KEGG   DISEASE: Hoyeraal-Hreidarsson syndromeHelp
Entry
H00788                      Disease                                

Name
Hoyeraal-Hreidarsson syndrome
Description
Hoyeraal-Hreidarsson syndrome is a severe variant of the X-linked recessive dyskeratosis congenita. It is a multisystem disorder characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, bone marrow failure associated with immunodeficiency. A missense mutation in the DKC1 gene and premature short telomeres were found in the disease.
Category
Ribosomopathy
Brite
Human diseases [BR:br08402]
 Other congenital disorders
  Ribosomopathies
   H00788  Hoyeraal-Hreidarsson syndrome
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   Pure red cell aplasia
    3A70  Aplastic anaemia
     H00788  Hoyeraal-Hreidarsson syndrome
BRITE hierarchy
Pathway
hsa03008  Ribosome biogenesis in eukaryotes
Gene
DKC1 [HSA:1736] [KO:K11131]
Comment
Dyskeratosis congenita is described in H00507.
Other DBs
ICD-11: 3A70.0
ICD-10: D61.0
MeSH: C536068
OMIM: 300240
Reference
  Authors
Sznajer Y, Baumann C, David A, Journel H, Lacombe D, Perel Y, Blouin P, Segura JF, Cezard JP, Peuchmaur M, Vulliamy T, Dokal I, Verloes A
  Title
Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome).
  Journal
Eur J Pediatr 162:863-7 (2003)
DOI:10.1007/s00431-003-1317-5
Reference
  Authors
Valera ET, Brassesco MS, Roxo P Jr, Lourenco CM, Scrideli CA, Ferriani VP, Tone LG, Vulliamy T, Sakamoto-Hojo ET
  Title
Genomic instability in Hoyeraal-Hreidarsson syndrome.
  Journal
Pediatr Blood Cancer 54:779-80 (2010)
DOI:10.1002/pbc.22446

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