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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: 294 relevant articles (3 outcomes, 8 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Aplastic Anemia (Anemia, Hypoplastic)
2. Diamond-Blackfan Anemia (Anemia, Diamond Blackfan)
3. Fanconi Anemia (Fanconi's Anemia)
4. Neoplasms (Cancer)
5. Infection

Experts

1. Dokal, Inderjeet: 29 articles (05/2015 - 06/2002)
2. Alter, Blanche P: 21 articles (10/2015 - 01/2005)
3. Vulliamy, Tom: 21 articles (09/2013 - 06/2002)
4. Mason, Philip J: 19 articles (09/2014 - 06/2002)
5. Giri, Neelam: 15 articles (08/2015 - 09/2007)
6. Savage, Sharon A: 14 articles (08/2015 - 09/2007)
7. Bessler, Monica: 13 articles (03/2015 - 02/2004)
8. Marrone, Anna: 13 articles (11/2009 - 06/2002)
9. Kirwan, Michael: 11 articles (03/2013 - 07/2007)
10. Lansdorp, Peter M: 11 articles (03/2010 - 08/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Dyskeratosis Congenita:
1. RNA (Ribonucleic Acid)IBA
2. Prostaglandins D (PGD)IBA
3. Telomerase (Telomerase Reverse Transcriptase)IBA
4. Shwachman syndromeIBA
5. Hoyeraal Hreidarsson syndromeIBA
6. Ribosomal RNAIBA
7. DNA (Deoxyribonucleic Acid)IBA
8. ErythropoietinFDA Link
9. telomerase RNA (bTR)IBA
10. Bone Marrow failure syndromesIBA

Therapies and Procedures

1. Hematopoietic Stem Cell Transplantation
2. Bone Marrow Transplantation (Transplantation, Bone Marrow)
3. Transplants (Transplant)
4. Transplantation (Transplant Recipients)
5. Stem Cell Transplantation