MCID: DYS026
MIFTS: 45

Dysfibrinogenemia malady

Categories: Rare diseases, Genetic diseases, Blood diseases

Aliases & Classifications for Dysfibrinogenemia

Aliases & Descriptions for Dysfibrinogenemia:

Name: Dysfibrinogenemia 50 29 52 69
Dysfibrinogenemia, Congenital 69
Congenital Dysfibrinogenemia 50
Dysfibrinogenemia, Familial 50
Familial Dysfibrinogenemia 50

Classifications:



Summaries for Dysfibrinogenemia

NIH Rare Diseases : 50 dysfibrinogenemia is a coagulation (clotting) disorder characterized by having an abnormal form of fibrinogen. fibrinogen is a protein produced by the liver which helps control bleeding by helping blood clots to form. having abnormal fibrinogen results in defective clot formation and can cause an increased or decreased ability to clot. dysfibrinogenemias may be inherited (congenital) or acquired. congenital dysfibrinogenemia is rare. about 40% of people with this form have no symptoms. about 50% have a bleeding disorder, and the remaining 10% have either a thrombotic disorder (excessive clotting) or both bleeding and thrombotic disorders. congenital dysfibrinogenemias may be caused by mutations in the fga, fgb or fgg genes. inheritance is most often autosomal dominant or codominant, but can also be autosomal recessive. whether a person has no symptoms, a bleeding tendency, or an increased risk of thrombosis depends on the effect of their specific mutation(s). most people with dysfibrinogenemia have no symptoms and don't need treatment. for the remainder, treatment is individualized and depends on the symptoms and severity in each person. acquired dysfibrinogenemia is more common than the congenital form and is associated with liver disease such as cirrhosis, liver tumors, or hepatitis. last updated: 7/14/2016

MalaCards based summary : Dysfibrinogenemia, also known as dysfibrinogenemia, congenital, is related to afibrinogenemia, congenital and dysfibrinogenemia, congenital, and has symptoms including venous thrombosis, gastrointestinal hemorrhage and epistaxis. An important gene associated with Dysfibrinogenemia is FGA (Fibrinogen Alpha Chain), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Development Angiotensin activation of ERK. The drugs Factor VIII and Fibrinolytic Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and bone, and related phenotypes are cardiovascular system and homeostasis/metabolism

Wikipedia : 71 The dysfibrinogenemias are a group of autosomal dominant disorders of qualitatively abnormal... more...

Related Diseases for Dysfibrinogenemia

Diseases in the Dysfibrinogenemia family:

Dysfibrinogenemia, Congenital

Diseases related to Dysfibrinogenemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 142)
id Related Disease Score Top Affiliating Genes
1 afibrinogenemia, congenital 31.5 FGA FGB FGG
2 dysfibrinogenemia, congenital 12.3
3 stt3a-cdg and stt3b-cdg 10.2 F5 SERPINC1
4 cataract 10.2 ALB SERPINC1
5 myosclerosis, congenital 10.2 F5 SERPINC1
6 thrombosis 10.2
7 nondystrophic myotonia 10.2 ALB F2
8 neuronopathy, distal hereditary motor, type iid 10.2 F5 SERPINC1
9 congenital insensitivity to pain with severe intellectual disability 10.2 F2 F5
10 pharynx carcinoma in situ 10.1 ALB F2
11 lubinsky syndrome 10.1 F2 F5
12 supraumbilical midabdominal raphe and facial cavernous hemangiomas 10.1 F2 F5
13 female infertility of uterine origin 10.1 ALB F2
14 oxyphilic adenoma 10.1 F2 F5
15 bile duct cystadenocarcinoma 10.1 ALB F2
16 hendra virus infection 10.1 F2 F5
17 stroke, ischemic 10.1 F2 F5
18 hypertrichosis 10.1 F5 FGA SERPINC1
19 duane retraction syndrome 10.1 ALB F2
20 miller-dieker lissencephaly syndrome 10.1 F2 SERPINC1
21 chronic inflammatory demyelinating polyneuritis 10.1 ALB F2
22 photosensitive epilepsy 10.1 F2 F5
23 influenza 10.1 F2 SERPINC1
24 mixed epithelial tumor of ovary 10.1 F2 SERPINC1
25 chorioretinal scar 10.1 F2 SERPINC1
26 mixed hepatoblastoma 10.1 F2 SERPINC1
27 rectal prolapse 10.1 F13A1 F5
28 may-hegglin anomaly 10.1 F2 SERPINC1
29 scn8a-related epilepsy with encephalopathy 10.1 F13A1 F2
30 inherited blood coagulation disease 10.1 F13A1 F5
31 unverricht-lundborg syndrome 10.1 FGB PLAT
32 exophthalmic ophthalmoplegia 10.1 ALB F5 SERPINC1
33 dmd-related dilated cardiomyopathy 10.1 F2 SERPINC1
34 citrulline transport defect 10.1 F2 FGA FGB
35 fletcher factor deficiency 10.1 F2 F5
36 chronic tic disorder 10.1 ALB F5 SERPINC1
37 spinal cord lipoma 10.1 F2 SERPINC1
38 midline cystocele 10.1 F2 SERPINC1
39 schwannoma of jugular foramen 10.1 F2 SERPINC1
40 bladder hepatoid adenocarcinoma 10.1 F5 THBD
41 benign deep fibrous histiocytoma 10.0 ALB F2 FGB
42 cerebellar astrocytoma 10.0 F2 SERPINC1
43 periosteal chondrosarcoma 10.0 F2 SERPINC1
44 myotonic dystrophy 10.0 F2 F5
45 brazilian hemorrhagic fever 10.0 PLAT SERPINC1
46 czech dysplasia 10.0 F5 SERPINC1 THBD
47 mental retardation hypotonia skin hyperpigmentation 10.0 F5 SERPINC1 THBD
48 liver disease 10.0
49 melorheostosis 10.0 PLAT SERPINC1
50 immunodeficiency 32a, mycobacteriosis, autosomal dominant 10.0 PLAT THBD

