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Autosomal Recessive Dyskeratosis Congenita

Also Known As:

Dyskeratosis Congenita, Autosomal Recessive

Networked: 3 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Hemic and Lymphatic Diseases: 6
- Hematologic Diseases: 3366
  - Bone Marrow Diseases: 135
    - Bone Marrow Failure Disorders: 1082
      - Congenital Bone Marrow Failure Syndromes: 107
        Dyskeratosis Congenita: 333
        Autosomal Recessive Dyskeratosis Congenita: 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Skin Abnormalities: 159
    - Dyskeratosis Congenita: 333
      - Autosomal Recessive Dyskeratosis Congenita: 3
- Inborn Genetic Diseases: 11939
  - Genetic Skin Diseases: 47
    - Dyskeratosis Congenita: 333
      - Autosomal Recessive Dyskeratosis Congenita: 3
  - X-Linked Genetic Diseases: 42
    - Dyskeratosis Congenita: 333
      - Autosomal Recessive Dyskeratosis Congenita: 3
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Skin Abnormalities: 159
    - Dyskeratosis Congenita: 333
      - Autosomal Recessive Dyskeratosis Congenita: 3
  - Genetic Skin Diseases: 47
    - Dyskeratosis Congenita: 333
      - Autosomal Recessive Dyskeratosis Congenita: 3

Related Diseases

1.	Thrombocytopenia (Thrombopenia)
2.	Neutropenia
3.	Hoyeraal Hreidarsson syndrome

Experts

1.	Beswick, Richard: 2 articles (12/2007 - 07/2007)
2.	Dokal, Inderjeet: 2 articles (12/2007 - 07/2007)
3.	Kirwan, Michael: 2 articles (12/2007 - 07/2007)
4.	Marrone, Anna: 2 articles (12/2007 - 07/2007)
5.	Masunari, Yuka: 2 articles (12/2007 - 07/2007)
6.	Vulliamy, Tom: 2 articles (12/2007 - 07/2007)
7.	Tamary, Hannah: 1 article (12/2007)
8.	Walne, Amanda: 1 article (12/2007)
9.	Al-Qurashi, Fat-Hia: 1 article (07/2007)
10.	Aljurf, Mahmoud: 1 article (07/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Autosomal Recessive Dyskeratosis Congenita:

1.	Telomerase (Telomerase Reverse Transcriptase)IBA 12/15/2007 - "Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome." 07/01/2007 - "Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10."
2.	Proteins (Proteins, Gene)FDA Link 07/01/2007 - "Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10."

Therapies and Procedures

1.	Hematopoietic Stem Cell Transplantation 03/01/2003 - "We describe the treatment of a 10-year-old girl with autosomal recessive Dyskeratosis congenita (DC), neutropenia, thrombocytopenia and combined immunodeficiency by nonmyeloablative hematopoietic stem cell transplantation. "