MCID: FBR023
MIFTS: 22

Fibrinogen Deficiency, Congenital

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Fibrinogen Deficiency, Congenital

MalaCards integrated aliases for Fibrinogen Deficiency, Congenital:

Name: Fibrinogen Deficiency, Congenital 53
Congenital Fibrinogen Deficiency 53 59

Characteristics:

Orphanet epidemiological data:

59
congenital fibrinogen deficiency
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages; Age of death: any age;

Classifications:



Summaries for Fibrinogen Deficiency, Congenital

MalaCards based summary : Fibrinogen Deficiency, Congenital, is also known as congenital fibrinogen deficiency. An important gene associated with Fibrinogen Deficiency, Congenital is FGG (Fibrinogen Gamma Chain). The drug Complement Factor I has been mentioned in the context of this disorder. Related phenotypes are fever and abdominal pain

Related Diseases for Fibrinogen Deficiency, Congenital

Symptoms & Phenotypes for Fibrinogen Deficiency, Congenital

Human phenotypes related to Fibrinogen Deficiency, Congenital:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fever 59 32 hallmark (90%) Very frequent (99-80%) HP:0001945
2 abdominal pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002027
3 microphthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000568
4 decreased testicular size 59 32 hallmark (90%) Very frequent (99-80%) HP:0008734
5 left ventricular hypertrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001712
6 bruising susceptibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000978
7 gingival bleeding 59 32 hallmark (90%) Very frequent (99-80%) HP:0000225
8 internal hemorrhage 59 32 hallmark (90%) Very frequent (99-80%) HP:0011029
9 micropenis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000054
10 volvulus 59 32 hallmark (90%) Very frequent (99-80%) HP:0002580
11 tachycardia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001649
12 cyanosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000961
13 prolonged prothrombin time 59 32 hallmark (90%) Very frequent (99-80%) HP:0008151
14 opisthotonus 59 32 hallmark (90%) Very frequent (99-80%) HP:0002179
15 clubbing of fingers 59 32 hallmark (90%) Very frequent (99-80%) HP:0100759
16 loss of consciousness 59 32 hallmark (90%) Very frequent (99-80%) HP:0007185
17 congenital cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000519
18 right ventricular hypertrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001667
19 abnormality of the subungual region 59 32 hallmark (90%) Very frequent (99-80%) HP:0009723
20 abnormal umbilical stump bleeding 59 32 hallmark (90%) Very frequent (99-80%) HP:0011884
21 splenic rupture 59 32 hallmark (90%) Very frequent (99-80%) HP:0012223
22 hemorrhagic ovarian cyst 59 32 hallmark (90%) Very frequent (99-80%) HP:0012886
23 anaphylactic shock 59 32 hallmark (90%) Very frequent (99-80%) HP:0100845
24 abnormal bleeding 59 Very frequent (99-80%)
25 subcutaneous hemorrhage 59 Very frequent (99-80%)
26 abnormality of cardiovascular system morphology 59 Very frequent (99-80%)

Drugs & Therapeutics for Fibrinogen Deficiency, Congenital

Drugs for Fibrinogen Deficiency, Congenital (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Complement Factor I

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy and Safety Study of Octafibrin for On-demand Treatment of Acute Bleeding and to Prevent Bleeding During and After Surgery Completed NCT02267226 Phase 3 Octafibrin
2 Human Fibrinogen Concentrate (FGTW) in Pediatric Patients With Congenital Fibrinogen Deficiency Completed NCT02094430 Phase 2, Phase 3 biological: human fibrinogen concentrate
3 Pharmacokinetic, Efficacy and Safety of BT524 in Patients With Congenital Fibrinogen Deficiency Recruiting NCT02065882 Phase 3
4 Study to Assess the Efficacy, Safety and Pharmacokinetic of Octafibrin in Paediatric Subjects With Fibrinogen Deficiency Recruiting NCT02408484 Phase 3
5 Fibrinogen Concentrate (Human) − Efficacy and Safety Study Withdrawn NCT00916656 Phase 3
6 Pharmacokinetic, Efficacy, and Safety Study of Octafibrin Compared to Haemocomplettan/Riastap Completed NCT01575756 Phase 2
7 Human Fibrinogen - Pharmacokinetics Completed NCT00496262 Phase 2
8 An Observational Cohort Study of the Safety and Efficacy of Fibrinogen Concentrate, Human (FCH) in Subjects With Congenital Fibrinogen Deficiency Completed NCT02427217
9 Safety and Efficacy of Fibryga in Congenital Fibrinogen Deficiency Not yet recruiting NCT03793426

Search NIH Clinical Center for Fibrinogen Deficiency, Congenital

Genetic Tests for Fibrinogen Deficiency, Congenital

Anatomical Context for Fibrinogen Deficiency, Congenital

Publications for Fibrinogen Deficiency, Congenital

Articles related to Fibrinogen Deficiency, Congenital:

(show all 11)
# Title Authors Year
1
Efficacy and safety of a new human fibrinogen concentrate in patients with congenital fibrinogen deficiency: an interim analysis of a Phase III trial. ( 29194665 )
2018
2
Pharmacokinetics, clot strength and safety of a new fibrinogen concentrate: randomized comparison with active control in congenital fibrinogen deficiency. ( 29220876 )
2018
3
Epidemiology and treatment of congenital fibrinogen deficiency. ( 23439004 )
2012
4
Fibrinogen replacement therapy for congenital fibrinogen deficiency. ( 21711446 )
2011
5
Treatment of congenital fibrinogen deficiency: overview and recent findings. ( 19851522 )
2009
6
Results of an international, multicentre pharmacokinetic trial in congenital fibrinogen deficiency. ( 20109654 )
2009
7
Efficacy and tolerability of a pasteurised human fibrinogen concentrate in patients with congenital fibrinogen deficiency. ( 15919240 )
2005
8
Liquid Extradural Hematoma With Congenital Fibrinogen Deficiency, Case Report. ( 2734693 )
1989
9
Liquid extradural hematoma with congenital fibrinogen deficiency. Case report. ( 3413669 )
1988
10
Cryoprecipitates in treatment of congenital fibrinogen deficiency. Case report. ( 5822778 )
1969
11
Congenital fibrinogen deficiency. ( 5704600 )
1968

Variations for Fibrinogen Deficiency, Congenital

Expression for Fibrinogen Deficiency, Congenital

Search GEO for disease gene expression data for Fibrinogen Deficiency, Congenital.

Pathways for Fibrinogen Deficiency, Congenital

GO Terms for Fibrinogen Deficiency, Congenital

Sources for Fibrinogen Deficiency, 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
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