How Altered Ribosome Production Can Cause or Contribute to Human Disease: The Spectrum of Ribosomopathies

Cells. 2020 Oct 15;9(10):2300. doi: 10.3390/cells9102300.


A number of different defects in the process of ribosome production can lead to a diversified spectrum of disorders that are collectively identified as ribosomopathies. The specific factors involved may either play a role only in ribosome biogenesis or have additional extra-ribosomal functions, making it difficult to ascribe the pathogenesis of the disease specifically to an altered ribosome biogenesis, even if the latter is clearly affected. We reviewed the available literature in the field from this point of view with the aim of distinguishing, among ribosomopathies, the ones due to specific alterations in the process of ribosome production from those characterized by a multifactorial pathogenesis.

Keywords: 5q− syndrome; Diamond Blackfan anemia; Shwachman-Diamond syndrome; Treacher Collins syndrome; X-linked dyskeratosis congenita; cancer; cartilage hair hypoplasia; rare diseases; ribosome biogenesis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Anemia, Diamond-Blackfan
  • Anemia, Macrocytic
  • Chromosome Deletion
  • Chromosomes, Human, Pair 5
  • Dyskeratosis Congenita
  • Fetal Growth Retardation
  • Genetic Predisposition to Disease
  • Hair / abnormalities
  • Hirschsprung Disease
  • Humans
  • Mandibulofacial Dysostosis
  • Osteochondrodysplasias / congenital
  • Primary Immunodeficiency Diseases
  • Psychomotor Disorders
  • RNA, Ribosomal / physiology*
  • Rare Diseases / etiology*
  • Ribosomal Proteins / physiology*
  • Ribosomes / genetics*
  • Ribosomes / pathology*
  • Shwachman-Diamond Syndrome


  • RNA, Ribosomal
  • Ribosomal Proteins

Supplementary concepts

  • Bowen-Conradi syndrome
  • Cartilage-hair hypoplasia
  • Chromosome 5q Deletion Syndrome