Graphical network of the top 20 diseases related to Dysfibrinogenemia:



Diseases related to Dysfibrinogenemia

Symptoms & Phenotypes for Dysfibrinogenemia

Human phenotypes related to Dysfibrinogenemia:

32
id Description HPO Frequency HPO Source Accession
1 venous thrombosis 32 HP:0004936
2 gastrointestinal hemorrhage 32 HP:0002239
3 epistaxis 32 HP:0000421
4 gingival bleeding 32 HP:0000225

MGI Mouse Phenotypes related to Dysfibrinogenemia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.1 F13A1 F2 F5 FGA FGB FGG
2 homeostasis/metabolism MP:0005376 9.96 SERPINC1 SERPIND1 THBD ALB F13A1 F2
3 hematopoietic system MP:0005397 9.92 F13A1 F2 FGA FGG PLAT SERPINC1
4 embryo MP:0005380 9.85 F2 F5 FGA FGG SERPINC1 THBD
5 mortality/aging MP:0010768 9.65 ALB F13A1 F2 F5 FGA FGG
6 liver/biliary system MP:0005370 9.55 F5 FGA SERPINC1 ALB THBD
7 reproductive system MP:0005389 9.23 F13A1 F2 FGA FGB FGG PLAT

Drugs & Therapeutics for Dysfibrinogenemia

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Factor VIII
2 Fibrinolytic Agents
3 Anticoagulants

Interventional clinical trials:


id Name Status NCT ID Phase
1 Fibrinogen Early In Severe Trauma studY Recruiting NCT02745041 Phase 2
2 Ex Vivo Laboratory Assays Application for Therapy Tailoring in Patients With Severe Bleeding Disorders Unknown status NCT02324517

Search NIH Clinical Center for Dysfibrinogenemia

Genetic Tests for Dysfibrinogenemia

Genetic tests related to Dysfibrinogenemia:

id Genetic test Affiliating Genes
1 Dysfibrinogenemia 29

Anatomical Context for Dysfibrinogenemia

MalaCards organs/tissues related to Dysfibrinogenemia:

39
Liver, Testes, Bone, Kidney, Bone Marrow

Publications for Dysfibrinogenemia

Articles related to Dysfibrinogenemia:

