citrullinemia
Information
- Disease name
- citrullinemia
- Disease ID
- DOID:9273
- Description
- "An inherited urea cycle disorder that involves the accumulation of ammonia and other toxic substances in the blood." [url:http\://en.wikipedia.org/wiki/Citrullinemia]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00718627 | Completed | Phase 2 | Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders | July 2008 | November 2015 |
| NCT01610089 | Completed | N/A | Nitric Oxide Flux and Ureagenesis in Argininosuccinate Synthetase Deficiency (ASSD)(Citrullinemia I) | December 2012 | September 2013 |
| NCT05910151 | Recruiting | Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan | October 3, 2022 | December 31, 2024 | |
| 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:E72.23
- Cross Reference ID (Disease Ontology)
- MESH:D020159
- Cross Reference ID (Disease Ontology)
- NCI:C84639
- Cross Reference ID (Disease Ontology)
- ORDO:187
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:15489004
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0175683
- Exact Synonym (Disease Ontology)
- ASS deficiency
- Exact Synonym (Disease Ontology)
- deficiency of citrulline-aspartate ligase
- OrphaNumber from OrphaNet (Orphanet)
- 187
- MeSH unique ID (MeSH (Medical Subject Headings))
- D020159