Disease group (mechanisms)

Articles

• Niemann-Pick diseases
  16 October 2003

  Niemann-Pick disease, NPDs

• iron-linked diseases
  1 January 2008

  iron-linked disorders

• iron overload disorders
  7 May 2004

  See also
  iron-linked diseases
  References
  De Domenico I, McVey Ward D, Kaplan J. Regulation of iron acquisition and storage: consequences for iron-linked disorders. Nat Rev Mol Cell Biol. 2008 Jan;9(1):72-81. PMID: #17987043#
  Bottomley SS. Secondary iron overload disorders. Semin Hematol. 1998 Jan;35(1):77-86. PMID: #9460811#

• citrullinemia
  25 September 2008

  classic citrullinemia, argininosuccinate deficiency, citrullinuria

• storage diseases
  25 October 2005

  According to the storing cell
  hepatocytic storage diseases
  macrophagic storage diseases
  neuronal storage diseases
  According to the storing organ
  hepatic storage diseases
  splenic storage diseases
  pulmonary storage diseases
  cerebral storage diseases
  renal storage diseases
  medullary storage diseases
  According to the storing organnelle
  lysosomal storage diseases
  endoplasmic reticulum storage diseases
  cytoplasmic storage diseases
  extracellular storage (...)

• X-linked immune diseases
  10 November 2005

  X-linked immune syndromes

• XX ovotesticular DSD
  7 October 2010

  XX OT-DSD; XX true hermaphrodism; XX ovotesticular disorder of sex development: XX true hermaphroditism

• 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 (...)

• DNA repair diseases
  20 June 2005

  DNA repair 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 (...)

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