MCID: AFB001
MIFTS: 39

Afibrinogenemia malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Afibrinogenemia

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Aliases & Descriptions for Afibrinogenemia:

Name: Afibrinogenemia 45 47 24 65
Congenital Hypofibrinogenemia 65
 
Congenital Afibrinogenemia 45
Afibrinogenemia Congenital 45

Classifications:



External Ids:

UMLS65 C2584774

Summaries for Afibrinogenemia

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NIH Rare Diseases:45 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

MalaCards based summary: Afibrinogenemia, also known as congenital hypofibrinogenemia, is related to panic disorder and crohn's disease. An important gene associated with Afibrinogenemia is FGB (Fibrinogen Beta Chain), and among its related pathways are Cell adhesion_Plasmin signaling and Staphylococcus aureus infection. Affiliated tissues include heart, breast and liver, and related mouse phenotypes are hematopoietic system and immune system.

Related Diseases for Afibrinogenemia

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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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 298)
idRelated DiseaseScoreTop Affiliating Genes
1panic disorder29.9F5, F8
2crohn's disease29.8F5, VWF
3tendinopathy29.4F3, F5, VWF
4adenocarcinoma29.2F10, F2, F3, F5
5afibrinogenemia, congenital12.7
6fga-related congenital afibrinogenemia12.3
7fgb-related congenital afibrinogenemia12.3
8fgg-related congenital afibrinogenemia12.3
9hypoganglionosis10.4FGA, FGB, FGG
10peripheral motor neuropathy-dysautonomia syndrome10.4FGA, FGB, FGG
11amyloidosis, familial visceral10.4FGA, FGB, FGG
12stomatocytosis i10.4C3, CFP
13brain stem infarction10.4CR1, FGB
14scarlet fever10.4C3, F2
15dysfibrinogenemia, congenital10.4
16hemolytic uremic syndrome, atypical 510.3C3, CD46
17prolapse of female genital organ10.3CR1, F8
18angioedema10.3C3, CFP
19type 2n von willebrand disease10.3F8, VWF
20tyrobp-related polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy10.3F8, VWF
21acral dysostosis dyserythropoiesis syndrome10.3F8, VWF
22follicular dendritic cell sarcoma10.3C3, CFP
23type 2m von willebrand disease10.3F8, VWF
24central nervous system osteosarcoma10.3F2, F3
25esophagus melanoma10.3F2, F3
26epiglottitis10.3F2, F3
27cyclothymic disorder10.3F2, F3
28vaginal villous adenoma10.3F2, F3
29cavernous hemangioma of colon10.2F2, F3
30metaphyseal dysplasia10.2C3, F3
31silo filler's disease10.2F2, F3
32autoimmune hemolytic anemia, warm type10.2C3, CD46, CFI
33herpes gestationis10.2F2, F3
34breast cancer10.2
35abducens nerve neoplasm10.2F2, F3
36hypertrichosis10.2F2, F3
37hypersensitivity reaction type iii disease10.2CD46, CR1
38microcytic anemia10.2F2, F3
39pancreatoblastoma10.2F2, F8
40splenic abscess10.2F2, F3
41skull base meningioma10.2F2, F3
42neonatal adrenoleukodystrophy10.2C3, CD46, CFP
43newcastle disease10.2C3, CD46, CFP
44hepatitis10.2
45leukemia10.2
46lymphoblastic leukemia10.2
47retinitis10.2
48neuronitis10.2
49neuropathy10.2
50leishmaniasis10.2

Graphical network of the top 20 diseases related to Afibrinogenemia:



Diseases related to afibrinogenemia

Symptoms for Afibrinogenemia

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Drugs & Therapeutics for Afibrinogenemia

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Drugs for Afibrinogenemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1HemostaticsPhase 3, Phase 21082
2Immunosuppressive AgentsPhase 210422
3Immunologic FactorsPhase 218483
4Complement Inactivating AgentsPhase 271
5Complement Factor IPhase 236
6Complement System ProteinsPhase 2190

