelet degranulationGO:00025768.6FGB, FGA, FGG
4platelet activationGO:00301688.5FGG, FGA, FGB
5signal transductionGO:00071658.5FGB, FGA, FGG
6extracellular matrix organizationGO:00301988.4FGB, FGA, FGG
7blood coagulationGO:00075968.2FGG, FGA, FGB

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

idNameGO IDScoreTop Affiliating Genes
1receptor bindingGO:00051028.5FGB, FGA, FGG
2protein binding, bridgingGO:00306748.2FGB, FGA, FGG

Sources for Afibrinogenemia, Congenital

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet