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dyskeratosis congenita
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
DCLRE1B
HLA-DRB1
TERT
DKC1
NOP10
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
telomerase holoenzyme complex
box H/ACA telomerase RNP complex
box H/ACA RNP complex
positive regulation of telomerase RNA localization to Cajal body
PID_TELOMERASE_PATHWAY
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Curated Studies
Most Correlated Studies
iPSC of dyskeratosis congenita patient with PARN mutation after PAPD5 knockdown
OMIM - Skin Related Disorders
OMIM - Autoinflammation
OMIM - Familial bone marrow failure
Mouse Phenotypes - Genodermatosis
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Literature
Most Relevant Literature
Bilateral cytomegalovirus retinitis as the presenting feature of Dyskeratosis Congenita.
The biology and management of dyskeratosis congenita and related disorders of telomeres.
Lipoprotein particle alterations due to androgen therapy in individuals with dyskeratosis congenita.
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis conge…
Editing TINF2 as a potential therapeutic approach to restore telomere length in dyskeratosis congeni…
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Clinical Trials
Most Relevant Clinical Trials
Stem Cell Transplant (SCT) for Dyskeratosis Congenita or SAA
Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita
Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia
Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Con…
Needs Assessment for Individuals and Families Affected by Dyskeratosis Congenita (DC) and Related Te…
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