Disease group (mechanisms)

Articles

• 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 (...)

• 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 (...)

• Niemann-Pick diseases
  16 October 2003

  Niemann-Pick disease, NPDs

• cryopyrinopathies
  13 October 2009

  Cryopyrinopathies are three disorders, which overlap in their clinical expression, arise from gain-of-function mutations of the gene encoding cryopyrin, an essential component of the inflammasome.
  As a result of these mutations, hyperactivation of the inflammasome results in increased caspase-1 generation leading to hypersecretion of IL-1 Another proinflammatory event, activation of IL-6, is mediated via NF-β. The phenotypic differences among the three cryopyrinopathies are related to (...)

• inherited ossifying diseases
  13 September 2007

  Inherited ossifying diseases are relatively uncommon diseases leading ta a great disability and life-threatening complications.
  Types
  Fibrodysplasia Ossificans Progressiva (FOP) FOP 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 chromosome 4 or (...)

• gangliosidoses
  29 April 2016

  Types
  GM1 gangliosidosis
  GM2 gangliosidosis
  See also
  lipidic metabolic diseases

• inherited ichthyoses
  27 October 2010

  inherited ichthyosis

• fibrotic lung diseases
  23 August 2004
• polyposes
  14 March 2007

  polyposis

• XX ovotesticular DSD
  7 October 2010

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

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