(show top 50) (show all 156)
id Title Authors Year
1
Dysfibrinogenemia-associated novel heterozygous mutation, Shanghai (FGA c.169_180+2 del), leads to N-terminal truncation of fibrinogen AI+ chain and impairs fibrin polymerization. ( 27555433 )
2016
2
Three cases of congenital dysfibrinogenemia in unrelated Chinese families: heterozygous missense mutation in fibrinogen alpha chain Argl6His. ( 27684817 )
2016
3
A novel mutation in the fibrinogen AI+ chain (Gly13Arg, fibrinogen Nanning) causes congenital dysfibrinogenemia associated with defective peptide A release. ( 27933517 )
2016
4
Dysfibrinogenemia with Subgaleal Hematoma: An Unusual Presentation. ( 27408401 )
2016
5
[Analysis of a family with congenital dysfibrinogenemia caused by an Arg275His mutation in the gamma chain of fibrinogen]. ( 27060305 )
2016
6
Acquired Dysfibrinogenemia Caused by Autoantibody Inhibiting Fibrin Polymerization in a Patient with MELAS Syndrome and Bleeding Tendency. ( 27993886 )
2016
7
Management of pregnancy in dysfibrinogenemia cases: a dilemma. ( 26757015 )
2016
8
Molecular characterization of 7 patients affected by dys- or hypo-dysfibrinogenemia: Identification of a novel mutation in the fibrinogen Bbeta chain causing a gain of glycosylation. ( 26006300 )
2015
9
Novel heterozygous dysfibrinogenemia, Sumida (AI+C472S), showed markedly impaired lateral aggregation of protofibrils and mildly lower functional fibrinogen levels. ( 25613923 )
2015
10
Dysfibrinogenemia in a patient undergoing artificial abortion after misdiagnosis and review of the literature. ( 26057201 )
2015
11
Coexisting congenital dysfibrinogenemia with a novel mutation in fibrinogen I^ chain (I^322 Phea89Ile, Fibrinogen Beijing) and haemophilia B in a family. ( 25982359 )
2015
12
Clinical features and molecular basis of 102 Chinese patients with congenital dysfibrinogenemia. ( 26460252 )
2015
13
Two symptomatic cases of dysfibrinogenemia in China: one with gamma-chain Arg275Cys mutation and another without detectable mutation in fibrinogen genes. ( 25828970 )
2015
14
Congenital Dysfibrinogenemia, An Unusual Cause for Subdural Hematoma in an Infant. ( 26524418 )
2015
15
Thromboelastography predicts risks of obstetric complication occurrence in (hypo)dysfibrinogenemia patients under non-pregnant state. ( 26510121 )
2015
16
Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management. ( 25816717 )
2015
17
A dysfibrinogenemia leading to resistance to bovine thrombin. ( 25103594 )
2014
18
Fibrinogen Hangzhou: congenital dysfibrinogenemia caused by the novel missense mutation in FGG (I^308Asna89Thr). ( 24482809 )
2014
19
Congenital dysfibrinogenemia coincidentally diagnosed at the onset of chronic myelogenous leukemia. ( 24881919 )
2014
20
Natural history of patients with congenital dysfibrinogenemia. ( 25320241 )
2014
21
Use of purified fibrinogen concentrate for dysfibrinogenemia and importance of laboratory fibrinogen activity measurement. ( 23129109 )
2013
22
Fibrinogen Hangzhou: congenital dysfibrinogenemia caused by the novel missense mutation in FGG (I^308Asna89Thr). ( 24513323 )
2013
23
Successful living-related kidney transplantation in a boy with inherited dysfibrinogenemia. ( 23962069 )
2013
24
Chronic thromboembolic pulmonary hypertension-associated dysfibrinogenemias exhibit disorganized fibrin structure. ( 24182551 )
2013
25
Hypofibrinogenemia, dysfibrinogenemia or hypodysfibrinogenemia?: comment on 'The dilemma of inherited dysfibrinogenemia during pregnancy'. ( 23518794 )
2013
26
A case of acquired dysfibrinogenemia in multiple myeloma treated with therapeutic plasma exchange. ( 22842111 )
2013
27
The dilemma of inherited dysfibrinogenemia during pregnancy. ( 23135383 )
2012
28
Fibrinogen A umperk II: dysfibrinogenemia in an individual with two coding mutations. ( 22407772 )
2012
29
Lateral medullary syndrome in a boy with hereditary dysfibrinogenemia. ( 22449744 )
2012
30
Fibrinogen Tokushima II: a new case of congenital dysfibrinogenemia with a I^ methionine-310 to threonine substitution. ( 22836217 )
2012
31
Heterozygous BI^-chain C-terminal 12 amino acid elongation variant, BI^X462W (Kyoto VI), showed dysfibrinogenemia. ( 22001526 )
2012
32
Combined congenital dysfibrinogenemia and factor VII deficiency from mutations in the FGB and F7 genes. ( 22576285 )
2012
33
Bleeding tendency and prolonged wound healing in a patient with A alphaArg16His dysfibrinogenemia: fibrinogen Krakow IV. ( 22169505 )
2012
34
Acquired dysfibrinogenemia in atherosclerotic vascular disease. ( 21952526 )
2011
35
Congenital dysfibrinogenemia AI+ Gly13Glu associated with bleeding during pregnancy. ( 21112076 )
2011
36
Coexisting dysfibrinogenemia (gamma Arg275His) and FV Leiden associated with thrombosis (Fibrinogen Crete). ( 20546853 )
2010
37
Pancreatic pseudocyst-inferior vena cava fistula causing caval stenosis, left renal vein thrombosis, subcutaneous fat necrosis, arthritis and dysfibrinogenemia. ( 21090560 )
2010
38
[Inherited dysfibrinogenemia caused by Arg16His mutation in alpha chain of fibrinogen.]. ( 20510102 )
2010
39
Dysfibrinogenemia in childhood: two cases of congenital dysfibrinogens. ( 20829681 )
2010
40
Unexpected laboratory diagnosis: Acquired dysfibrinogenemia in a bleeding patient with liver disease. ( 21090055 )
2010
41
Comparison of the fibrinogen Clauss assay and the fibrinogen PT derived method in patients with dysfibrinogenemia. ( 20947138 )
2010
42
Inherited dysfibrinogenemia: clinical phenotypes associated with five different fibrinogen structure defects. ( 19923982 )
2010
43
Fibrinogen Krakow: a novel hypo/dysfibrinogenemia mutation in fibrinogen gamma chain (Asn325Ile) affecting fibrin clot structure and function. ( 19404553 )
2009
44
Fibrinogen Yecheon: congenital dysfibrinogenemia with gamma methionine-310 to threonine substitution. ( 19949684 )
2009
45
Analysis of plasmin generation and clot lysis of plasma fibrinogen purified from a heterozygous dysfibrinogenemia, BbetaGly15Cys (Hamamatsu II). ( 19809304 )
2009
46
Treatment of patients with dysfibrinogenemia and a history of abortions during pregnancy. ( 19357502 )
2009
47
High prevalence of dysfibrinogenemia among patients with chronic thromboembolic pulmonary hypertension. ( 19420351 )
2009
48
Two cases of congenital dysfibrinogenemia associated with thrombosis - Fibrinogen Praha III and Fibrinogen Plzen. ( 19718467 )
2009
49
A novel Asp344Val substitution in the fibrinogen gamma chain (fibrinogen Caen) causes dysfibrinogenemia associated with thrombosis. ( 18832913 )
2008
50
Acquired dysfibrinogenemia secondary to multiple myeloma. ( 18841003 )
2008

