MCID: DYS026
MIFTS: 51

Dysfibrinogenemia

Categories: Rare diseases, Blood diseases, Genetic diseases

Aliases & Classifications for Dysfibrinogenemia

MalaCards integrated aliases for Dysfibrinogenemia:

Name: Dysfibrinogenemia 49 28 51 69
Dysfibrinogenemia, Congenital 69
Congenital Dysfibrinogenemia 49
Dysfibrinogenemia, Familial 49
Familial Dysfibrinogenemia 49

Classifications:



External Ids:

Summaries for Dysfibrinogenemia

NIH Rare Diseases : 49 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 dysfibrinogenemia, congenital and chronic thromboembolic pulmonary hypertension, and has symptoms including gingival bleeding, epistaxis and gastrointestinal hemorrhage. 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 Collagen chain trimerization. The drugs Fibrinolytic Agents and Anticoagulants have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and testes, and related phenotypes are cardiovascular system and homeostasis/metabolism

Wikipedia : 72 The dysfibrinogenemias consist of three types of fibrinogen disorders in which a critical blood clotting... 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 150)
# Related Disease Score Top Affiliating Genes
1 dysfibrinogenemia, congenital 34.2 FGA FGB FGG
2 chronic thromboembolic pulmonary hypertension 30.5 FGA FGB
3 afibrinogenemia, congenital 29.8 F2 FGA FGB FGG PLAT SERPINC1
4 sagittal sinus thrombosis 29.4 F2 F5 SERPINC1
5 sneddon syndrome 29.4 F2 F5 SERPINC1
6 liver cirrhosis 29.3 ALB F2 SERPINC1
7 afibrinogenemia 28.9 F2 F5 FGA FGB FGG
8 placental abruption 28.9 F2 F5 SERPINC1 THBD
9 protein c deficiency 28.9 F2 F5 SERPINC1 THBD
10 thrombosis 28.8 F2 F5 PLAT SERPINC1 THBD
11 vascular disease 28.6 F5 PLAT SERPINC1 THBD
12 thrombophilia 26.3 F13A1 F2 F5 FGA FGG PLAT
13 burns 10.3 ALB SERPINC1
14 sticky platelet syndrome 10.3 F5 SERPINC1
15 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 10.3
16 antipyrine metabolism 10.2 ALB F2
17 factor xii deficiency 10.2 F5 SERPINC1
18 non-a-e hepatitis 10.2 ALB F2
19 abdominal tuberculosis 10.2 ALB F2
20 paracetamol poisoning 10.2 F2 F5
21 livedoid vasculopathy 10.2 F2 F5
22 cerebral sinovenous thrombosis 10.2 F2 F5
23 kwashiorkor 10.2 ALB F2
24 hepatic tuberculosis 10.2 ALB F2
25 hepatic coma 10.2 ALB F2
26 factor xiii deficiency 10.2 F13A1 F5
27 hemoglobin e disease 10.2 F2 F5
28 carotid artery occlusion 10.2 F5 THBD
29 priapism 10.2 F13A1 F5
30 cryptogenic cirrhosis 10.2 F2 F5
31 splenic disease 10.2 ALB F2
32 intracranial thrombosis 10.1 F5 FGA SERPINC1
33 ascending cholangitis 10.1 ALB F2
34 factor viii deficiency 10.1 F2 F5
35 porencephaly 10.1 F2 F5
36 intestinal impaction 10.1 F2 SERPINC1
37 blood protein disease 10.1 F2 SERPINC1
38 leech infestation 10.1 F2 SERPINC1
39 alpha-2-plasmin inhibitor deficiency 10.1 F2 SERPINC1
40 factor v deficiency 10.1 F2 F5
41 liver disease 10.1
42 giant hemangioma 10.1 F2 SERPINC1
43 blue toe syndrome 10.1 F2 SERPINC1
44 compartment syndrome 10.1 ALB F2
45 hepatorenal syndrome 10.1 ALB F2
46 anterior spinal artery syndrome 10.1 F2 SERPINC1
47 subendocardial myocardial infarction 10.1 F2 SERPINC1
48 severe pre-eclampsia 10.1 ALB F5 SERPINC1
49 purpura fulminans 10.1 F2 SERPINC1
50 choledocholithiasis 10.1 ALB F2

