MCID: DYS026
MIFTS: 44

Dysfibrinogenemia

Categories: Blood diseases, Genetic diseases, Liver diseases, Rare 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:



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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 skin, and related phenotypes are cardiovascular system and homeostasis/metabolism

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 151)
# Related Disease Score Top Affiliating Genes
1 dysfibrinogenemia, congenital 34.0 FGA FGB FGG
2 afibrinogenemia, congenital 30.8 F2 FGA FGB FGG PLAT SERPINC1
3 chronic thromboembolic pulmonary hypertension 30.3 F2 FGA
4 sneddon syndrome 29.9 F2 SERPINC1
5 sagittal sinus thrombosis 29.8 F2 F5 SERPINC1
6 placental abruption 29.7 F2 F5 SERPINC1 THBD
7 liver cirrhosis 29.7 ALB F2 SERPINC1
8 afibrinogenemia 29.5 F2 F5 FGA FGB FGG
9 thrombophilia 29.5 F2 F5 SERPINC1 SERPIND1 THBD
10 protein c deficiency 29.5 F2 F5 SERPINC1 THBD
11 thrombosis 29.4 F13A1 F2 F5 PLAT SERPINC1 SERPIND1
12 vascular disease 28.7 ALB F2 F5 FGA PLAT SERPINC1
13 liver disease 10.3
14 sticky platelet syndrome 10.2 F5 SERPINC1
15 polyposis, skin pigmentation, alopecia, and fingernail changes 10.1 ALB THBD
16 antipyrine metabolism 10.1 ALB F2
17 non-a-e hepatitis 10.1 ALB F2
18 epstein-barr virus hepatitis 10.1 ALB F2
19 arteritic anterior ischemic optic neuropathy 10.1 F2 F5
20 abdominal tuberculosis 10.1 ALB F2
21 factor xii deficiency 10.1 F5 SERPINC1
22 paracetamol poisoning 10.1 F2 F5
23 hepatic tuberculosis 10.1 ALB F2
24 sudden sensorineural hearing loss 10.1 F2 F5
25 cerebral sinovenous thrombosis 10.1 F2 F5
26 kwashiorkor 10.1 ALB F2
27 factor xiii deficiency 10.1 F13A1 F5
28 hepatic coma 10.1 ALB F2
29 carotid artery occlusion 10.1 F5 THBD
30 priapism 10.1 F13A1 F5
31 infantile liver failure syndrome 1 10.1 ALB F2
32 hemoglobin e disease 10.1 F2 F5
33 cryptogenic cirrhosis 10.1 F2 F5
34 splenic disease 10.1 ALB F2
35 factor viii deficiency 10.1 F2 F5
36 ascending cholangitis 10.1 ALB F2
37 porencephaly 10.1 F2 F5
38 intracranial thrombosis 10.1 F5 FGA SERPINC1
39 leech infestation 10.1 F2 SERPINC1
40 intestinal impaction 10.1 F2 SERPINC1
41 alpha-2-plasmin inhibitor deficiency 10.1 F2 SERPINC1
42 giant hemangioma 10.1 F2 SERPINC1
43 blue toe syndrome 10.1 F2 SERPINC1
44 compartment syndrome 10.1 ALB F2
45 gastroschisis 10.0 F2 F5
46 subendocardial myocardial infarction 10.0 F2 SERPINC1
47 myeloma, multiple 10.0
48 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 10.0
49 pulmonary hypertension 10.0
50 hepatorenal syndrome 10.0 ALB F2

Graphical network of the top 20 diseases related to Dysfibrinogenemia:



Diseases related to Dysfibrinogenemia

Symptoms & Phenotypes for Dysfibrinogenemia

MGI Mouse Phenotypes related to Dysfibrinogenemia:

46
# 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 ALB F13A1 F2 F5 FGA FGG
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 ALB F5 FGA SERPINC1 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):


# 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 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, Skin, Heart, Spinal Cord, Myeloid, Placenta

Publications for Dysfibrinogenemia

Articles related to Dysfibrinogenemia:

