HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Dyskeratosis Congenita (X-Linked Dyskeratosis Congenita)

A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin.
Also Known As:
X-Linked Dyskeratosis Congenita; Congenita, X-Linked Dyskeratosis; Dyskeratosis Congenita, X Linked; Syndrome, Zinsser-Cole-Engman; X-Linked Dyskeratosis Congenitas; Zinsser Cole Engman Syndrome; Dyskeratosis Congenita, X-Linked; Zinsser-Cole-Engman Syndrome
Networked: 333 relevant articles (6 outcomes, 9 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Congenital Bone Marrow Failure Syndromes
2. Fanconi Anemia (Fanconi's Anemia)
3. Diamond-Blackfan Anemia (Anemia, Diamond Blackfan)
4. Bone Marrow Failure Disorders
5. Aplastic Anemia (Anemia, Hypoplastic)

Experts

1. Dokal, Inderjeet: 24 articles (11/2022 - 06/2002)
2. Alter, Blanche P: 20 articles (01/2022 - 03/2007)
3. Savage, Sharon A: 20 articles (01/2022 - 09/2007)
4. Giri, Neelam: 17 articles (01/2022 - 09/2007)
5. Vulliamy, Tom: 15 articles (11/2022 - 06/2002)
6. Mason, Philip J: 14 articles (10/2012 - 06/2002)
7. Lansdorp, Peter M: 10 articles (10/2017 - 11/2003)
8. Marrone, Anna: 9 articles (11/2009 - 06/2002)
9. Meier, U Thomas: 8 articles (12/2019 - 05/2005)
10. Artandi, Steven E: 7 articles (01/2022 - 01/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Dyskeratosis Congenita:
1. RNA (Ribonucleic Acid)IBA
2. Prostaglandins DIBA
3. Telomerase (Telomerase Reverse Transcriptase)IBA
4. telomerase RNA (bTR)IBA
5. Ribosomal RNAIBA
6. Danazol (Azol)FDA LinkGeneric
7. Peptides (Polypeptides)IBA
8. ErythropoietinFDA Link
9. Long Noncoding RNAIBA
10. DNA HelicasesIBA

Therapies and Procedures

1. Cell Transplantation
2. Hematopoietic Stem Cell Transplantation
3. Bone Marrow Transplantation (Transplantation, Bone Marrow)
4. Therapeutics
5. Stem Cell Transplantation