Factor I mutations

GPTKB entity

Statements (60)
Predicate Object
gptkbp:instance_of gptkb:Genetics
gptkbp:acquired_by functional assays
gptkbp:affects immune response
patient quality of life
complement system
blood coagulation
gptkbp:are_diagnosed_by genetic testing
gptkbp:are_identified_in familial cases
gptkbp:are_part_of gptkb:hereditary_angioedema
complement system disorders
gptkbp:associated_with C3 glomerulopathy
gptkbp:can_cause edema
thrombotic microangiopathy
hemolytic uremic syndrome
gptkbp:can_detect serum complement levels
gptkbp:can_lead_to chronic kidney disease
diagnostic challenges
increased susceptibility to infections
recurrent abdominal pain
reduced Factor I activity
gptkbp:can_result_in inflammatory responses
complement component deficiencies
dysregulation of immune system
gptkbp:caused_by variations in the SERPING1 gene
https://www.w3.org/2000/01/rdf-schema#label Factor I mutations
gptkbp:influence treatment outcomes
gptkbp:inherits_from in an autosomal dominant manner
gptkbp:is_affected_by environmental factors
gptkbp:is_associated_with chronic inflammation
autoimmune disorders
systemic complications
increased risk of thrombosis
poor prognosis in some cases
gptkbp:is_characterized_by recurrent infections
variable expressivity
gptkbp:is_essential_for understanding complement biology
gptkbp:is_involved_in complement activation pathways
pathogenesis of glomerulonephritis
research on complement inhibitors
gptkbp:is_linked_to gptkb:systemic_lupus_erythematosus
complement-mediated diseases
nephritis
genetic counseling needs
complement factor deficiencies
gptkbp:is_managed_by plasma infusions
gptkbp:is_part_of diagnostic criteria for diseases
gptkbp:is_recognized_by gptkb:guidelines
next-generation sequencing.
gptkbp:is_related_to C4b-binding protein deficiency
gptkbp:is_relevant_to personalized medicine approaches
clinical management strategies
gptkbp:is_significant_for understanding immune deficiencies
gptkbp:is_studied_for gene therapy approaches
gptkbp:is_studied_in animal models
clinical research
gptkbp:requires complement replacement therapy
gptkbp:resulted_in uncontrolled complement activation
gptkbp:treatment immunosuppressive therapy
gptkbp:bfsParent gptkb:Atypical_Hemolytic_Uremic_Syndrome
gptkbp:bfsLayer 7