Disease group (molecular)

Articles

• enzymatic diseases
  12 February 2006

  genetic enzymes defects, enzyme diseases

• hyper-IgE recurrent infection syndromes
  30 June 2011

  HIES, hyper-IgE recurrent infection syndrome

• ciliopathies
  25 October 2006

  cilia-related diseases

• protein misfolding diseases
  14 January 2006

  protein-misfolding diseases, misfolding diseases, protein folding associated diseases

• serpinopathies
  24 January 2006

  In humans, several serpin mutations are linked to diseases.
  Serpins are vulnerable to mutations that result in protein misfolding and the formation of inactive long chain polymers (serpinopathies).
  Serpin polymerisation reduces the amount of active inhibitor, as well as accumulation of serpin polymers causing cell death and organ failure.
  For example, the serpin alpha1-antitrypsin is primarily produced in the liver, and antitrypsin polymerisation causes hepatocytic necrosis and liver (...)

• laminopathies
  15 September 2003

  ’Laminopathies’ are associated with defects in proteins of the nuclear envelope. Most laminopathy mutations have been mapped to the A-type lamin gene, which is expressed in most adult cell types.
  Laminopathies comprise a group of inherited diseases with variable clinical phenotypes, caused by mutations in the lamin A/C gene (LMNA).
  A prominent feature in several of these diseases is muscle wasting, as seen in Emery Dreifuss muscle dystrophy, dilated cardiomyopathy and limb-girdle muscular (...)

• ribosomopathies
  30 March 2010

  Ribosomopathies comprise a collection of disorders in which genetic abnormalities cause impaired ribosome biogenesis and function, resulting in specific clinical phenotypes.
  Congenital mutations in RPS19 and other genes encoding ribosomal proteins cause Diamond-Blackfan anemia, a disorder characterized by hypoplastic, macrocytic anemia.
  Mutations in other genes required for normal ribosome biogenesis have been implicated in other rare congenital syndromes:
  Shwachman-Diamond syndrome (...)

• WT1-associated diseases
  11 May 2004

  WT1 mutations-associated disorders, WT1-related diseases, WT1-related disorders

• telomeric diseases
  16 February 2006

  telomere diseases

• porphyrias
  4 February 2006

  porphyria

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