Disease group (mechanisms)

Articles

• autosomal dominant primary immunodeficiencies
  5 February 2008

  ADPID

• hepatorenal dysplasia
  7 December 2004

  renohepatic dysplasias

• inherited bleeding disorders
  14 June 2005

  disorders of platelet adhesion and aggregation

• lipid absorption diseases
  24 October 2005

  lipid absorption disorders

• X-linked immune diseases
  10 November 2005

  X-linked immune syndromes

• inherited ossifying diseases
  30 September 2009

  Inherited ossifying disease
  Inherited ossifying diseases are relatively uncommon diseases leading ta a great disability and life-threatening complications.
  The fibrodysplasia ossificans progressiva is characterized by the association of skeletal abnormalities mainly in great toes, and enchondral ossifications in tendons and muscles. BMP dysregulation seems to be the main underlying mechanism of the heterotopic ossifications. The genetic basis remain controversial between a mutation on (...)

• inflammatory barrier diseases
  18 January 2006

  Chronic inflammatory diseases such as Crohn disease, atopic eczema, asthma and psoriasis are triggered by hitherto unknown environmental factors that function on the background of some polygenic susceptibility.
  See also
  intestinal barrier
  References
  Schreiber S, Rosenstiel P, Albrecht M, Hampe J, Krawczak M. Genetics of Crohn disease, an archetypal inflammatory barrier disease. Nat Rev Genet. 2005 May;6(5):376-88. PMID: (...)

• DNA repair diseases
  20 June 2005

  DNA repair disorders

• intracellular movement diseases
  9 January 2006

  intracellular movement disorders

• citrullinemia
  25 September 2008

  classic citrullinemia, argininosuccinate deficiency, citrullinuria

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