congenital afibrinogenemia

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Information
Disease name
congenital afibrinogenemia
Disease ID
DOID:2236
Description
"A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I)." [url:https\://ghr.nlm.nih.gov/condition/congenital-afibrinogenemia#synonyms]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT02065882 Completed Phase 3 Pharmacokinetic, Efficacy and Safety of BT524 in Patients With Congenital Fibrinogen Deficiency March 2013 November 18, 2020
NCT02281500 Completed Phase 1/Phase 2 Pharmacokinetics, Efficacy, and Safety of Human Plasma-Derived Fibrinogen (FIB Grifols) in Participants With Congenital Afibrinogenemia July 22, 2016 November 11, 2019
NCT04636268 Withdrawn Phase 3 FIB Grifols Congenital Deficiency for On-demand Treatment and Surgical Prophylaxis December 2023 March 2025
Disase is a (Disease Ontology)
DOID:1247
Cross Reference ID (Disease Ontology)
GARD:5761
Cross Reference ID (Disease Ontology)
MESH:D000347
Cross Reference ID (Disease Ontology)
MIM:202400
Cross Reference ID (Disease Ontology)
NCI:C98130
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:278504009
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0001733
Exact Synonym (Disease Ontology)
Factor I deficiency
Exact Synonym (Disease Ontology)
Fibrinogen deficiency