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Dyskeratosis Congenita (X-Linked Dyskeratosis Congenita)

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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: 160 relevant articles (1 outcomes, 3 trials/studies) for this Disease, Comments

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Aplastic Anemia (Anemia, Hypoplastic)
2.	Neoplasms (Cancer)
3.	Stroke (Strokes)
4.	Infection
5.	Heart Diseases (Heart Disease)

Experts

1.	Dokal, Inderjeet: 18 articles (11/2009 - 06/2002)
2.	Mason, Philip J: 15 articles (01/2010 - 06/2002)
3.	Vulliamy, Tom: 12 articles (11/2009 - 06/2002)
4.	Marrone, Anna: 12 articles (11/2009 - 06/2002)
5.	Lansdorp, Peter M: 10 articles (03/2010 - 08/2003)
6.	Alter, Blanche P: 9 articles (08/2010 - 01/2005)
7.	Bessler, Monica: 9 articles (01/2010 - 02/2004)
8.	Kirwan, Michael: 7 articles (11/2009 - 07/2007)
9.	Walne, Amanda: 7 articles (06/2008 - 05/2004)
10.	Beswick, Richard: 6 articles (11/2009 - 07/2007)

Drugs and Biologics

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

1.	RNA (Ribonucleic Acid)IBA 11/15/2003 - "Substitution mutagenesis within the proposed RNA.RNA interaction site of hTR(380-444) resulted in a loss of dimerisation potential and insertion of the dyskeratosis congenita mutation C408G led to a significant reduction in dimer formation. " 01/20/2006 - "Crystal structure of a Cbf5-Nop10-Gar1 complex and implications in RNA-guided pseudouridylation and dyskeratosis congenita." 01/01/2006 - "Mutations in key RNA and protein components of H/ACA RNPs result in dyskeratosis congenita, a serious multisystem genetic disease. " 10/01/2007 - "PUA motifs are involved in dyskeratosis congenita and cancer, pointing to links between RNA metabolism and human diseases." 05/01/2004 - "The RNA component of this reverse transcriptase is mutated in the bone marrow failure syndrome autosomal dominant dyskeratosis congenita. " Order ALL the reference details at left...
2.	Telomerase (Telomerase Reverse Transcriptase)IBA 02/12/2010 - "After the initial discovery of human telomerase deficiency in the X-linked form of the bone marrow failure syndrome dyskeratosis congenita, mutations in genes encoding telomerase subunits have been identified in patients with a wide spectrum of disorders. " 01/01/2010 - "It is encoded by the DKC1 gene, the gene mutated in X-linked dyskeratosis congenita, and is also part of the telomerase complex. " 11/01/2009 - "Both MDS, and to a lesser extent AML, have been observed in cases of the bone marrow failure syndrome dyskeratosis congenita, in which telomerase mutations have been identified. " 10/01/2009 - "[Mutation in the telomerase complex component NHP2 in dyskeratosis congenita]" 09/17/2009 - "Mutations in the X-linked gene, DKC1, encoding dyskerin, cause dyskeratosis congenita by leading to decreased telomerase activity and causing short telomeres. " Order ALL the reference details at left...
3.	Ribosomal RNAIBA 01/01/2004 - "In respect of dyskeratosis congenita (DC), a disease of either X-linked or autosomal dominant/recessive inheritance which is characterized by premature ageing of highly regenerative tissues, studies have been carried out in order to elucidate whether the X-linked DC is caused by a defect in ribosomal RNA processing and/or telomere maintenance. " 06/02/2010 - "One example is X-linked dyskeratosis congenita (X-DC) in which the DKC1 gene, encoding for an enzyme that modifies ribosomal RNA, is found to be mutated. " 02/01/2004 - "RECENT FINDINGS: Newly developed animal models suggest that defects in ribosomal RNA processing contribute to the phenotype of X-linked dyskeratosis congenita. " 01/10/2003 - "Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification." 03/22/1999 - "We show that mfl encodes an ubiquitous nucleolar protein that plays a central role in ribosomal RNA processing and pseudouridylation, whose known eukaryotic homologues are yeast Cfb5p, rat NAP57 and human dyskerin, encoded by the gene responsible for the X-linked dyskeratosis congenita disease. " Order ALL the reference details at left...
4.	telomerase RNA (bTR)IBA 11/24/2009 - "Single-molecule analysis of the human telomerase RNA.dyskerin interaction and the effect of dyskeratosis congenita mutations." 05/01/2009 - "An atypical form of dyskeratosis congenita with renal agenesis and no mutation in DKC1, TERC and TERT genes." 02/01/2009 - "Dyskeratosis congenita mutations in the H/ACA domain of human telomerase RNA affect its assembly into a pre-RNP." 01/08/2009 - "Dyskeratosis congenita (DC) is a rare inherited form of bone marrow failure (BMF) caused by mutations in telomere maintaining genes including TERC and TERT. " 02/01/2008 - "Patients with dyskeratosis congenita (DC), a heterogeneous inherited bone marrow failure syndrome, have abnormalities in telomere biology, including very short telomeres and germline mutations in DKC1, TERC, TERT, or NOP10, but approximately 60% of DC patients lack an identifiable mutation. " Order ALL the reference details at left...