(show top 50) (show all 175)
# Title Authors Year
1
Clinical and molecular characterization of nine Chinese patients affected by hypofibrinogenemia or dysfibrinogenemia. ( 29351094 )
2018
2
Correction: Acute renal artery infarction secondary to dysfibrinogenemia. ( 30158255 )
2018
3
Diagnosis and management of dysfibrinogenemia. ( 30256775 )
2018
4
A novel fibrinogen variant in a Chinese pedigree with congenital dysfibrinogenemia caused by FGA P. Arg38Thr mutation: A case report. ( 30290666 )
2018
5
Successful Pregnancy under Fibrinogen Substitution with Heparin and Aspirin in a Woman with Dysfibrinogenemia Revealed by Placental Abruption. ( 30296816 )
2018
6
Fibrin monomers derived from thrombogenic dysfibrinogenemia, Naples-type variant (BβAla68Thr), showed almost entirely normal polymerization. ( 30321757 )
2018
7
Dysfibrinogenemia and multiple sclerosis: spuriously associated or causally linked? ( 29904258 )
2017
8
Combined use of Clauss and prothrombin time-derived methods for determining fibrinogen concentrations: Screening for congenital dysfibrinogenemia. ( 28922493 )
2017
9
A novel fibrinogen variant: dysfibrinogenemia associated with I^Asp185Asn substitution. ( 28425010 )
2017
10
Congenital dysfibrinogenemia in a Japanese family with fibrinogen Naples (BI^Ala68Thr) manifesting as superior sagittal sinus thrombosis. ( 28537987 )
2017
11
Acute renal artery infarction secondary to dysfibrinogenemia. ( 29122898 )
2017
12
A Chinese family with congenital Dysfibrinogenemia carries a heterozygous missense mutation in FGA: Concerning the genetic abnormality and clinical treatment. ( 29067075 )
2017
13
Management of dysfibrinogenemia in pregnancy: A case report. ( 28948631 )
2017
14
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
15
Liver Transplantation in a Patient with Acquired Dysfibrinogenemia Who Presented with Subdural Hematoma: A Case Report. ( 28587999 )
2017
16
Treating a Patient of Dysfibrinogenemia with Acute Thromboembolism by Rivaroxaban and Cilostazol. ( 28824252 )
2017
17
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
18
Dysfibrinogenemia with Subgaleal Hematoma: An Unusual Presentation. ( 27408401 )
2016
19
Management of pregnancy in dysfibrinogenemia cases: a dilemma. ( 26757015 )
2016
20
Acquired Dysfibrinogenemia Caused by Autoantibody Inhibiting Fibrin Polymerization in a Patient with MELAS Syndrome and Bleeding Tendency. ( 27993886 )
2016
21
Three cases of congenital dysfibrinogenemia in unrelated Chinese families: heterozygous missense mutation in fibrinogen alpha chain Argl6His. ( 27684817 )
2016
22
[Analysis of a family with congenital dysfibrinogenemia caused by an Arg275His mutation in the gamma chain of fibrinogen]. ( 27060305 )
2016
23
A novel mutation in the fibrinogen AI+ chain (Gly13Arg, fibrinogen Nanning) causes congenital dysfibrinogenemia associated with defective peptide A release. ( 27933517 )
2016
24
Congenital Dysfibrinogenemia, An Unusual Cause for Subdural Hematoma in an Infant. ( 26524418 )
2015
25
Coexisting congenital dysfibrinogenemia with a novel mutation in fibrinogen I^ chain (I^322 Phea89Ile, Fibrinogen Beijing) and haemophilia B in a family. ( 25982359 )
2015
26
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
27
Clinical features and molecular basis of 102 Chinese patients with congenital dysfibrinogenemia. ( 26460252 )
2015
28
Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management. ( 25816717 )
2015
29
Dysfibrinogenemia in a patient undergoing artificial abortion after misdiagnosis and review of the literature. ( 26057201 )
2015
30
Novel heterozygous dysfibrinogenemia, Sumida (AI+C472S), showed markedly impaired lateral aggregation of protofibrils and mildly lower functional fibrinogen levels. ( 25613923 )
2015
31
Thromboelastography predicts risks of obstetric complication occurrence in (hypo)dysfibrinogenemia patients under non-pregnant state. ( 26510121 )
2015
32
Two symptomatic cases of dysfibrinogenemia in China: one with gamma-chain Arg275Cys mutation and another without detectable mutation in fibrinogen genes. ( 25828970 )
2015
33
Congenital dysfibrinogenemia coincidentally diagnosed at the onset of chronic myelogenous leukemia. ( 24881919 )
2014
34
A dysfibrinogenemia leading to resistance to bovine thrombin. ( 25103594 )
2014
35
Natural history of patients with congenital dysfibrinogenemia. ( 25320241 )
2014
36
Fibrinogen Hangzhou: congenital dysfibrinogenemia caused by the novel missense mutation in FGG (γ308Asn→Thr). ( 24482809 )
2014
37
Successful living-related kidney transplantation in a boy with inherited dysfibrinogenemia. ( 23962069 )
2013
38
Hypofibrinogenemia, dysfibrinogenemia or hypodysfibrinogenemia?: comment on 'The dilemma of inherited dysfibrinogenemia during pregnancy'. ( 23518794 )
2013
39
A case of acquired dysfibrinogenemia in multiple myeloma treated with therapeutic plasma exchange. ( 22842111 )
2013
40
Use of purified fibrinogen concentrate for dysfibrinogenemia and importance of laboratory fibrinogen activity measurement. ( 23129109 )
2013
41
Fibrinogen Hangzhou: congenital dysfibrinogenemia caused by the novel missense mutation in FGG (I^308Asna89Thr). ( 24513323 )
2013
42
Heterozygous BI^-chain C-terminal 12 amino acid elongation variant, BI^X462W (Kyoto VI), showed dysfibrinogenemia. ( 22001526 )
2012
43
Lateral medullary syndrome in a boy with hereditary dysfibrinogenemia. ( 22449744 )
2012
44
Combined congenital dysfibrinogenemia and factor VII deficiency from mutations in the FGB and F7 genes. ( 22576285 )
2012
45
Fibrinogen A umperk II: dysfibrinogenemia in an individual with two coding mutations. ( 22407772 )
2012
46
Fibrinogen Tokushima II: a new case of congenital dysfibrinogenemia with a I^ methionine-310 to threonine substitution. ( 22836217 )
2012
47
The dilemma of inherited dysfibrinogenemia during pregnancy. ( 23135383 )
2012
48
Bleeding tendency and prolonged wound healing in a patient with A alphaArg16His dysfibrinogenemia: fibrinogen Krakow IV. ( 22169505 )
2012
49
Acquired dysfibrinogenemia in atherosclerotic vascular disease. ( 21952526 )
2011
50
Congenital dysfibrinogenemia AI+ Gly13Glu associated with bleeding during pregnancy. ( 21112076 )
2011

