dyskeratosis congenita
Information
- Disease name
- dyskeratosis congenita
- Disease ID
- DOID:2729
- Description
- "A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer." [url:http\://en.wikipedia.org/wiki/Dyskeratosis_congenita, url:http\://ghr.nlm.nih.gov/condition/dyskeratosis-congenita]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| SBDS | 7 | 66,987,680 | 66,995,586 | 8 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01659606 | Active, not recruiting | Phase 2 | Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita | July 2012 | December 2034 |
| NCT00455312 | Completed | Phase 2/Phase 3 | Stem Cell Transplant (SCT) for Dyskeratosis Congenita or SAA | August 2007 | June 2016 |
| NCT00499070 | Completed | Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment | January 2007 | August 2012 | |
| NCT00004787 | Completed | Phase 2 | Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes | December 1994 | |
| NCT04959188 | Completed | Needs Assessment for Individuals and Families Affected by Dyskeratosis Congenita (DC) and Related Telomere Biology Disorders (TBD) | September 9, 2021 | July 5, 2023 | |
| NCT00027274 | Recruiting | Cancer in Inherited Bone Marrow Failure Syndromes | November 28, 2001 | ||
| NCT02162420 | Recruiting | N/A | Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia | January 10, 2015 | July 2026 |
| NCT02720679 | Recruiting | Investigation of the Genetics of Hematologic Diseases | June 17, 2016 | July 2050 | |
| NCT03050268 | Recruiting | Familial Investigations of Childhood Cancer Predisposition | April 6, 2017 | March 31, 2037 | |
| NCT03579875 | Recruiting | Phase 2 | Alpha/Beta TCD HCT in Patients With Inherited BMF Disorders | November 13, 2018 | January 5, 2029 |
| NCT04638517 | Recruiting | Phase 2 | The TELO-SCOPE Study: Attenuating Telomere Attrition With Danazol. Is There Scope to Dramatically Improve Health Outcomes for Adults and Children With Pulmonary Fibrosis | September 7, 2021 | June 2025 |
| NCT01001598 | Terminated | Phase 1/Phase 2 | Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita | November 2009 | May 2014 |
- Disase is a (Disease Ontology)
- DOID:37
- Cross Reference ID (Disease Ontology)
- GARD:10905
- Cross Reference ID (Disease Ontology)
- MESH:D019871
- Cross Reference ID (Disease Ontology)
- MIM:PS127550
- Cross Reference ID (Disease Ontology)
- NCI:C111802
- Cross Reference ID (Disease Ontology)
- ORDO:1775
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:74911008
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0265965
- Exact Synonym (Disease Ontology)
- DKCD
- OMIM Phenotype Series Number (OMIM)
- PS127550
- OrphaNumber from OrphaNet (Orphanet)
- 1775
- MeSH unique ID (MeSH (Medical Subject Headings))
- D019871