Group of diseases

Articles

• limb-girdle muscular dystrophies
  15 October 2003

  Classification
  limb-girdle muscular dystrophy 1A (LGMD1A) (MIM.159000)
  Etiology
  Limb girdle muscular dystrophies are caused by mutations in several genes that encode for proteins with divergent functions.
  The most common LGMD forms result from sarcolemmal adhesion complex defects (sarcoglycans), but also other sarcolemmal molecules (caveolin-3 and dysferlin), nuclear membrane (lamin A/C) components and other types of molecules underlie LGMD.
  Three sarcomeric proteins have been to (...)

• chromosomal diseases
  5 April 2004

  Definition: Chromosomal diseases are diseases caused by chomosomal anomalies .
  It is estimated that 50% of spontaneous abortuses during the early months of gestation have a demonstrable chromosomal abnormality; there are, in addition, numerous smaller detectable errors and many others still beyond our range of identification. About 1% of all newborn infants possess a gross chromosomal abnormality.
  Chromosomal anomalies
  numerical chromosomal anomalies
  ploidy anomalies (aneuploidy) (...)

• glycogen storage diseases
  28 January 2006

  glycogenosis, glycogenoses, GSDs

• mitochondrial protein synthesis disorders
  20 November 2003

  References
  Jacobs HT. Disorders of mitochondrial protein synthesis. Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R293-301. Epub 2003 Aug 19. PMID: #12928485#
  Jacobs HT, Holt IJ. The np 3243 MELAS mutation: damned if you aminoacylate, damned if you don’t. Hum Mol Genet. 2000 Mar 1;9(4):463-5. PMID: #10699169#

• myotubular myopathies
  24 November 2003

  Types
  autosomal myotubular myopathies
  X-linked myotubular myopathy
  Etiology
  myotubularin (hMTM1) is mutated in X-linked myotubular myopathy (MIM.310400).
  References
  Laporte J, Blondeau F, Buj-Bello A, Mandel JL. The myotubularin family : from genetic disease to phosphoinositide metabolism. Trends Genet. 2001 Apr ;17(4):221-8. PMID : #11275328#

• conformational dementias
  29 October 2003

  Past studies of the molecular-genetic basis of disease have focused on mutations that cause either the deficiency or the inactivity of a protein.
  More recently, however, it has been realized that many diseases arise from mutations that primarily affect neither expression nor function, but result in a protein with decreased conformational stability.
  This conformational instability can intermittently cause the affected protein to unfold and then undergo intermolecular linkage, which results (...)

• chromatin remodeling diseases
  20 November 2003

  chromatin remodeling disorders

• hepatic vascular malformations
  24 November 2003

  liver vascular malformations

• histiocytoses
  19 July 2003

  histiocytopathies, histiocytosis, histiocytic disorders, histiocytic tumors, histiocytic proliferations, aggressive histiocytic disorders
  Digital cases
  HPC:290 : Nodal Histiocytic infiltration in Rosai-Dorfman disease
  HPC:338 : Nodal Langerhans histiocytosis with tuberculoid granulomatous pattern
  Cases
  Case 11335: Femoral Langerhans cell histiocytosis
  Case 12691: Faciocranial Langerhans cell histiocytosis
  Definition: Histiocytoses are a heterogeneous group of disorders that are (...)

• interstitial lung diseases
  1 March 2004

  diffuse parenchymal lung diseases (DPLD), interstitial pulmonary diseases

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