MCID: DYS165
MIFTS: 33

Dysfibrinogenemia, Congenital

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Dysfibrinogenemia, Congenital

MalaCards integrated aliases for Dysfibrinogenemia, Congenital:

Name: Dysfibrinogenemia, Congenital 57 75 29 40
Hypodysfibrinogenemia 57 76 6 73
Hypodysfibrinogenemia, Congenital 57 75 6
Familial Hypodysfibrinogenemia 59
Familial Dysfibrinogenemia 59
Dysfibrin 75

Characteristics:

Orphanet epidemiological data:

59
familial dysfibrinogenemia
Inheritance: Autosomal dominant; Age of onset: All ages;

Classifications:



External Ids:

OMIM 57 616004
UMLS via Orphanet 74 C0272350
ICD10 via Orphanet 34 D68.2
MedGen 42 C0272350
MeSH 44 D025861
UMLS 73 C0472803

Summaries for Dysfibrinogenemia, Congenital

OMIM : 57 Inherited disorders of fibrinogen affect either the quantity (afibrinogenemia and hypofibrinogenemia; 202400) or the quality (dysfibrinogenemia) of the circulating fibrinogen, or both (hypodysfibrinogenemia). Patients with dysfibrinogenemia are frequently asymptomatic, but some patients have bleeding diathesis, thromboembolic complications, or both (summary by de Moerloose and Neerman-Arbez, 2009). Reports (e.g., Haverkate and Samama, 1995) on approximately 350 families with dysfibrinogenemia revealed that approximately half of cases are clinically silent, a quarter show a tendency toward bleeding, and another quarter show a predisposition for thrombosis with or without bleeding (summary by Lefebvre et al., 2004). (616004)

MalaCards based summary : Dysfibrinogenemia, Congenital, also known as hypodysfibrinogenemia, is related to dysfibrinogenemia and afibrinogenemia, congenital. An important gene associated with Dysfibrinogenemia, Congenital is FGG (Fibrinogen Gamma Chain), and among its related pathways/superpathways are Activated TLR4 signalling and Developmental Biology. Related phenotypes are gingival bleeding and epistaxis

UniProtKB/Swiss-Prot : 75 Dysfibrinogenemia, congenital: A disorder characterized by qualitative abnormalities (dysfibrinogenemia) of the circulating fibrinogen. Affected individuals are frequently asymptomatic, but some patients have bleeding diathesis, thromboembolic complications, or both. In some cases, dysfibrinogenemia is associated with low circulating fibrinogen levels (hypodysfibrinogenemia).

Wikipedia : 76 Hypodysfibrinogenemia, also termed congenital hypodysfibrinogenemia, is a rare hereditary fibrinogen... more...

Related Diseases for Dysfibrinogenemia, Congenital

Diseases in the Dysfibrinogenemia family:

Dysfibrinogenemia, Congenital

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

# Related Disease Score Top Affiliating Genes
1 dysfibrinogenemia 30.3 FGA FGB FGG
2 afibrinogenemia, congenital 29.4 FGA FGB FGG
3 thrombosis 10.1
4 thrombophilia due to thrombin defect 9.9
5 chronic thromboembolic pulmonary hypertension 9.2 FGA FGB
6 thrombophilia 8.9 FGA FGG
7 afibrinogenemia 8.6 FGA FGB FGG

Graphical network of the top 20 diseases related to Dysfibrinogenemia, Congenital:



Diseases related to Dysfibrinogenemia, Congenital

Symptoms & Phenotypes for Dysfibrinogenemia, Congenital

Clinical features from OMIM:

616004

Human phenotypes related to Dysfibrinogenemia, Congenital:

59
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gingival bleeding 59 Very frequent (99-80%)
2 epistaxis 59 Very frequent (99-80%)
3 abnormal bleeding 59 Very frequent (99-80%)
4 gastrointestinal hemorrhage 59 Very frequent (99-80%)
5 venous thrombosis 59 Frequent (79-30%)

Drugs & Therapeutics for Dysfibrinogenemia, Congenital

Search Clinical Trials , NIH Clinical Center for Dysfibrinogenemia, Congenital

Genetic Tests for Dysfibrinogenemia, Congenital

Genetic tests related to Dysfibrinogenemia, Congenital:

# Genetic test Affiliating Genes
1 Dysfibrinogenemia, Congenital 29 FGA FGB FGG

Anatomical Context for Dysfibrinogenemia, Congenital

Publications for Dysfibrinogenemia, Congenital

Articles related to Dysfibrinogenemia, Congenital:

# Title Authors Year
1
A new heterozygous mutation in gamma fibrinogen gene leading to 326 Cys-->Ser substitution in fibrinogen CA^rdoba is associated with defective polymerization and familial hypodysfibrinogenemia. ( 14996011 )
2004

Variations for Dysfibrinogenemia, Congenital

UniProtKB/Swiss-Prot genetic disease variations for Dysfibrinogenemia, Congenital:

75
# Symbol AA change Variation ID SNP ID
1 FGA p.Arg35Cys VAR_002392 rs121909606
2 FGA p.Arg573Cys VAR_002401 rs121909613
3 FGB p.Ala98Thr VAR_002406 rs121909620
4 FGG p.Arg301His VAR_002410 rs121913088
5 FGG p.Gly318Val VAR_002411 rs121913089
6 FGG p.Asp356Val VAR_002418 rs121913094
7 FGG p.Ser404Pro VAR_072621 rs587777720