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 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
12.02 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
13 11.17 ALB F2

GO Terms for Dysfibrinogenemia

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

(show all 12)
# 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 9.89 FGA FGB FGG PLAT THBD
3 collagen-containing extracellular matrix GO:0062023 9.88 F13A1 FGA FGB FGG PLAT SERPINC1
4 external side of plasma membrane GO:0009897 9.81 F2 FGA FGB FGG
5 endoplasmic reticulum lumen GO:0005788 9.7 ALB F2 F5 FGA FGG SERPINC1
6 extracellular vesicle GO:1903561 9.65 F5 FGA FGB
7 platelet alpha granule GO:0031091 9.62 F5 FGA FGB FGG
8 fibrinogen complex GO:0005577 9.61 FGA FGB FGG
9 platelet alpha granule lumen GO:0031093 9.43 ALB F13A1 F5 FGA FGB FGG
10 blood microparticle GO:0072562 9.17 ALB F13A1 F2 FGA FGB FGG
11 extracellular region GO:0005576 10.07 ALB F13A1 F2 F5 FGA FGB
12 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 9.83 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 platelet aggregation GO:0070527 9.77 FGA FGB FGG
10 positive regulation of protein secretion GO:0050714 9.77 FGA FGB FGG
11 toll-like receptor signaling pathway GO:0002224 9.76 FGA FGB FGG
12 negative regulation of endothelial cell apoptotic process GO:2000352 9.75 FGA FGB FGG
13 positive regulation of substrate adhesion-dependent cell spreading GO:1900026 9.74 FGA FGB FGG
14 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.73 FGA FGB FGG
15 positive regulation of vasoconstriction GO:0045907 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-containing complex assembly GO:0034622 9.69 FGA FGB FGG
19 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.67 FGA FGB FGG
20 protein polymerization GO:0051258 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 negative regulation of fibrinolysis GO:0051918 9.63 F2 THBD
25 positive regulation of peptide hormone secretion GO:0090277 9.63 FGA FGB FGG
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 extracellular matrix structural constituent GO:0005201 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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