hyperargininemia
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