Graphical network of the top 20 diseases related to Dysfibrinogenemia:



Diseases related to Dysfibrinogenemia

Symptoms & Phenotypes for Dysfibrinogenemia

Human phenotypes related to Dysfibrinogenemia:

31
# Description HPO Frequency HPO Source Accession
1 gingival bleeding 31 hallmark (90%) HP:0000225
2 epistaxis 31 hallmark (90%) HP:0000421
3 gastrointestinal hemorrhage 31 hallmark (90%) HP:0002239
4 venous thrombosis 31 frequent (33%) HP:0004936

MGI Mouse Phenotypes related to Dysfibrinogenemia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.1 F5 SERPIND1 FGA THBD FGB FGG
2 homeostasis/metabolism MP:0005376 9.96 SERPINC1 F5 SERPIND1 FGA THBD ALB
3 hematopoietic system MP:0005397 9.92 F2 SERPINC1 SERPIND1 FGA THBD FGG
4 embryo MP:0005380 9.85 F2 SERPINC1 F5 FGA THBD FGG
5 mortality/aging MP:0010768 9.65 SERPINC1 F5 SERPIND1 FGA THBD ALB
6 liver/biliary system MP:0005370 9.55 SERPINC1 F5 FGA ALB THBD
7 reproductive system MP:0005389 9.23 SERPINC1 FGA THBD FGB FGG F13A1

Drugs & Therapeutics for Dysfibrinogenemia

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


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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Fibrinogen Early In Severe Trauma studY Recruiting NCT02745041 Phase 2 Fibrinogen Concentrate
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:

# Genetic test Affiliating Genes
1 Dysfibrinogenemia 28

Anatomical Context for Dysfibrinogenemia

MalaCards organs/tissues related to Dysfibrinogenemia:

38
Liver, Kidney, Testes, Bone, Bone Marrow

Publications for Dysfibrinogenemia

Articles related to Dysfibrinogenemia:

