congenital afibrinogenemia

Summary
Synonym
  • Factor I deficiency
  • Fibrinogen deficiency
Definition
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).
Super Class
autosomal recessive disease blood coagulation disease physical disorder
Disease Ontology
DOID:2236
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
2243 FGA fibrinogen alpha chain
2244 FGB fibrinogen beta chain
2266 FGG fibrinogen gamma chain
Displaying all 3 entries
Gene ID Gene Symbol Description Source
14161 Fga fibrinogen alpha chain
99571 Fgg fibrinogen gamma chain
110135 Fgb fibrinogen beta chain
Displaying all 2 entries
Gene ID Gene Symbol Description Source
24366 Fgb fibrinogen beta chain
24367 Fgg fibrinogen gamma chain
Displaying 1 entry
Gene ID Gene Symbol Description Source
177911 Y43C5A.2 Fibrinogen C-terminal domain-containing protein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024