Variations for Dysfibrinogenemia

ClinVar genetic disease variations for Dysfibrinogenemia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FGA NM_000508.3(FGA): c.103C> T (p.Arg35Cys) single nucleotide variant Pathogenic rs121909606 GRCh37 Chromosome 4, 155510666: 155510666
2 FGA NM_000508.4(FGA): c.104G> A (p.Arg35His) single nucleotide variant Pathogenic rs121909607 GRCh37 Chromosome 4, 155510665: 155510665

Expression for Dysfibrinogenemia

Search GEO for disease gene expression data for Dysfibrinogenemia.

Pathways for Dysfibrinogenemia

Pathways related to Dysfibrinogenemia according to GeneCards Suite gene sharing:

(show all 13)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 ALB F13A1 F2 F5 FGA FGB
2
Show member pathways
12.59 F2 FGA FGB FGG
3
Show member pathways
12.58 F13A1 F2 F5 FGA FGB FGG
4
Show member pathways
12.02 ALB F2 PLAT
5
Show member pathways
11.98 FGA FGB FGG
6
Show member pathways
11.83 FGA FGB FGG
7 11.8 F13A1 F2 F5 FGA FGB FGG
8
Show member pathways
11.77 FGA FGB FGG
9 11.7 FGA FGB FGG
10
Show member pathways
11.7 F2 FGA FGB FGG
11
Show member pathways
11.53 F13A1 F2 F5 FGA FGB FGG
12 11.38 F2 FGA FGB FGG
13 11.31 FGA FGB FGG PLAT

