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Dyskeratosis Congenita (X-Linked Dyskeratosis Congenita) Summary

Description: 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 Show All >>

Networked: 294 relevant articles (3 outcomes, 8 trials/studies) for this Disease

Key Drugs and Agents for Dyskeratosis Congenita

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. RNA (Ribonucleic Acid) : 1 outcome in 18 results : IBA
  2. Prostaglandins D (PGD) : 1 outcome in 1 result : IBA
  3. Telomerase (Telomerase Reverse Transcriptase) : 4 studies in 96 results : IBA
  4. Shwachman syndrome : 1 study in 26 results : IBA
  5. Hoyeraal Hreidarsson syndrome : 1 study in 23 results : IBA
  6. Ribosomal RNA : 1 study in 8 results : IBA
  7. DNA (Deoxyribonucleic Acid) : 1 study in 5 results : IBA
  8. Erythropoietin : 1 study in 4 results : FDA 1
  9. telomerase RNA (bTR) : 52 results : IBA
  10. Bone Marrow failure syndromes : 27 results : IBA
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Diseases Related to Dyskeratosis Congenita

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

Efficacy Chart >>
  1. Hematopoietic Stem Cell Transplantation : 1 outcome in 9 results
  2. Bone Marrow Transplantation (Transplantation, Bone Marrow) : 8 results
  3. Transplants (Transplant) : 5 results
  4. Transplantation (Transplant Recipients) : 5 results
  5. Stem Cell Transplantation : 4 results
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