MCID: DYS026
MIFTS: 50

Dysfibrinogenemia

Categories: Rare diseases, Genetic diseases, Blood diseases

Aliases & Classifications for Dysfibrinogenemia

MalaCards integrated aliases for Dysfibrinogenemia:

Name: Dysfibrinogenemia 53 29 55 6 73
Dysfibrinogenemia, Congenital 73
Congenital Dysfibrinogenemia 53
Dysfibrinogenemia, Familial 53
Familial Dysfibrinogenemia 53

Classifications:



External Ids:

Summaries for Dysfibrinogenemia

NIH Rare Diseases : 53 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.

MalaCards based summary : Dysfibrinogenemia, also known as dysfibrinogenemia, congenital, is related to dysfibrinogenemia, congenital and afibrinogenemia, congenital. 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 Factor VIII and Fibrinolytic Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and testes, and related phenotypes are gingival bleeding and epistaxis

Wikipedia : 76 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 153)
# Related Disease Score Top Affiliating Genes
1 dysfibrinogenemia, congenital 34.3 FGA FGB FGG
2 afibrinogenemia, congenital 31.0 F2 FGA FGB FGG
3 chronic thromboembolic pulmonary hypertension 30.0 F2 FGA FGB
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 28.6 F2 F5 FGA FGB FGG
8 placental abruption 28.5 F2 F5 SERPINC1 THBD
9 protein c deficiency 28.4 F2 F5 SERPINC1 THBD
10 thrombosis 26.9 F13A1 F2 F5 PLAT SERPINC1 THBD
11 vascular disease 25.9 ALB F2 F5 FGA PLAT SERPINC1
12 thrombophilia 24.5 F13A1 F2 F5 FGA FGG PLAT
13 angina pectoris 10.5 FGA SERPINC1
14 burns 10.5 ALB SERPINC1
15 sticky platelet syndrome 10.5 F5 SERPINC1
16 antipyrine metabolism 10.4 ALB F2
17 non-a-e hepatitis 10.4 ALB F2
18 polyposis, skin pigmentation, alopecia, and fingernail changes 10.4 ALB THBD
19 abdominal tuberculosis 10.3 ALB F2
20 factor xii deficiency 10.3 F5 SERPINC1
21 paracetamol poisoning 10.3 F2 F5
22 livedoid vasculopathy 10.3 F2 F5
23 cerebral sinovenous thrombosis 10.3 F2 F5
24 kwashiorkor 10.3 ALB F2
25 hepatic tuberculosis 10.3 ALB F2
26 factor xiii deficiency 10.3 F13A1 F5
27 hepatic coma 10.3 ALB F2
28 hemoglobin e disease 10.3 F2 F5
29 carotid artery occlusion 10.3 F5 THBD
30 priapism 10.3 F13A1 F5
31 splenic disease 10.3 ALB F2
32 cryptogenic cirrhosis 10.2 F2 F5
33 factor viii deficiency 10.2 F2 F5
34 intracranial thrombosis 10.2 F5 FGA SERPINC1
35 porencephaly 10.2 F2 F5
36 ascending cholangitis 10.2 ALB F2
37 intestinal impaction 10.2 F2 SERPINC1
38 blood protein disease 10.2 F2 SERPINC1
39 leech infestation 10.2 F2 SERPINC1
40 alpha-2-plasmin inhibitor deficiency 10.2 F2 SERPINC1
41 giant hemangioma 10.2 F2 SERPINC1
42 compartment syndrome 10.2 ALB F2
43 blue toe syndrome 10.2 F2 SERPINC1
44 anterior spinal artery syndrome 10.2 F2 SERPINC1
45 subendocardial myocardial infarction 10.2 F2 SERPINC1
46 choledocholithiasis 10.1 ALB F2
47 severe pre-eclampsia 10.1 ALB F5 SERPINC1
48 liver disease 10.1
49 purpura fulminans 10.1 F2 SERPINC1
50 korean hemorrhagic fever 10.1 F2 SERPINC1

