DKC1base: Hoyeraal-Hreidarsson syndrome

Version 1.02 last updated 16 June, 2011 contains 13 public entries


Curated:	Mauno Vihinen
Maintained by:	Jouni Väliaho
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Short description of the DKC1base :

Defects in DKC1 are a cause of X-linked dyskeratosis congenita (DKC) and Hoyeraal-Hreidarsson syndrome (HHS). DKC is a disease characterized by the early manifestation of reticulate skin pigmentation, nail dystrophy, and mucosal leukoplakia. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality. Hoyeraal-Hreidarsson syndrome is a multisystem disorder affecting males and is characterized by aplastic anemia, immunodeficiency, microcephaly, cerebellar hypoplasia, and growth retardation. HHS is a severe variant of dyskeratosis congenita.

Other IBT bioinformatics services:
Immunodeficiency Resource (IDR)
Immunodeficiency Mutation Databases (MUTbase)
IDdiagnostics
Immunome Knowledge Base (IKB) - An integrated service for immunome research
SH2base - Database for pathogenic SH2 domain mutations

IDbases are linked to University of California Santa Cruz (UCSC) genome browser: DKC1base