Hyperammonemia
Information
- Disease name
- Hyperammonemia
- Disease ID
- Description
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| TUFM | 16 | 28,842,411 | 28,846,348 | 4 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03947034 | Completed | Monitoring the Hyperammonaemia:TOXicity of Drugs (AmmoTOX) | May 1, 2019 | April 4, 2023 | |
| NCT06135675 | Completed | Phase 1/Phase 2 | Safety, Tolerability, Pharmacokinetic Characteristics and Preliminary Efficacy of TNP-2092 Capsules in Liver Cirrhosis Patients With Hyperammonemia | August 27, 2020 | June 12, 2021 |
| NCT06178718 | Completed | Phase 1 | A Phase 1, Single-center, Double-blind, Placebo-controlled Study of TNP-2092 Capsules, and the Food Effect Study After Single-dose Oral Administration of TNP-2092 Capsules | June 6, 2016 | July 30, 2016 |
| NCT05040178 | Recruiting | An Observational Study of Carbaglu® for the Treatment of MMA and PA in Adults and Pediatrics | June 30, 2022 | June 30, 2032 | |
| NCT05349435 | Terminated | Phase 1 | A Healthy Volunteer Study to Compare Fezagepras (PBI-4050) With Sodium Phenylbutyrate | May 13, 2022 | June 30, 2022 |
| NCT00279851 | Withdrawn | Blood Sugars in Children With Idiopathic Seizures. | February 2006 | February 2007 |
- HPO alt_id (Human Phenotype Ontology)
- HP:0008308
- HPO alt_id (Human Phenotype Ontology)
- HP:0008334
- HPO Human Phenotype ID (Human Phenotype Ontology)
- HP:0001987
- MeSH unique ID (MeSH (Medical Subject Headings))
- D022124