(show top 50) (show all 166)
# Title Authors Year
1
Clinical and molecular characterization of nine Chinese patients affected by hypofibrinogenemia or dysfibrinogenemia. ( 29351094 )
2018
2
Liver Transplantation in a Patient with Acquired Dysfibrinogenemia Who Presented with Subdural Hematoma: A Case Report. ( 28587999 )
2017
3
The amplitude of coagulation curves from thrombin time tests allows dysfibrinogenemia caused by the common mutation FGG-Arg301 to be distinguished from hypofibrinogenemia. ( 28318107 )
2017
4
Combined use of Clauss and prothrombin time-derived methods for determining fibrinogen concentrations: Screening for congenital dysfibrinogenemia. ( 28922493 )
2017
5
A novel fibrinogen variant: dysfibrinogenemia associated with I^Asp185Asn substitution. ( 28425010 )
2017
6
Acute renal artery infarction secondary to dysfibrinogenemia. ( 29122898 )
2017
7
Congenital dysfibrinogenemia in a Japanese family with fibrinogen Naples (BI^Ala68Thr) manifesting as superior sagittal sinus thrombosis. ( 28537987 )
2017
8
Treating a Patient of Dysfibrinogenemia with Acute Thromboembolism by Rivaroxaban and Cilostazol. ( 28824252 )
2017
9
Management of dysfibrinogenemia in pregnancy: A case report. ( 28948631 )
2017
10
A Chinese family with congenital Dysfibrinogenemia carries a heterozygous missense mutation in FGA: Concerning the genetic abnormality and clinical treatment. ( 29067075 )
2017
11
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
12
[Analysis of a family with congenital dysfibrinogenemia caused by an Arg275His mutation in the gamma chain of fibrinogen]. ( 27060305 )
2016
13
Management of pregnancy in dysfibrinogenemia cases: a dilemma. ( 26757015 )
2016
14
Dysfibrinogenemia with Subgaleal Hematoma: An Unusual Presentation. ( 27408401 )
2016
15
Acquired Dysfibrinogenemia Caused by Autoantibody Inhibiting Fibrin Polymerization in a Patient with MELAS Syndrome and Bleeding Tendency. ( 27993886 )
2016
16
A novel mutation in the fibrinogen AI+ chain (Gly13Arg, fibrinogen Nanning) causes congenital dysfibrinogenemia associated with defective peptide A release. ( 27933517 )
2016
17
Three cases of congenital dysfibrinogenemia in unrelated Chinese families: heterozygous missense mutation in fibrinogen alpha chain Argl6His. ( 27684817 )
2016
18
Two symptomatic cases of dysfibrinogenemia in China: one with gamma-chain Arg275Cys mutation and another without detectable mutation in fibrinogen genes. ( 25828970 )
2015
19
Congenital Dysfibrinogenemia, An Unusual Cause for Subdural Hematoma in an Infant. ( 26524418 )
2015
20
Dysfibrinogenemia in a patient undergoing artificial abortion after misdiagnosis and review of the literature. ( 26057201 )
2015
21
Thromboelastography predicts risks of obstetric complication occurrence in (hypo)dysfibrinogenemia patients under non-pregnant state. ( 26510121 )
2015
22
Clinical features and molecular basis of 102 Chinese patients with congenital dysfibrinogenemia. ( 26460252 )
2015
23
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
24
Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management. ( 25816717 )
2015
25
Novel heterozygous dysfibrinogenemia, Sumida (AI+C472S), showed markedly impaired lateral aggregation of protofibrils and mildly lower functional fibrinogen levels. ( 25613923 )
2015
26
Coexisting congenital dysfibrinogenemia with a novel mutation in fibrinogen I^ chain (I^322 Phea89Ile, Fibrinogen Beijing) and haemophilia B in a family. ( 25982359 )
2015
27
A dysfibrinogenemia leading to resistance to bovine thrombin. ( 25103594 )
2014
28
Fibrinogen Hangzhou: congenital dysfibrinogenemia caused by the novel missense mutation in FGG (I^308Asna89Thr). ( 24482809 )
2014
29
Congenital dysfibrinogenemia coincidentally diagnosed at the onset of chronic myelogenous leukemia. ( 24881919 )
2014
30
Natural history of patients with congenital dysfibrinogenemia. ( 25320241 )
2014
31
Hypofibrinogenemia, dysfibrinogenemia or hypodysfibrinogenemia?: comment on 'The dilemma of inherited dysfibrinogenemia during pregnancy'. ( 23518794 )
2013
32
Fibrinogen Hangzhou: congenital dysfibrinogenemia caused by the novel missense mutation in FGG (I^308Asna89Thr). ( 24513323 )
2013
33
A case of acquired dysfibrinogenemia in multiple myeloma treated with therapeutic plasma exchange. ( 22842111 )
2013
34
Use of purified fibrinogen concentrate for dysfibrinogenemia and importance of laboratory fibrinogen activity measurement. ( 23129109 )
2013
35
Chronic thromboembolic pulmonary hypertension-associated dysfibrinogenemias exhibit disorganized fibrin structure. ( 24182551 )
2013
36
Successful living-related kidney transplantation in a boy with inherited dysfibrinogenemia. ( 23962069 )
2013
37
Heterozygous BI^-chain C-terminal 12 amino acid elongation variant, BI^X462W (Kyoto VI), showed dysfibrinogenemia. ( 22001526 )
2012
38
Combined congenital dysfibrinogenemia and factor VII deficiency from mutations in the FGB and F7 genes. ( 22576285 )
2012
39
Fibrinogen Tokushima II: a new case of congenital dysfibrinogenemia with a I^ methionine-310 to threonine substitution. ( 22836217 )
2012
40
Fibrinogen A umperk II: dysfibrinogenemia in an individual with two coding mutations. ( 22407772 )
2012
41
Bleeding tendency and prolonged wound healing in a patient with A alphaArg16His dysfibrinogenemia: fibrinogen Krakow IV. ( 22169505 )
2012
42
Lateral medullary syndrome in a boy with hereditary dysfibrinogenemia. ( 22449744 )
2012
43
The dilemma of inherited dysfibrinogenemia during pregnancy. ( 23135383 )
2012
44
Congenital dysfibrinogenemia AI+ Gly13Glu associated with bleeding during pregnancy. ( 21112076 )
2011
45
Acquired dysfibrinogenemia in atherosclerotic vascular disease. ( 21952526 )
2011
46
Unexpected laboratory diagnosis: Acquired dysfibrinogenemia in a bleeding patient with liver disease. ( 21090055 )
2010
47
Inherited dysfibrinogenemia: clinical phenotypes associated with five different fibrinogen structure defects. ( 19923982 )
2010
48
Dysfibrinogenemia in childhood: two cases of congenital dysfibrinogens. ( 20829681 )
2010
49
[Inherited dysfibrinogenemia caused by Arg16His mutation in alpha chain of fibrinogen.]. ( 20510102 )
2010
50
Pancreatic pseudocyst-inferior vena cava fistula causing caval stenosis, left renal vein thrombosis, subcutaneous fat necrosis, arthritis and dysfibrinogenemia. ( 21090560 )
2010

