Group of diseases

Articles

• 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 (...)

• Hedgehog-signaling related diseases
  25 November 2003

  Hh-signaling related diseases

• chromatin remodeling diseases
  20 November 2003

  chromatin remodeling disorders

• polyglucosan body diseases
  3 January 2006

  Polyglucosan diseases

• primary ciliary dyskinesia
  23 November 2003

  PCD, immotile cilia syndrome
  Digital case (Digital slides)
  HPC:366 : Bronchiectasis in ciliary dyskinesia
  Definition: Autosomal recessive chronic pulmonary disease.
  Synopsis
  bronchiectasis
  immotile cilia
  ciliary dyskinesia
  chronic rhinitis
  sinusitis
  nasal polyps
  abnormal dynein arms by electron microscopy
  Etiology: 5 loci have been identified. DNAI1 CILD1 MIM.242650 9p21-p13 unknown CILD2 MIM.606763 19q13.3-qter DNAH5 CILD3 MIM.608644 5p15-p14 unknown CILD4 (...)

• trinucleotide repeat diseases
  19 November 2003

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

• chromosomal breakage syndromes
  19 November 2003

  DNA breakage syndromes, breakage syndrome

• G-protein diseases
  11 November 2003

  G protein 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#

• DNA repair diseases
  20 June 2005

  DNA repair disorders

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