Reactome | Defective SERPING1 causes hereditary angioedema

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Defective SERPING1 causes hereditary angioedema Show undefined attributes

authored	[InstanceEdit:9660568] Shamovsky, Veronica, 2019-09-09
created	[InstanceEdit:9657691] Shamovsky, Veronica, 2019-08-09
crossReference	[DatabaseIdentifier:12819549] BioModels Database:BIOMD0000000338 [DatabaseIdentifier:12020817] Mondo:0007361 [DatabaseIdentifier:12819551] BioModels Database:BIOMD0000000340 [DatabaseIdentifier:12819559] BioModels Database:BIOMD0000000339
dbId	9657689
disease	[Disease:9650398] C1 inhibitor deficiency [Disease:9653241] hereditary angioedema
displayName	Defective SERPING1 causes hereditary angioedema
edited	[InstanceEdit:9690131] Shamovsky, Veronica, 2020-05-26
eventOf	[Pathway:R-HSA-9946127] Defects of contact activation system and kallikrein-kinin system - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-9650447] SERPING1 variant is not secreted - Homo sapiens [FailedReaction:R-HSA-9651456] SERPING1 variant does not bind factor XIIa - Homo sapiens [FailedReaction:R-HSA-9651467] SERPING1 variant does not bind kallikrein - Homo sapiens
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:9650449] Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function [LiteratureReference:9650328] Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency [LiteratureReference:9650573] Dominant-negative SERPING1 variants cause intracellular retention of C1 inhibitor in hereditary angioedema [LiteratureReference:9650416] Intermittent C1-Inhibitor Deficiency Associated with Recessive Inheritance: Functional and Structural Insight [LiteratureReference:9651482] High-molecular-weight kininogen cleavage correlates with disease states in the bradykinin-mediated angioedema due to hereditary C1-inhibitor deficiency [LiteratureReference:9651465] Hereditary angioedema: the plasma contact system out of control [LiteratureReference:9650467] A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu) [LiteratureReference:9650515] A mutation unique in serine protease inhibitors (serpins) identified in a family with type II hereditary angioneurotic edema [LiteratureReference:9651430] Characterization of C1 inhibitor-Ta. A dysfunctional C1INH with deletion of lysine 251 [LiteratureReference:9650476] CpG mutations in the reactive site of human C1 inhibitor
maxDepth	2
modified	[InstanceEdit:12819426] Weiser, Joel, 2026-02-23
name	Defective SERPING1 causes hereditary angioedema Defective C1 inhibitor causes hereditary angioedema
normalPathway	[Pathway:R-HSA-9970672] FXIIa activates plasma kallikrein-kinin system
releaseDate	2020-06-10
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:9673821] D'Eustachio, Peter, 2020-01-09 [InstanceEdit:9681505] Zhang, Bin, 2020-04-02
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-9657689
summation	[Summation:9657692] The reciprocal activation is initiated when zymogen factor X...

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[Pathway:R-HSA-9946127] Defects of contact activation system and kallikrein-kinin system

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