Autosomal Dominant Dyskeratosis Congenita

Also Known As:

Dyskeratosis Congenita, Autosomal Dominant; Dyskeratosis Congenita, Scoggins Type

Networked: 22 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 Dominant Dyskeratosis Congenita: 22
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Skin Abnormalities: 159
    - Dyskeratosis Congenita: 333
      - Autosomal Dominant Dyskeratosis Congenita: 22
- Inborn Genetic Diseases: 11939
  - Genetic Skin Diseases: 47
    - Dyskeratosis Congenita: 333
      - Autosomal Dominant Dyskeratosis Congenita: 22
  - X-Linked Genetic Diseases: 42
    - Dyskeratosis Congenita: 333
      - Autosomal Dominant Dyskeratosis Congenita: 22
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Skin Abnormalities: 159
    - Dyskeratosis Congenita: 333
      - Autosomal Dominant Dyskeratosis Congenita: 22
  - Genetic Skin Diseases: 47
    - Dyskeratosis Congenita: 333
      - Autosomal Dominant Dyskeratosis Congenita: 22

Related Diseases

1.	Aplastic Anemia (Anemia, Hypoplastic)
2.	Bone Marrow Failure Disorders
3.	Dyskeratosis Congenita (X-Linked Dyskeratosis Congenita)
4.	Vitreous Hemorrhage
5.	Pulmonary Fibrosis (Fibrosing Alveolitis)

Experts

1.	Mason, Philip J: 8 articles (02/2008 - 02/2004)
2.	Bessler, Monica: 6 articles (02/2008 - 02/2004)
3.	Vulliamy, Tom: 5 articles (12/2012 - 05/2004)
4.	Wilson, David B: 4 articles (02/2008 - 02/2004)
5.	Dokal, Inderjeet: 4 articles (08/2007 - 05/2004)
6.	Marrone, Anna: 4 articles (08/2007 - 05/2004)
7.	Du, Hong-Yan: 3 articles (02/2008 - 11/2005)
8.	Greider, Carol W: 3 articles (03/2007 - 11/2005)
9.	Field, Joshua J: 2 articles (02/2008 - 07/2006)
10.	An, Ping: 2 articles (10/2007 - 07/2006)

Drugs and Biologics

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

1.	Telomerase (Telomerase Reverse Transcriptase)IBA 12/16/2005 - "Autosomal-dominant dyskeratosis congenita is associated with heterozygous mutations in telomerase. " 11/01/2005 - "Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita." 01/01/2005 - "Mutations in telomerase components lead to telomere shortening and hematopoietic stem cell failure in autosomal dominant dyskeratosis congenita and aplastic anemia. " 02/01/2007 - "Autosomal dominant dyskeratosis congenita (DKC) is an inherited disease that is linked to mutations in telomerase RNA and impairs telomerase function. " 09/27/2001 - "The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita."
2.	telomerase RNA (bTR)IBA 10/01/2007 - "Haploinsufficiency for TERC or TERT leads to progressive telomere shortening and autosomal dominant dyskeratosis congenita (DC). " 11/01/2005 - "Families with autosomal dominant dyskeratosis congenita display anticipation and have mutations in the telomerase RNA gene. " 08/01/2003 - "Mutations in the human telomerase RNA (TERC) occur in autosomal dominant dyskeratosis congenita (DKC). " 09/01/2013 - "A point mutation in the TERC gene confirmed the diagnosis of AD-DC.  Autosomal dominant dyskeratosis congenita is a rare form of inherited bone marrow failure and its presentation is milder than seen in patients with X-linked and autosomal recessive mutations. " 05/01/2006 - "Mutations in the human telomerase RNA gene (TERC) cause autosomal dominant dyskeratosis congenita and have been detected in individuals with bone marrow failure. "
3.	RNA (Ribonucleic Acid)IBA 09/27/2001 - "The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita." 05/01/2004 - "The RNA component of this reverse transcriptase is mutated in the bone marrow failure syndrome autosomal dominant dyskeratosis congenita. " 12/01/2003 - "Autosomal dominant dyskeratosis congenita (DKC) has been linked to mutations in the RNA component of telomerase, the ribonucleoprotein responsible for telomere maintenance. " 07/01/2006 - "Mutations in TERC, the RNA component of telomerase, result in autosomal dominant dyskeratosis congenita (DC), a rare bone marrow failure syndrome. " 11/22/2005 - "Autosomal dominant dyskeratosis congenita (AD DC), a rare inherited bone marrow failure syndrome, is caused by mutations in TERC, the RNA component of telomerase. "
4.	Retinaldehyde (Retinal)IBA 09/01/2013 - "Bilateral retinal vasculopathy associated with autosomal dominant dyskeratosis congenita." 12/01/2012 - "Retinal vasculopathy in autosomal dominant dyskeratosis congenita due to TINF2 mutation." 12/01/2009 - "Retinal vasculopathy in a family with autosomal dominant dyskeratosis congenita." 09/01/2013 - "To report a case of autosomal dominant dyskeratosis congenita (AD-DC) complicated by bilateral retinal vasculopathy and proliferative retinopathy with vitreous hemorrhage in the right eye, in the absence of pancytopenia.  We report a 32-year-old woman who presented with floaters in her right eye. " 12/01/2009 - "We report a case of a young white adult male with a family history of clinically diagnosed autosomal dominant dyskeratosis congenita, who presented with retinal edema and peripheral retinal ischemia. "
5.	RibonucleoproteinsIBA 12/01/2003 - "Autosomal dominant dyskeratosis congenita (DKC) has been linked to mutations in the RNA component of telomerase, the ribonucleoprotein responsible for telomere maintenance. " 01/21/2003 - "Autosomal dominant dyskeratosis congenita (DKC), as well as aplastic anemia, has been linked to mutations in the RNA component of telomerase, the ribonucleoprotein responsible for telomere maintenance. "
6.	RNA-Directed DNA Polymerase (Reverse Transcriptase)IBA 05/01/2004 - "The RNA component of this reverse transcriptase is mutated in the bone marrow failure syndrome autosomal dominant dyskeratosis congenita. " 02/01/2008 - "Heterozygous mutations in the telomerase components TERT, the reverse transcriptase, and TERC, the RNA template, cause autosomal dominant dyskeratosis congenita due to telomere shortening. "
7.	Ribosomal RNAIBA 02/01/2004 - "Autosomal dominant dyskeratosis congenita is associated with mutations in the RNA component of telomerase, hTERC, while X-linked dyskeratosis congenita is due to mutations in the gene encoding dyskerin, a protein implicated in both telomerase function and ribosomal RNA processing. "
8.	Proteins (Proteins, Gene)FDA Link 02/01/2004 - "Autosomal dominant dyskeratosis congenita is associated with mutations in the RNA component of telomerase, hTERC, while X-linked dyskeratosis congenita is due to mutations in the gene encoding dyskerin, a protein implicated in both telomerase function and ribosomal RNA processing. "