antithrombin III deficiency
Information
- Disease name
- antithrombin III deficiency
- Disease ID
- DOID:3755
- Description
- "A thrombophilia that is characterized by the tendency to form clots in the veins." [url:http\://en.wikipedia.org/wiki/Antithrombin_III_deficiency, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/99/viewAbstract]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| SERPINC1 | 1 | 173,903,800 | 173,917,327 | 2 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00319228 | Active, not recruiting | Phase 2/Phase 3 | Safety, Pharmacokinetics and Efficacy of an ATIII Concentrate | January 2006 | March 2029 |
| NCT00110513 | Completed | Phase 3 | Recombinant Human Antithrombin (rhAT) in Patients With Hereditary Antithrombin Deficiency Undergoing Surgery or Delivery | April 2005 | July 2008 |
| NCT04879550 | Completed | Prospective Investigation of Antithrombin III Deficiency in Adult Patients With ECMO | January 1, 2020 | March 1, 2022 | |
| NCT05891899 | Not yet recruiting | Belgian Antithrombin Deficiency Registry | May 2024 | December 2060 | |
| NCT04899232 | Terminated | Phase 2 | Antithrombin III in Infectious Disease Caused by COVID-19 | July 6, 2021 | March 31, 2022 |
| NCT02503267 | Unknown status | "Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects" | July 2015 | June 2017 | |
| NCT02278575 | Withdrawn | Phase 4 | Atenativ Effect on Uterine Blood Flow and Preeclampsia | January 2016 | May 2017 |
- Disase is a (Disease Ontology)
- DOID:2452
- Cross Reference ID (Disease Ontology)
- ICD10CM:D68.59
- Cross Reference ID (Disease Ontology)
- MESH:D020152
- Cross Reference ID (Disease Ontology)
- MIM:613118
- Cross Reference ID (Disease Ontology)
- NCI:C98815
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:36351005
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0272375
- Exact Synonym (Disease Ontology)
- AT III deficiency
- Exact Synonym (Disease Ontology)
- hereditary thrombophilia due to congenital antithrombin deficiency
- MeSH unique ID (MeSH (Medical Subject Headings))
- D020152