Disease

Articles

• postmenopausal osteoporosis
  2 June 2008

  Etiology
  ARHGEF3 variants in postmenopausal osteoporosis (#18499081#)
  Reference
  Mullin BH, Prince RL, Dick IM, Hart DJ, Spector TD, Dudbridge F, Wilson SG. Identification of a Role for the ARHGEF3 Gene in Postmenopausal Osteoporosis. Am J Hum Genet. 2008 May 21. PMID: #18499081#

• myoclonus-dystonia
  7 October 2003

  Myoclonus-dystonia is a movement disorder characterized by rapid muscle contractions and sustained twisting and repetitive movements. The mode of inheritance is autosomal dominant with reduced penetrance upon maternal transmission, suggesting a putative maternal imprinting mechanism.
  Etiology
  mutations in the epsilon-sarcoglycan gene (SGCE)
  Références: #12444570#

• pyoderma gangrenosum
  11 February 2004

  Definition: Pyoderma gangrenosum (PG) is an uncommon, chronic ulcerative condition of the skin that was first described in 1930. It can occur in any age group, but only 4% of the patients are infants or children. An underlying systemic disease is present in approximately 50% of the patients with PG.
  The most common associations include inflammatory bowel disease, arthritis, lymphoproliferative disorders and chronic recurrent multifocal osteomyelitis (CRMO).
  Pyoderma gangrenosum (PG) is a (...)

• myotonic dystrophy
  22 September 2003

  Myotonic dystrophy (DM), the most common form of muscular dystrophy in adults, is a clinically and genetically heterogeneous neuromuscular disorder. DM is characterized by autosomal dominant inheritance, muscular dystrophy, myotonia, and multisystem involvement.
  Etiology
  Type 1 DM (DM1) is caused by a (CTG)(n) expansion in the 3’ untranslated region of the DMPK gene in 19q13.3.
  Type 2 DM (DM2) but without the DM1 mutation, showed linkage to the 3q21 region and were recently shown to (...)

• Tourette syndrome
  3 September 2004

  Gilles de la Tourette syndrome

• progressive osseous heteroplasia
  30 September 2009

  Progressive Osseous Heteroplasia (HOP), more recently described, shares some similarities with Albrights hereditary osteodystrophy. In HOP, the intramembranous ossifications progressively developped from the dermis to the deeper layer. The genetic abnormality involved the GNAS1 gene leading to an inactivation of the alpha subunit of the G protein-complex.
  See also
  inherited ossifying diseases
  References
  Inherited ossifying diseases. Job-Deslandre C. Joint Bone Spine. 2004 (...)

• Ullrich congenital muscular dystrophy
  23 September 2003

  Ullrich’s congenital muscular dystrophy, UCMD, scleroatonic muscular dystrophy

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