ClinVar genetic disease variations for Dysfibrinogenemia, Congenital:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FGA NM_000508.4(FGA): c.510+1G> T single nucleotide variant Pathogenic rs146387238 GRCh37 Chromosome 4, 155508663: 155508663
2 FGA NM_000508.4(FGA): c.510+1G> T single nucleotide variant Pathogenic rs146387238 GRCh38 Chromosome 4, 154587511: 154587511
3 FGG NM_021870.2(FGG): c.1210T> C (p.Ser404Pro) single nucleotide variant Pathogenic rs587777720 GRCh38 Chromosome 4, 154604986: 154604986
4 FGG NM_021870.2(FGG): c.1210T> C (p.Ser404Pro) single nucleotide variant Pathogenic rs587777720 GRCh37 Chromosome 4, 155526138: 155526138

Expression for Dysfibrinogenemia, Congenital

Search GEO for disease gene expression data for Dysfibrinogenemia, Congenital.

Pathways for Dysfibrinogenemia, Congenital

Pathways related to Dysfibrinogenemia, Congenital according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.02 FGA FGB FGG
2
Show member pathways
12.94 FGA FGB FGG
3
Show member pathways
12.82 FGA FGB FGG
4
Show member pathways
12.78 FGA FGB FGG
5
Show member pathways
12.45 FGA FGB FGG
6
Show member pathways
12.39 FGA FGB FGG
7
Show member pathways
12.31 FGA FGB FGG
8
Show member pathways
11.94 FGA FGB FGG
9
Show member pathways
11.81 FGA FGB FGG
10
Show member pathways
11.76 FGA FGB FGG
11 11.69 FGA FGB FGG
12
Show member pathways
11.63 FGA FGB FGG
13 11.52 FGA FGB FGG
14
Show member pathways
11.32 FGA FGB FGG
15 10.84 FGA FGB FGG
16 10.49 FGA FGB FGG

GO Terms for Dysfibrinogenemia, Congenital

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.63 FGA FGB FGG
2 cell surface GO:0009986 9.58 FGA FGB FGG
3 external side of plasma membrane GO:0009897 9.5 FGA FGB FGG
4 endoplasmic reticulum lumen GO:0005788 9.48 FGA FGG
5 cell cortex GO:0005938 9.43 FGA FGB
6 blood microparticle GO:0072562 9.43 FGA FGB FGG
7 extracellular vesicle GO:1903561 9.37 FGA FGB
8 platelet alpha granule lumen GO:0031093 9.33 FGA FGB FGG
9 platelet alpha granule GO:0031091 9.13 FGA FGB FGG
10 fibrinogen complex GO:0005577 8.8 FGA FGB FGG

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.79 FGA FGB FGG
2 extracellular matrix organization GO:0030198 9.79 FGA FGB FGG
3 blood coagulation GO:0007596 9.78 FGA FGB FGG
4 platelet degranulation GO:0002576 9.77 FGA FGB FGG
5 platelet activation GO:0030168 9.76 FGA FGB FGG
6 cell-matrix adhesion GO:0007160 9.75 FGA FGB FGG
7 response to calcium ion GO:0051592 9.74 FGA FGB FGG
8 hemostasis GO:0007599 9.73 FGA FGB FGG
9 toll-like receptor signaling pathway GO:0002224 9.72 FGA FGB FGG
10 platelet aggregation GO:0070527 9.71 FGA FGB FGG
11 positive regulation of protein secretion GO:0050714 9.7 FGA FGB FGG
12 negative regulation of endothelial cell apoptotic process GO:2000352 9.69 FGA FGB FGG
13 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.67 FGA FGB FGG
14 positive regulation of vasoconstriction GO:0045907 9.65 FGA FGB FGG
15 adaptive immune response GO:0002250 9.63 FGA FGB
16 cellular protein metabolic process GO:0044267 9.63 FGA FGG
17 positive regulation of substrate adhesion-dependent cell spreading GO:1900026 9.63 FGA FGB FGG
18 cellular response to interleukin-1 GO:0071347 9.62 FGB FGG
19 positive regulation of exocytosis GO:0045921 9.61 FGA FGB FGG
20 induction of bacterial agglutination GO:0043152 9.6 FGA FGB
21 fibrinolysis GO:0042730 9.58 FGA FGB FGG
22 cellular protein-containing complex assembly GO:0034622 9.54 FGA FGB FGG
23 plasminogen activation GO:0031639 9.5 FGA FGB FGG
24 protein polymerization GO:0051258 9.43 FGA FGB FGG
25 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.33 FGA FGB FGG
26 positive regulation of peptide hormone secretion GO:0090277 9.13 FGA FGB FGG
27 blood coagulation, fibrin clot formation GO:0072378 8.8 FGA FGB FGG

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

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.43 FGA FGB FGG
2 structural molecule activity GO:0005198 9.33 FGA FGB FGG
3 protein binding, bridging GO:0030674 9.13 FGA FGB FGG
4 cell adhesion molecule binding GO:0050839 8.8 FGA FGB FGG

Sources for Dysfibrinogenemia, Congenital

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
Content
Loading form....