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1Human Fibrinogen Concentrate (FGTW) in Pediatric Patients With Congenital Fibrinogen DeficiencyCompletedNCT02094430Phase 2, Phase 3
2Haemocomplettan® P During Elective Complex Cardiac SurgeryCompletedNCT01124981Phase 2, Phase 3
3Study to Assess the Efficacy, Safety and Pharmacokinetic of Octafibrin in Paediatric Subjects With Fibrinogen DeficiencyRecruitingNCT02408484Phase 3
4Efficacy and Safety Study of Octafibrin for On-demand Treatment of Acute Bleeding and to Prevent Bleeding During and After SurgeryRecruitingNCT02267226Phase 3
5Fibrinogen Concentrate (Human) − Efficacy and Safety StudyWithdrawnNCT00916656Phase 3
6Pharmacokinetic, Efficacy, and Safety Study of Octafibrin Compared to Haemocomplettan/RiastapCompletedNCT01575756Phase 2
7Human Fibrinogen - PharmacokineticsCompletedNCT00496262Phase 2
8Pharmacokinetics, Efficacy, and Safety of Human Plasma-Derived Fibrinogen (FIB Grifols) in Patients With Congenital AfibrinogenaemiaRecruitingNCT02281500Phase 1, Phase 2
9Pharmacokinetic, Efficacy and Safety of BT524 in Patients With Congenital Fibrinogen DeficiencyActive, not recruitingNCT02065882Phase 1, Phase 2
10RiaSTAP vs. Conventional Transfusion in Patients Having Heart Valve SurgeryTerminatedNCT01283321Phase 2
11An 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

Genetic Tests for Afibrinogenemia

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Anatomical Context for Afibrinogenemia

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MalaCards organs/tissues related to Afibrinogenemia:

33
Heart, Breast, Liver, Monocytes, Skin, Lung, Prostate

Animal Models for Afibrinogenemia or affiliated genes

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MGI Mouse Phenotypes related to Afibrinogenemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053977.3C3, CFI, F11, F2, F3, F8
2MP:00053876.9C3, CFP, F11, F2, F3, F8
3MP:00053765.9C3, CFI, CFP, F10, F11, F2
4MP:00107685.6C3, CFP, F10, F11, F2, F3
5MP:00053855.4C3, CD46, CFP, F10, F11, F2

Publications for Afibrinogenemia

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Articles related to Afibrinogenemia:

(show top 50)    (show all 226)
idTitleAuthorsYear
1
Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood. (27084087)
2016
2
A New Hitherto Unreported Histopathologic Manifestation of Mammary Analogue Secretory Carcinoma: "Masked MASC" Associated With Low-grade Mucinous Adenocarcinoma and Low-grade In Situ Carcinoma Components. (26808131)
2016
3
Remodeling of extracellular matrix by normal and tumor-associated fibroblasts promotes cervical cancer progression. (25885552)
2015
4
Basal cell carcinoma arising from xeroderma pigmentosum: a case report and an immunohistochemical study. (23626541)
2013
5
A case of propylthiouracil-induced antineutrophilic cytoplasmic antibody-positive vasculitis successfully treated with radioactive iodine. (23884029)
2013
6
I^-Catenin and peroxisome proliferator-activated receptor-I' coordinate dynamic chromatin loops for the transcription of vascular endothelial growth factor A gene in colon cancer cells. (23086933)
2012
7
Large-scale analysis of tumor necrosis factor I+ levels in systemic lupus erythematosus. (22488302)
2012
8
Efficacy and safety of mitoxantrone in patients with highly relapsing neuromyelitis optica. (21149806)
2011
9
Pseudo-Bartter's syndrome revealing cystic fibrosis in an infant caused by 3849 + 1G>A and 4382delA compound heterozygosity. (21449922)
2011
10
Bernard-Soulier syndrome. (21357716)
2011
11
Primary pleuropulmonary synovial sarcoma. (21513626)
2010
12
Posttransplant bilioportal fistula with portal vein thrombosis: a case report. (21094871)
2010
13
Transient receptor potential melastatin 2 is required for lipopolysaccharide-induced cytokine production in human monocytes. (20107186)
2010
14
Physiological significance of selective degradation of p62 by autophagy. (20153326)
2010
15
Morphological peculiarities of endometrium in chronic endometritis associated with bacterial vaginosis. (20495228)
2010
16
Mesenchymal stem cells stimulate angiogenesis in a murine xenograft model of A549 human adenocarcinoma through an LPA1 receptor-dependent mechanism. (20708100)
2010
17
MMTV mouse models and the diagnostic values of MMTV-like sequences in human breast cancer. (19580428)
2009
18
Association of serum uric acid, plasma NT-proBNP, Hs-C reactive protein and invasive hemodynamic parameters in patients with heart failure]. (19719987)
2009
19
Tetrabenazine (Xenazine) for Huntington's chorea. (19172140)
2009
20
The enigmatic role of tafazzin in cardiolipin metabolism. (19619503)
2009
21
Longitudinal myelitis, aseptic meningitis, and conus medullaris infarction as presenting manifestations of pediatric systemic lupus erythematosus. (18413416)
2008
22
Central nervous system atypical teratoid rhabdoid tumor: experience at the National Institute of Pediatrics, Mexico City. (17876589)
2008
23
Molecular cloning and characterization of a putative lipopolysaccharide-induced TNF-alpha factor (LITAF) gene homologue from Zhikong scallop Chlamys farreri. (17408970)
2007
24
Genetic variation in S-nitrosoglutathione reductase (GSNOR) and childhood asthma. (17543375)
2007
25
Regional differences in astrocyte activation in HIV-associated dementia. (16715757)
2006
26
An association between type 1 diabetes and idiopathic generalized epilepsy. (16566023)
2006
27
Expression and purification of human antimicrobial peptide, dermcidin, in Escherichia coli. (16125410)
2006
28
Human Bub1 protects centromeric sister-chromatid cohesion through Shugoshin during mitosis. (15604152)
2004
29
High-throughput construction method for expression vector of peptides for NMR study suited for isotopic labeling. (15166312)
2004
30
Molecular analysis of the TSC1 gene in adenocarcinoma of the lung. (15541811)
2004
31
Genetic predisposition to acute gastrointestinal bleeding after NSAIDs use. (14707031)
2004
32
Prognostic significance of bcl-2, bax, and p53 expression in diffuse large B-cell lymphoma. (12749011)
2003
33
Acute disseminated encephalomyelitis. (12566545)
2003
34
Interleukin-8 receptor antagonists in pulmonary diseases. (11712746)
2001
35
Mitotic checkpoint protein hsMAD2 as a marker predicting liver metastasis of human gastric cancers. (11572763)
2001
36
Genetic basis of Darier-White disease: bad pumps cause bumps. (11179934)
2000
37
Angiolipoma of the finger masquerading as flexor tenosynovitis. (10654747)
1999
38
Neuroacanthocytosis masquerading as Huntington's disease: CT/MRI findings. (10436764)
1999
39
Vasopressin regulates adrenal functions by acting through different vasopressin receptor subtypes. (10026821)
1998
40
Histiocytic sarcoma of the spleen associated with hypoalbuminemia, hypo gamma-globulinemia and thrombocytopenia as a possibly unique clinical entity--report of three cases. (9720731)
1998
41
Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion. (9779806)
1998
42
Tumour promoter tert-butyl-hydroperoxide induces peroxynitrite formation in human erythrocytes. (8917415)
1996
43
Expression of p53 in early (T1) gastric carcinoma and precancerous adjacent mucosa. (7829004)
1994
44
The H2O2 induced effects on purine metabolism in human endothelial cells. (8138186)
1993
45
A tetrazolium-based colorimetric assay for quantification of HIV-1-induced cytopathogenicity in monocyte-macrophages exposed to macrophage-colony-stimulating factor. (1474134)
1992
46
Socioeconomic factors and race in breast cancer recurrence and survival. (1580237)
1992
47
Effect of acylation stimulating protein on the triacylglycerol synthetic pathway of human adipose tissue. (1943492)
1991
48
Cloning of the rat insulin-like growth factor-binding protein-2 gene and identification of a functional promoter lacking a TATA box. (1707131)
1990
49
Chemotherapy in metastatic male breast cancer. (4011106)
1985
50
Submucosal urethral calculus secondary to foxtail awn migration in a dog. (6345496)
1983