5.	DiamondIBA 07/01/2010 - "Fanconi anaemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anaemia (DBA), and Shwachman-Diamond syndrome (SDS) comprise major inherited bone marrow failure syndromes (IBMFS). " 05/01/2008 - "They have also provided important insights into some fundamental biological pathways: DNA repair-FA/BRCA pathway; telomere maintenance- dyskeratosis congenita related genes; ribosome biogenesis-Shwachman Diamond syndrome and Diamond-Blackfan anaemia genes. " 05/01/2008 - "Impairment of ribosome biogenesis or function characterizes several of the inherited bone marrow failure syndromes: Diamond-Blackfan anaemia, dyskeratosis congenita (DC), Shwachman-Diamond syndrome and cartilage-hair hypoplasia. " 04/22/2010 - "Mutations in other genes required for normal ribosome biogenesis have been implicated in other rare congenital syndromes, Schwachman-Diamond syndrome, dyskeratosis congenita, cartilage hair hypoplasia, and Treacher Collins syndrome. " 03/01/2008 - "We reviewed the recent progress of molecular mechanisms in bone marrow failure syndromes, such as Shwachman-Diamond syndrome (SDS), Diamond-Blackfan anemia (DBA), and dyskeratosis congenita (DC), which are all predicted to involve defective ribosome synthesis. " Order ALL the reference details at left...
6.	Granulocyte Colony-Stimulating Factor (G-CSF)IBA 12/01/1994 - "Effective stimulation of neutropoiesis with rh G-CSF in dyskeratosis congenita: a case report." 05/01/1994 - "Positive response to granulocyte-colony-stimulating factor in dyskeratosis congenita before matched unrelated bone marrow transplantation." 03/01/2002 - "Dyskeratosis congenita with isolated neutropenia and granulocyte colony-stimulating factor treatment." 05/01/1997 - "Treatment of dyskeratosis congenita with granulocyte colony-stimulating factor and erythropoietin." 09/01/2007 - "Splenic peliosis and rupture in patients with dyskeratosis congenita on androgens and granulocyte colony-stimulating factor." Order ALL the reference details at left...
7.	pseudouridine synthasesIBA 06/01/2003 - "The human TruB family of pseudouridine synthase genes, including the Dyskeratosis Congenita 1 gene and the novel member TRUB1." 08/01/2010 - "In humans, loss of pseudouridine synthase activity causes dyskeratosis congenita (DC), a complex systemic disorder characterized by cancer susceptibility, failures in ribosome biogenesis and telomere stability, and defects in stem cell formation. " 12/01/2009 - "X-linked dyskeratosis congenita (DC) is a rare bone marrow failure syndrome caused by mostly missense mutations in the pseudouridine synthase NAP57 (dyskerin/Cbf5). " 08/08/2000 - "By extrapolation, our findings also support the assignment of pseudouridine synthase function to certain physiologically important eukaryotic proteins that contain Motif I, including the human protein dyskerin, alteration of which leads to the disease dyskeratosis congenita." 07/15/2010 - "Mutations in DKC1, encoding for dyskerin, a pseudouridine synthase that modifies rRNA and regulates telomerase activity, are associated with ribosomal dysfunction and increased cancer susceptibility in the human syndrome, X-linked dyskeratosis congenita (X-DC). " Order ALL the reference details at left...
8.	RibonucleoproteinsIBA 12/01/2009 - "Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita." 02/01/2009 - "Dyskeratosis congenita (DC) is an inherited disorder that implicates defects in the biology of telomeres, which are maintained by telomerase, a ribonucleoprotein with reverse transcriptase activity. " 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. " Order ALL the reference details at left...
9.	Antilymphocyte Serum (Anti-Thymocyte Globulin)IBA 10/01/1995 - "15 patients with idiopathic (12 patients) or secondary (one post-hepatitic, one drug induced, one dyskeratosis congenita) SAA, refractory or relapsing after one to three courses of antilymphocyte globulin were included. " 07/01/2007 - "Allogeneic stem cell transplantation in a patient with dyskeratosis congenita after conditioning with low-dose cyclophosphamide and anti-thymocyte globulin." 05/05/2005 - "Aplastic anemia associated with dyskeratosis congenita treated with antilymphocyte globulin and cyclosporine: a case report." 03/01/2007 - "Fludarabine, cyclophosphamide, and antithymocyte globulin for a patient with dyskeratosis congenita and severe bone marrow failure." Order ALL the reference details at left...
10.	NAP57IBA 01/01/2001 - "Mutations in the human DKC1 gene encoding dyskerin (human homologue of yeast Cbf5p and rat NAP57) cause dyskeratosis congenita a rare inherited bone marrow failure syndrome characterized by abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia." 12/01/2009 - "X-linked dyskeratosis congenita (DC) is a rare bone marrow failure syndrome caused by mostly missense mutations in the pseudouridine synthase NAP57 (dyskerin/Cbf5). " 12/01/2009 - "Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita." 12/01/2006 - "Finally, the irreversible association of only NAP57 with H/ACA RNA and the conundrum that only NAP57 is mutated in X-linked dyskeratosis congenita (even though most core proteins are required for maintaining H/ACA RNAs) may be more than a coincidence." 03/22/1999 - "We show that mfl encodes an ubiquitous nucleolar protein that plays a central role in ribosomal RNA processing and pseudouridylation, whose known eukaryotic homologues are yeast Cfb5p, rat NAP57 and human dyskerin, encoded by the gene responsible for the X-linked dyskeratosis congenita disease. " Order ALL the reference details at left...