GO Terms for Dysfibrinogenemia

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.85 FGA FGB FGG PLAT THBD
2 extracellular space GO:0005615 9.85 ALB F2 F5 FGA FGB FGG
3 endoplasmic reticulum lumen GO:0005788 9.8 ALB F2 F5 FGA FGG SERPINC1
4 external side of plasma membrane GO:0009897 9.78 F2 FGA FGB FGG
5 cell cortex GO:0005938 9.69 FGA FGB FGG
6 platelet alpha granule GO:0031091 9.62 F5 FGA FGB FGG
7 extracellular vesicle GO:1903561 9.61 F5 FGA FGB
8 fibrinogen complex GO:0005577 9.58 FGA FGB FGG
9 blood microparticle GO:0072562 9.5 ALB F13A1 F2 FGA FGB FGG
10 platelet alpha granule lumen GO:0031093 9.1 ALB F13A1 F5 FGA FGB FGG
11 extracellular exosome GO:0070062 10.1 ALB F2 FGA FGB FGG PLAT
12 extracellular region GO:0005576 10.07 ALB F13A1 F2 F5 FGA FGB

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

(show all 30)
id Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.93 ALB F5 FGA FGG SERPINC1 SERPIND1
2 cellular protein metabolic process GO:0044267 9.87 ALB F2 F5 FGA FGG SERPINC1
3 platelet degranulation GO:0002576 9.85 ALB F13A1 F5 FGA FGB FGG
4 platelet activation GO:0030168 9.83 F2 F5 FGA FGB FGG
5 extracellular matrix organization GO:0030198 9.82 FGA FGB FGG
6 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.82 FGA FGB FGG
7 cell-matrix adhesion GO:0007160 9.8 FGA FGB FGG
8 response to calcium ion GO:0051592 9.79 FGA FGB FGG
9 toll-like receptor signaling pathway GO:0002224 9.77 FGA FGB FGG
10 platelet aggregation GO:0070527 9.77 FGA FGB FGG
11 positive regulation of protein secretion GO:0050714 9.76 FGA FGB FGG
12 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.75 FGA FGB FGG
13 positive regulation of vasoconstriction GO:0045907 9.74 FGA FGB FGG
14 positive regulation of substrate adhesion-dependent cell spreading GO:1900026 9.73 FGA FGB FGG
15 negative regulation of endothelial cell apoptotic process GO:2000352 9.72 FGA FGB FGG
16 positive regulation of exocytosis GO:0045921 9.71 FGA FGB FGG
17 plasminogen activation GO:0031639 9.71 FGA FGB FGG PLAT
18 cellular protein complex assembly GO:0043623 9.7 FGA FGB FGG
19 protein polymerization GO:0051258 9.69 FGA FGB FGG
20 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.67 FGA FGB FGG
21 positive regulation of peptide hormone secretion GO:0090277 9.65 FGA FGB FGG
22 blood coagulation GO:0007596 9.65 F13A1 F2 F5 FGA FGB FGG
23 negative regulation of proteolysis GO:0045861 9.64 F2 PLAT
24 regulation of blood coagulation GO:0030193 9.63 F2 SERPINC1
25 negative regulation of fibrinolysis GO:0051918 9.62 F2 THBD
26 negative regulation of platelet activation GO:0010544 9.62 F2 THBD
27 induction of bacterial agglutination GO:0043152 9.61 FGA FGB
28 blood coagulation, fibrin clot formation GO:0072378 9.56 F13A1 FGA FGB FGG
29 fibrinolysis GO:0042730 9.55 F2 FGA FGB FGG PLAT
30 hemostasis GO:0007599 9.28 F13A1 F2 F5 FGA FGB FGG

Molecular functions related to Dysfibrinogenemia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.5 FGA FGB FGG
2 heparin binding GO:0008201 9.43 F2 SERPINC1 SERPIND1
3 protein binding, bridging GO:0030674 9.33 FGA FGB FGG
4 cell adhesion molecule binding GO:0050839 9.13 FGA FGB FGG
5 receptor binding GO:0005102 9.02 F2 FGA FGB FGG PLAT

Sources for Dysfibrinogenemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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