Group of diseases

Articles

• polyglucosan body diseases
  3 January 2006

  Polyglucosan diseases

• G-protein diseases
  11 November 2003

  G protein diseases

• RECQL deficiencies
  28 October 2003

  RecQ DNA helicases deficiencies, RECQLs deficiencies, DNA helicases deficiencies

• chromosomal breakage syndromes
  19 November 2003

  DNA breakage syndromes, breakage syndrome

• trinucleotide repeat diseases
  19 November 2003

  TRS, trinucleotide repeat syndromes, triplet repeat expansion diseases, trinucleotide repeat disorders, repeat expansion diseases

• mitochondrial protein synthesis disorders
  20 November 2003

  References
  Jacobs HT. Disorders of mitochondrial protein synthesis. Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R293-301. Epub 2003 Aug 19. PMID: #12928485#
  Jacobs HT, Holt IJ. The np 3243 MELAS mutation: damned if you aminoacylate, damned if you don’t. Hum Mol Genet. 2000 Mar 1;9(4):463-5. PMID: #10699169#

• primary leiomyopathies
  12 November 2003

  primary visceral myopathies

• severe combined immunodeficiency
  29 November 2004

  SCIDs

• tumor predisposition syndromes
  19 June 2003

  cancer prone diseases, tumoral predisposition syndrome, cancer predisposition syndrome, tumor prone diseases, cancer susceptibility
  Cancer predisposition are related to anomalies of DNA metabolism, DNA repair, cell-cycle governance, or control of apoptosis.
  Classification
  anomalies of DNA metabolism rhabdoid tumor predisposition syndrome (INI1)
  dysregulation of telomere shortening dyskeratosis congenita (DKC)
  DNA repair anomalies DNA mismatch repair anomalies (HNPCC) base (...)

• translation diseases
  4 February 2006

  Definition: Pathology of RNA translation.
  The list of genetic diseases caused by mutations that affect mRNA translation is rapidly growing. Although protein synthesis is a fundamental process in all cells, the disease phenotypes show a surprising degree of heterogeneity.
  Studies of some of these diseases have provided intriguing new insights into the functions of proteins involved in the process of translation; for example, evidence suggests that several have other functions in addition (...)

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