Therapies and Procedures

1.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 02/01/1999 - "Correction of bone marrow failure in dyskeratosis congenita by bone marrow transplantation." 10/01/1998 - "Unusual complications after bone marrow transplantation for dyskeratosis congenita." 03/01/1996 - "The aplastic anaemia associated with dyskeratosis congenita can be successfully treated by allogeneic bone marrow transplantation; however, this approach does not reverse the other systemic manifestations of the syndrome. " 06/01/1992 - "Bone marrow transplantation for dyskeratosis congenita." 10/01/1991 - "Late vascular complications after bone marrow transplantation for dyskeratosis congenita." Order ALL the reference details at left...
2.	Transplants (Transplant) 05/01/1999 - "Bone marrow transplant for dyskeratosis congenita." 03/01/1996 - "Eight patients with aplastic anaemia associated with dyskeratosis congenita received allogeneic marrow grafts from either HLA-identical siblings (six patients) or HLA-matched unrelated donors (two patients). " 05/01/2003 - "Since the results of conventional hematopoietic stem-cell transplantation (HSCT) for patients with dyskeratosis congenita (DC) are poor owing to the high incidence of transplant-related complications, we explored the use of a low-intensity HSCT regimen. " 07/01/1985 - "A 33-year-old man with dyskeratosis congenita received a marrow transplant to treat severe pancytopenia. " Order ALL the reference details at left...
3.	Hematopoietic Stem Cell Transplantation 12/01/2005 - "Fatal diffuse capillaritis after hematopoietic stem-cell transplantation for dyskeratosis congenita despite low-intensity conditioning regimen." 02/01/2004 - "Recent clinical reports suggest that nonmyeloablative conditioning regimens afford better outcomes in patients with dyskeratosis congenita who require hematopoietic stem cell transplantation. " 03/01/2003 - "Nonmyeloablative allogeneic hematopoietic stem cell transplantation for treatment of Dyskeratosis congenita." 05/01/2003 - "Since the results of conventional hematopoietic stem-cell transplantation (HSCT) for patients with dyskeratosis congenita (DC) are poor owing to the high incidence of transplant-related complications, we explored the use of a low-intensity HSCT regimen. " 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. " Order ALL the reference details at left...
4.	Transplantation (Transplant Recipients) 03/01/1996 - "Allogeneic marrow transplantation for aplastic anaemia associated with dyskeratosis congenita." 07/01/1985 - "- The outcome of transplantation in dyskeratosis congenita is compared to that in Fanconi's anaemia due to the resemblance of both diseases in some aspects." 03/01/1996 - "The pathogenesis of the intestinal lung disease observed in dyskeratosis congenita patients following marrow transplantation is not understood." 07/01/1985 - "Marrow transplantation for pancytopenia in dyskeratosis congenita." 11/01/2002 - "Successful umbilical cord blood transplantation in a child with dyskeratosis congenita after a fludarabine-based reduced-intensity conditioning regimen." Order ALL the reference details at left...
5.	Stem Cell Transplantation 09/01/2007 - "Dyskeratosis congenita: advances in the understanding of the telomerase defect and the role of stem cell transplantation." 07/01/2007 - "Allogeneic stem cell transplantation in a patient with dyskeratosis congenita after conditioning with low-dose cyclophosphamide and anti-thymocyte globulin." Order ALL the reference details at left...

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