Disease group (molecular)

Articles

• desminopathies
  19 March 2004

  Group of diseases caused by anomalies of desmin.
  Types (exemples)
  desmin myopathy
  Synopsis
  granulofilamentous deposits of mutated desmin
  References
  Paulin D, Huet A, Khanamyrian L, Xue Z. Desminopathies in muscle disease. J Pathol. 2004 Nov;204(4):418-27. PMID: #15495235#
  Wang X, Osinska H, Gerdes AM, Robbins J. Desmin filaments and cardiac disease: establishing causality. J Card Fail. 2002 Dec;8(6 Suppl):S287-92. PMID: #12555134#
  Zhang J, Kumar A, Stalker HJ, Virdi G, Ferrans (...)

• hyper-IgE recurrent infection syndromes
  30 June 2011

  HIES, hyper-IgE recurrent infection syndrome

• cardiac channelopathies
  18 March 2004

  In arrhythmogenic disorders, the long QT syndromes and Brugada syndrome, mutations have been described in a number of ion channel proteins, including cardiac potassium (KVLQT1, HERG and minK) and sodium (SCN5A) channels.

• protein misfolding diseases
  14 January 2006

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

• 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 (...)

• ciliopathies
  25 October 2006

  cilia-related diseases

• porphyrias
  4 February 2006

  porphyria

• myofibrillar myopathies
  7 March 2004

  The term myofibrillar myopathy was proposed in 1996 to encompass the spectrum of disorders characterized by an accumulation of myofiber degradation products with abnormal expression of various proteins.
  Myofibrillar myopathy (MFM) is a non-committal term for a pathological pattern of myofibrillar dissolution associated with accumulation of myofibrillar degradation products and ectopic expression of multiple proteins that include desmin, alphaB-crystallin (alphaBC), dystrophin and (...)

• neurofilamentopathies
  18 March 2004

  Pathology (neurofilamentopathies)
  NEFL germline mutations in
  autosomal dominant Charcot-Marie-Tooth disease of the 2E axonal form (CMT2E) (MIM.607684)
  germline mutations in Charcot-Marie-Tooth disease of the 1F type (CMT1F) (MIM.607734)
  NEFH variants in susceptibility to amyotrophic lateral sclerosis (ALS) (MIM.105400)
  See also
  intermediate filaments
  neurofilaments
  NEFL
  NEF3 (NEFM)
  NEFH
  References
  Lariviere RC, Julien JP. Functions of intermediate filaments in (...)

• dystrophinopathies
  19 March 2004

  See also
  dystrophin
  dystrophin-glycoprotein complex

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