Kartagener syndrome
Information
- Disease name
- Kartagener syndrome
- Disease ID
- DOID:0050144
- Description
- "A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development." [url:http\://en.wikipedia.org/wiki/Situs_inversus#Kartagener_syndrome, url:http\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C84797, url:http\://rarediseases.info.nih.gov/gard/6815/kartagener-syndrome/resources/1, url:https\://www.ncbi.nlm.nih.gov/pubmed/19529061, url:https\://www.ncbi.nlm.nih.gov/pubmed/23243352, url:https\://www.ncbi.nlm.nih.gov/pubmed/24019633, url:https\://www.ncbi.nlm.nih.gov/pubmed/25633235]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| DNAH5 | 5 | 13,690,328 | 13,944,688 | 4 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00783887 | Completed | Diagnosis of Primary Ciliary Dyskinesia | January 2010 | December 2012 | |
| NCT03832491 | Completed | N/A | Effect of Game Based Approach on Oxygenation, Functional Capacity and Quality of Life in Primary Ciliary Dyskinesia | May 20, 2019 | February 5, 2020 |
| NCT00608556 | Completed | Dyskinesia, Heterotaxy and Congenital Heart Disease | January 25, 2008 | October 31, 2011 | |
| NCT02389049 | Completed | Genetics of Primary Ciliary Dyskinesia | February 2015 | July 2018 | |
| NCT00722878 | Completed | Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung Disease | July 2008 | August 2019 | |
| NCT05040607 | Completed | Physical Fitness, Exercise Capacity and Activities of Daily Living in Primary Ciliary Dyskinesia: a Retrospective Study | January 21, 2020 | February 10, 2020 | |
| NCT00323167 | Completed | Rare Genetic Disorders of the Breathing Airways | May 2006 | October 2012 | |
| NCT05161858 | Recruiting | Longitudinal Characterization of Respiratory Tract Exacerbations and Treatment Responses in Primary Ciliary Dyskinesia | March 29, 2022 | July 31, 2024 | |
| NCT00807482 | Recruiting | Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease | January 2004 | April 2025 | |
| NCT03517865 | Recruiting | International Primary Ciliary Dyskinesia Cohort | January 2013 | December 2030 | |
| NCT03606200 | Recruiting | Swiss Primary Ciliary Dyskinesia Registry | January 2013 | December 2050 | |
| NCT04611516 | Recruiting | The Ear-Nose-Throat (ENT) Prospective International Cohort of PCD Patients (EPIC-PCD) | March 2, 2020 | December 2030 | |
| NCT04702243 | Recruiting | Defining the Genetic Etiology of Suppurative Lung Disease in Children and Adults | December 1, 2020 | July 31, 2024 | |
| NCT04919018 | Recruiting | Characterizing the Upper Airway Manifestations in Primary Ciliary Dyskinesia and Primary Immunodeficiencies | June 9, 2021 | July 31, 2024 |
- Disase is a (Disease Ontology)
- DOID:9562
- Cross Reference ID (Disease Ontology)
- GARD:6815
- Cross Reference ID (Disease Ontology)
- MESH:D007619
- Cross Reference ID (Disease Ontology)
- NCI:C84797
- Cross Reference ID (Disease Ontology)
- ORDO:98861
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2021_09_01:42402006
- Exact Synonym (Disease Ontology)
- Kartagener's syndrome
- MedGen concept unique identifier (MedGen Concept name)
- C0022521
- MedGen unique identifier (MedGen Concept name)
- 9615
- MeSH unique ID (MeSH (Medical Subject Headings))
- D007619