Variations for Afibrinogenemia

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Expression for genes affiliated with Afibrinogenemia

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Search GEO for disease gene expression data for Afibrinogenemia.

Pathways for genes affiliated with Afibrinogenemia

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Pathways related to Afibrinogenemia according to GeneCards Suite gene sharing:

(show all 14)
idSuper pathwaysScoreTop Affiliating Genes
19.8FGA, FGB, FGG
29.7C3, CFI, FGG
39.6F10, F2
49.3FGA, FGB, FGG, VWF
5
Show member pathways
9.3FGA, FGB, FGG, VWF
69.3FGA, FGB, FGG, VWF
7
Show member pathways
9.2C3, CD46, CFI, CR1
89.0F2, FGA, FGB, FGG, VWF
9
Show member pathways
9.0F2, FGA, FGB, FGG, VWF
10
Show member pathways
8.9C3, CD46, CFI, CFP, CR1
11
Show member pathways
6.9F10, F11, F2, F3, F5, F8
12
Show member pathways
6.4F10, F11, F2, F3, F5, F8
13
Show member pathways
6.4F10, F11, F2, F3, F5, F8
14
Show member pathways
5.1C3, CD46, CFI, CR1, F10, F11

GO Terms for genes affiliated with Afibrinogenemia

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

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:00725629.9FGA, FGB, FGG
2platelet alpha granule lumenGO:00310939.1F5, FGA, FGB, FGG, VWF
3endoplasmic reticulum lumenGO:00057889.0F10, F5, F8

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1complement activation, alternative pathwayGO:000695710.5C3, CFP
2positive regulation of heterotypic cell-cell adhesionGO:003411610.4FGA, FGB, FGG
3negative regulation of endothelial cell apoptotic processGO:200035210.3FGA, FGB, FGG
4fibrinolysisGO:004273010.3FGA, FGB, FGG
5negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:190204210.3FGA, FGB, FGG
6response to calcium ionGO:005159210.2FGA, FGB, FGG
7signal peptide processingGO:000646510.2F10, F2
8positive regulation of exocytosisGO:004592110.2FGA, FGB, FGG
9platelet activationGO:003016810.1FGA, FGB, FGG
10adaptive immune responseGO:000225010.0CD46, FGA, FGB
11regulation of complement activationGO:00304499.9C3, CD46, CFP
12complement activation, classical pathwayGO:00069589.8CD46, CFI, CR1
13platelet degranulationGO:00025769.7FGA, FGB, FGG, VWF
14plasminogen activationGO:00316399.5F11, FGA, FGB, FGG
15response to woundingGO:00096119.3F2, F3, VWF
16proteolysisGO:00065089.3C3, CD46, F11, F2
17response to estradiolGO:00323559.2C3, F3, FGA
18innate immune responseGO:00450879.1CD46, CFI, CFP, FGA, FGB
19post-translational protein modificationGO:00436879.0CFP, F10, F5, F8
20blood coagulationGO:00075968.8F10, F2, F5, F8, FGA
21cellular protein metabolic processGO:00442678.7F2, F5, F8, FGA

Sources for Afibrinogenemia

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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