Variations for Dysfibrinogenemia

ClinVar genetic disease variations for Dysfibrinogenemia:

6
# 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)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 ALB F13A1 F2 F5 FGA FGB
2
Show member pathways
12.58 F13A1 F2 F5 FGA FGB FGG
3
Show member pathways
12.56 F2 FGA FGB FGG
4
Show member pathways
12.03 ALB F2 PLAT
5
Show member pathways
11.99 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
11.52 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 11)
# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.85 FGA FGB FGG PLAT THBD
2 external side of plasma membrane GO:0009897 9.78 F2 FGA FGB FGG
3 endoplasmic reticulum lumen GO:0005788 9.7 ALB F2 F5 FGA FGG SERPINC1
4 extracellular vesicle GO:1903561 9.61 F5 FGA FGB
5 fibrinogen complex GO:0005577 9.58 FGA FGB FGG
6 platelet alpha granule GO:0031091 9.56 F5 FGA FGB FGG
7 blood microparticle GO:0072562 9.5 ALB F13A1 F2 FGA FGB FGG
8 platelet alpha granule lumen GO:0031093 9.1 ALB F13A1 F5 FGA FGB FGG
9 extracellular exosome GO:0070062 10.1 ALB F2 FGA FGB FGG PLAT
10 extracellular region GO:0005576 10.07 ALB F13A1 F2 F5 FGA FGB
11 extracellular space GO:0005615 10.02 ALB F2 F5 FGA FGB FGG

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.91 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 9.84 F2 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 9.78 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 substrate adhesion-dependent cell spreading GO:1900026 9.74 FGA FGB FGG
14 positive regulation of vasoconstriction GO:0045907 9.73 FGA FGB FGG
15 negative regulation of endothelial cell apoptotic process GO:2000352 9.72 FGA FGB FGG
16 plasminogen activation GO:0031639 9.71 FGA FGB FGG PLAT
17 positive regulation of exocytosis GO:0045921 9.7 FGA FGB FGG
18 cellular protein complex assembly GO:0043623 9.69 FGA FGB FGG
19 protein polymerization GO:0051258 9.67 FGA FGB FGG
20 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.65 FGA FGB FGG
21 blood coagulation GO:0007596 9.65 F13A1 F2 F5 FGA FGB FGG
22 negative regulation of proteolysis GO:0045861 9.64 F2 PLAT
23 regulation of blood coagulation GO:0030193 9.63 F2 SERPINC1
24 positive regulation of peptide hormone secretion GO:0090277 9.63 FGA FGB FGG
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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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