Graphical network of the top 20 diseases related to Dysfibrinogenemia:



Diseases related to Dysfibrinogenemia

Symptoms & Phenotypes for Dysfibrinogenemia

Human phenotypes related to Dysfibrinogenemia:

32
# Description HPO Frequency HPO Source Accession
1 gingival bleeding 32 hallmark (90%) HP:0000225
2 epistaxis 32 hallmark (90%) HP:0000421
3 gastrointestinal hemorrhage 32 hallmark (90%) HP:0002239
4 venous thrombosis 32 frequent (33%) HP:0004936

MGI Mouse Phenotypes related to Dysfibrinogenemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.1 THBD FGB FGG F13A1 PLAT F2
2 homeostasis/metabolism MP:0005376 9.96 THBD ALB FGG F13A1 PLAT F2
3 hematopoietic system MP:0005397 9.92 FGA THBD FGG F13A1 PLAT F2
4 embryo MP:0005380 9.85 FGA THBD FGG F2 SERPINC1 F5
5 mortality/aging MP:0010768 9.65 FGA THBD ALB FGG F13A1 PLAT
6 liver/biliary system MP:0005370 9.55 THBD FGA ALB SERPINC1 F5
7 reproductive system MP:0005389 9.23 THBD FGB FGG F13A1 PLAT F2

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 Factor VIII
2 Fibrinolytic Agents
3 Anticoagulants

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Fibrinogen Early In Severe Trauma studY Completed NCT02745041 Phase 2 Fibrinogen Concentrate
2 Fibrinogen Early In Severe Trauma studY Junior Not yet recruiting NCT03508141 Phase 2 Fibrinogen Concentrate;Cryoprecipitate
3 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 29

Anatomical Context for Dysfibrinogenemia

MalaCards organs/tissues related to Dysfibrinogenemia:

41
Liver, Kidney, Testes, Bone, Bone Marrow

Publications for Dysfibrinogenemia

Articles related to Dysfibrinogenemia:

