Disease group (molecular)

Articles

• sarcomyopathies
  18 March 2004

  sarcomeropathies, sarcomeric protein diseases, inherited disorders of sarcomeric proteins, inherited disorders of contractile proteins in skeletal and cardiac muscle

• 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.

• G protein diseases
  8 February 2006

  See also
  G proteins
  References
  Farfel Z, Bourne HR, Iiri T. The expanding spectrum of G protein diseases. N Engl J Med. 1999 Apr 1;340(13):1012-20. PMID: #10099144#

• cytoskeletopathies
  18 March 2004

  cytoskeletalopathies

• 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 (...)

• translation diseases
  4 February 2006

  Definition: Pathology of RNA translation.
  The list of genetic diseases caused by mutations that affect mRNA translation is rapidly growing. Although protein synthesis is a fundamental process in all cells, the disease phenotypes show a surprising degree of heterogeneity.
  Studies of some of these diseases have provided intriguing new insights into the functions of proteins involved in the process of translation; for example, evidence suggests that several have other functions in addition (...)

• phosphoinositide signaling diseases
  15 June 2004

  phosphoinositide signaling disorders

• polyalanine repeat diseases
  23 April 2004

  polyalanine expansion diseases

• connexinopathies
  20 April 2004

  Classification by connexin
  connexin-26 (GJB2) (MIM.121011)
  mutations in type I autosomal recessive neurosensory deafness (DFNB1) (MIM.220290)
  autosomal dominant deafness (DFNA3) (MIM.601544)
  autosomal dominant keratitis-ichtyosis-deafness syndrome (MIM.148210)
  palmoplantar keratoderma with deafness (MIM.148350)
  hystrix-like ichthyosis (MIM.602540)
  mutilating keratoderma with ichthyosis (Vohwinkel’s syndrome with ichtyosis)(MIM.604117)
  connexin-30 (GJB6) (MIM.604418) (...)

• NOD2-associated autoinflammatory disease
  10 July 2012

  NOD2-associated diseases. NAID
  Definition: NOD2 is an intracellular microbial sensor of the innate immune system that can act as a potent activator and regulator of inflammation.
  Mutations in the gene encoding NOD2 in humans have been associated with Crohn’s disease (CD), Blau syndrome (BS), and early onset sarcoidosis (EOS).
  These diseases have in common features of dysregulated inflammation, but have very distinct phenotypes, which have been hypothesized to result from either (...)

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