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X-linked dyskeratosis congenita

Epidemiology: - rare Pathology: - progressive bone marrow failure occurs in >80% of cases Genetics: - X-linked recessive - defects in DKC1 Clinical manifestations: - triad of a) reticulated skin hyperpigmentation b) nail dystrophy c) mucosal leukoplakia Complications: - early mortality is often associated with a) bone marrow failure, b) infections c) fatal pulmonary complications d) malignancy

Related

H/ACA ribonucleoprotein complex subunit 4; dyskerin; nucleolar protein family A member 4; snoRNP protein DKC1; Nopp140-associated protein of 57 kDa; nucleolar protein NAP57; CBF5 homolog (DKC1, NOLA4)

General

dyskeratosis congenita (Zinsser-Cole-Engman syndrome)

Properties

ASSOCIATED-NEOPLASM[S]: Hodgkin's disease pancreatic adenocarcinoma

Database Correlations

OMIM correlations MORBIDMAP 300126

References

  1. Heiss NS et al X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nature Genetics 19:32-8, 1998 PMID: 9590285
  2. UniProt :accession O60832