(show top 50) (show all 170)
# Title Authors Year
1
Clinical and molecular characterization of nine Chinese patients affected by hypofibrinogenemia or dysfibrinogenemia. ( 29351094 )
2018
2
Dysfibrinogenemia and multiple sclerosis: spuriously associated or causally linked? ( 29904258 )
2017
3
Combined use of Clauss and prothrombin time-derived methods for determining fibrinogen concentrations: Screening for congenital dysfibrinogenemia. ( 28922493 )
2017
4
A novel fibrinogen variant: dysfibrinogenemia associated with I^Asp185Asn substitution. ( 28425010 )
2017
5
Congenital dysfibrinogenemia in a Japanese family with fibrinogen Naples (BI^Ala68Thr) manifesting as superior sagittal sinus thrombosis. ( 28537987 )
2017
6
Acute renal artery infarction secondary to dysfibrinogenemia. ( 29122898 )
2017
7
A Chinese family with congenital Dysfibrinogenemia carries a heterozygous missense mutation in FGA: Concerning the genetic abnormality and clinical treatment. ( 29067075 )
2017
8
Management of dysfibrinogenemia in pregnancy: A case report. ( 28948631 )
2017
9
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
10
Treating a Patient of Dysfibrinogenemia with Acute Thromboembolism by Rivaroxaban and Cilostazol. ( 28824252 )
2017
11
Liver Transplantation in a Patient with Acquired Dysfibrinogenemia Who Presented with Subdural Hematoma: A Case Report. ( 28587999 )
2017
12
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
13
Dysfibrinogenemia with Subgaleal Hematoma: An Unusual Presentation. ( 27408401 )
2016
14
Management of pregnancy in dysfibrinogenemia cases: a dilemma. ( 26757015 )
2016
15
Acquired Dysfibrinogenemia Caused by Autoantibody Inhibiting Fibrin Polymerization in a Patient with MELAS Syndrome and Bleeding Tendency. ( 27993886 )
2016
16
Three cases of congenital dysfibrinogenemia in unrelated Chinese families: heterozygous missense mutation in fibrinogen alpha chain Argl6His. ( 27684817 )
2016
17
[Analysis of a family with congenital dysfibrinogenemia caused by an Arg275His mutation in the gamma chain of fibrinogen]. ( 27060305 )
2016
18
A novel mutation in the fibrinogen AI+ chain (Gly13Arg, fibrinogen Nanning) causes congenital dysfibrinogenemia associated with defective peptide A release. ( 27933517 )
2016
19
[Dysfibrinogenemia developed in a pregnant woman who has fibrinogen AI+Thr312Ala (ACT/GCT) polymorphism]. ( 26861101 )
2016
20
Congenital Dysfibrinogenemia, An Unusual Cause for Subdural Hematoma in an Infant. ( 26524418 )
2015
21
Coexisting congenital dysfibrinogenemia with a novel mutation in fibrinogen I^ chain (I^322 Phea89Ile, Fibrinogen Beijing) and haemophilia B in a family. ( 25982359 )
2015
22
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
23
Clinical features and molecular basis of 102 Chinese patients with congenital dysfibrinogenemia. ( 26460252 )
2015
24
Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management. ( 25816717 )
2015
25
Dysfibrinogenemia in a patient undergoing artificial abortion after misdiagnosis and review of the literature. ( 26057201 )
2015
26
Novel heterozygous dysfibrinogenemia, Sumida (AI+C472S), showed markedly impaired lateral aggregation of protofibrils and mildly lower functional fibrinogen levels. ( 25613923 )
2015
27
Thromboelastography predicts risks of obstetric complication occurrence in (hypo)dysfibrinogenemia patients under non-pregnant state. ( 26510121 )
2015
28
Two symptomatic cases of dysfibrinogenemia in China: one with gamma-chain Arg275Cys mutation and another without detectable mutation in fibrinogen genes. ( 25828970 )
2015
29
Congenital dysfibrinogenemia coincidentally diagnosed at the onset of chronic myelogenous leukemia. ( 24881919 )
2014
30
A dysfibrinogenemia leading to resistance to bovine thrombin. ( 25103594 )
2014
31
Natural history of patients with congenital dysfibrinogenemia. ( 25320241 )
2014
32
Fibrinogen Hangzhou: congenital dysfibrinogenemia caused by the novel missense mutation in FGG (I^308Asna89Thr). ( 24482809 )
2014
33
Successful living-related kidney transplantation in a boy with inherited dysfibrinogenemia. ( 23962069 )
2013
34
Hypofibrinogenemia, dysfibrinogenemia or hypodysfibrinogenemia?: comment on 'The dilemma of inherited dysfibrinogenemia during pregnancy'. ( 23518794 )
2013
35
A case of acquired dysfibrinogenemia in multiple myeloma treated with therapeutic plasma exchange. ( 22842111 )
2013
36
Use of purified fibrinogen concentrate for dysfibrinogenemia and importance of laboratory fibrinogen activity measurement. ( 23129109 )
2013
37
Chronic thromboembolic pulmonary hypertension-associated dysfibrinogenemias exhibit disorganized fibrin structure. ( 24182551 )
2013
38
Fibrinogen Hangzhou: congenital dysfibrinogenemia caused by the novel missense mutation in FGG (I^308Asna89Thr). ( 24513323 )
2013
39
Heterozygous BI^-chain C-terminal 12 amino acid elongation variant, BI^X462W (Kyoto VI), showed dysfibrinogenemia. ( 22001526 )
2012
40
Lateral medullary syndrome in a boy with hereditary dysfibrinogenemia. ( 22449744 )
2012
41
Combined congenital dysfibrinogenemia and factor VII deficiency from mutations in the FGB and F7 genes. ( 22576285 )
2012
42
Fibrinogen A umperk II: dysfibrinogenemia in an individual with two coding mutations. ( 22407772 )
2012
43
Fibrinogen Tokushima II: a new case of congenital dysfibrinogenemia with a I^ methionine-310 to threonine substitution. ( 22836217 )
2012
44
The dilemma of inherited dysfibrinogenemia during pregnancy. ( 23135383 )
2012
45
Bleeding tendency and prolonged wound healing in a patient with A alphaArg16His dysfibrinogenemia: fibrinogen Krakow IV. ( 22169505 )
2012
46
Acquired dysfibrinogenemia in atherosclerotic vascular disease. ( 21952526 )
2011
47
Congenital dysfibrinogenemia AI+ Gly13Glu associated with bleeding during pregnancy. ( 21112076 )
2011
48
Unexpected laboratory diagnosis: Acquired dysfibrinogenemia in a bleeding patient with liver disease. ( 21090055 )
2010
49
Inherited dysfibrinogenemia: clinical phenotypes associated with five different fibrinogen structure defects. ( 19923982 )
2010
50
Dysfibrinogenemia in childhood: two cases of congenital dysfibrinogens. ( 20829681 )
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_000508.3(FGA): c.103C> T (p.Arg35Cys) single nucleotide variant Pathogenic rs121909606 GRCh38 Chromosome 4, 154589514: 154589514
3 FGA NM_000508.4(FGA): c.104G> A (p.Arg35His) single nucleotide variant Pathogenic rs121909607 GRCh37 Chromosome 4, 155510665: 155510665
4 FGA NM_000508.4(FGA): c.104G> A (p.Arg35His) single nucleotide variant Pathogenic rs121909607 GRCh38 Chromosome 4, 154589513: 154589513

