Autosomal recessive dyskeratosis congenita

MedGen UID:: 502504
•Concept ID:: C3502105
•: Congenital Abnormality; Disease or Syndrome

Synonym:	Dyskeratosis Congenita, Autosomal Recessive
SNOMED CT:	Autosomal recessive dyskeratosis congenita (707272006)

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	NHP2, NOP10, WRAP53, PARN

Term Hierarchy

GTR
MeSH

Phenotypic abnormality
- Abnormality of the integument
  - Abnormality of the skin
    - Dyskeratosis congenita
      - Autosomal recessive dyskeratosis congenita
        Dyskeratosis congenita, autosomal recessive 1
        Dyskeratosis congenita, autosomal recessive 2
        Dyskeratosis congenita, autosomal recessive 3
        Dyskeratosis congenita, autosomal recessive 6

Recent clinical studies

Prognosis

Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.

Marrone A, Walne A, Tamary H, Masunari Y, Kirwan M, Beswick R, Vulliamy T, Dokal I
Blood 2007 Dec 15;110(13):4198-205. Epub 2007 Sep 4 doi: 10.1182/blood-2006-12-062851. PMID: 17785587 Free PMC Article

Nonmyeloablative allogeneic hematopoietic stem cell transplantation for treatment of Dyskeratosis congenita.

Güngör T, Corbacioglu S, Storb R, Seger RA
Bone Marrow Transplant 2003 Mar;31(5):407-10. doi: 10.1038/sj.bmt.1703844. PMID: 12634734

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Clinical prediction guides

Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.

Vulliamy T, Beswick R, Kirwan M, Marrone A, Digweed M, Walne A, Dokal I
Proc Natl Acad Sci U S A 2008 Jun 10;105(23):8073-8. Epub 2008 Jun 3 doi: 10.1073/pnas.0800042105. PMID: 18523010 Free PMC Article

Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.

See all (2)

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Autosomal recessive dyskeratosis congenita

Term Hierarchy

Recent clinical studies

Prognosis

Clinical prediction guides

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