Disease group (mechanisms)

Articles

• thrombotic microangiopathy
  15 April 2005

  thrombotic microangiopathies, Moschkowitz syndrome, TMA

• fibrotic lung diseases
  23 August 2004
• Niemann-Pick diseases
  16 October 2003

  Niemann-Pick disease, NPDs

• systemic histiocytoses
  6 February 2004

  Types
  Langerhans histiocytosis
  non-Langerhans histiocytoses Erdheim-Chester disease systemic juvenile xanthogranuloma generalized eruptive histiocytoma multicentric reticulohistiocytosis (#14639398#, #2192569#) xanthoma disseminatum
  References
  Weitzman S, Jaffe R. Uncommon histiocytic disorders: the non-Langerhans cell histiocytoses. Pediatr Blood Cancer. 2005 Sep;45(3):256-64. PMID: #15547923#
  Jaffe R. The other histiocytosis. Pediatr Dev Pathol. 2004 Jan-Feb;7(1):2-4. PMID: (...)

• inherited bleeding disorders
  14 June 2005

  disorders of platelet adhesion and aggregation

• iron-linked diseases
  1 January 2008

  iron-linked disorders

• lipid absorption diseases
  24 October 2005

  lipid absorption disorders

• inherited presenile dementias
  29 March 2008

  presenile degenerative brain disorders

• mucopolysaccharidoses
  28 January 2006

  Definition: The mucopolysaccharidoses (MPS) are a group of closely related syndromes that result from genetically determined deficiencies of lysosomal enzymes involved in the degradation of mucopolysaccharides (glycosaminoglycans).
  They are a group of inherited disorders caused by a lack of specific lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs), or mucopolysaccharides. The accumulation of partially degraded GAGs causes interference with cell, tissue, and organ (...)

• 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 (...)

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