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 12)
# 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
12.02 ALB F2 PLAT
4
Show member pathways
11.98 FGA FGB FGG
5
Show member pathways
11.83 FGA FGB FGG
6 11.8 F13A1 F2 F5 FGA FGB FGG
7
Show member pathways
11.77 FGA FGB FGG
8 11.7 FGA FGB FGG
9
Show member pathways
11.7 F2 FGA FGB FGG
10
Show member pathways
11.52 F13A1 F2 F5 FGA FGB FGG
11 11.38 F2 FGA FGB FGG
12 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 extracellular space GO:0005615 9.96 ALB F2 F5 FGA FGB FGG
2 cell surface GO:0009986 9.88 FGA FGB FGG PLAT THBD
3 external side of plasma membrane GO:0009897 9.8 F2 FGA FGB FGG
4 endoplasmic reticulum lumen GO:0005788 9.7 ALB F2 F5 FGA FGG SERPINC1
5 platelet alpha granule GO:0031091 9.62 F5 FGA FGB FGG
6 extracellular vesicle GO:1903561 9.61 F5 FGA FGB
7 fibrinogen complex GO:0005577 9.58 FGA FGB FGG
8 blood microparticle GO:0072562 9.5 ALB F13A1 F2 FGA FGB FGG
9 platelet alpha granule lumen GO:0031093 9.1 ALB F13A1 F5 FGA FGB FGG
10 extracellular region GO:0005576 10.07 ALB F13A1 F2 F5 FGA FGB
11 extracellular exosome GO:0070062 10.06 ALB F2 FGA FGB FGG PLAT

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 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.82 FGA FGB FGG
6 extracellular matrix organization GO:0030198 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 endothelial cell apoptotic process GO:2000352 9.75 FGA FGB FGG
13 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.74 FGA FGB FGG
14 positive regulation of vasoconstriction GO:0045907 9.73 FGA FGB FGG
15 positive regulation of substrate adhesion-dependent cell spreading GO:1900026 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-containing complex assembly GO:0034622 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 signaling receptor binding GO:0005102 9.02 F2 FGA FGB FGG PLAT

Sources for Dysfibrinogenemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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