hyperargininemia

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Information
Disease name
hyperargininemia
Disease ID
DOID:9278
Description
"An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine." [url:https\://www.medlink.com/articles/hyperargininemia]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT02488044 Completed Phase 1/Phase 2 A Phase 1/2 Study of AEB1102 in Patients With Arginase I Deficiency June 2016 February 2019
NCT03378531 Completed Phase 2 A Study of AEB1102 (Pegzilarginase) in Patients With Arginase I Deficiency December 7, 2017 December 15, 2022
NCT03921541 Completed Phase 3 Efficacy and Safety of Pegzilarginase in Patients With Arginase 1 Deficiency April 10, 2019 January 27, 2023
NCT03655223 Enrolling by invitation Early Check: Expanded Screening in Newborns October 15, 2018 December 31, 2025
NCT04908319 Recruiting Hepatic Histopathology in Urea Cycle Disorders February 24, 2022 June 30, 2025
NCT04612764 Recruiting Liver Disease in Urea Cycle Disorders November 4, 2021 December 31, 2024
NCT05676853 Terminated Phase 3 A Study of Safety of Weekly Subcutaneous Pegzilarginase in Subjects With Arginase 1 Deficiency April 4, 2023 April 27, 2023
NCT01421888 Terminated The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity August 8, 2011 April 17, 2013
Disase is a (Disease Ontology)
DOID:9267
Cross Reference ID (Disease Ontology)
ICD10CM:E72.21
Cross Reference ID (Disease Ontology)
MESH:D020162
Cross Reference ID (Disease Ontology)
MIM:207800
Cross Reference ID (Disease Ontology)
NCI:C84568
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:23501004
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0268548
Exact Synonym (Disease Ontology)
Arginase deficiency
Exact Synonym (Disease Ontology)
argininemia
Exact Synonym (Disease Ontology)
deficiency of canavanase
MeSH unique ID (MeSH (Medical Subject Headings))
D020162