Group of diseases

Articles

• autoimmune diseases
  3 July 2003

  auto-immune diseases; autoimmunity
  Definition: Immune reactions against self-antigens-autoimmunity-are an important cause of certain diseases in humans, estimated to affect at least 1% to 2% of the US population.
  A growing number of diseases have been attributed to autoimmunity, but in many the evidence is not firm. Autoantibodies can be found in the serum of apparently normal individuals, particularly in older age groups.
  Furthermore, innocuous autoantibodies are also formed after (...)

• hypertrophic cardiomyopathy
  16 July 2003

  Hypertrophic cardiomyopathies are due to primary defects in sarcomerci function by mutations of genes coding for sarcomeric proteins composing the cardiac sarcomere.
  Images
  Hypertrophic cardiomyopathy: Asymmetrical septal hypertrophy and microscopic disarray -
  https://twitter.com/_SaranyaS_/status/828838400467857408
  Toluidine blue highlighting myocyte disarray in hypertrophic cardiomyopathy.
  https://twitter.com/joemaleszewski/status/786969717093216256
  Synopsis
  asymmetrical (...)

• PKD1L1-associated heterotaxy
  21 November 2003

  lateralization defects, anomalies of body asymmetry, defects in situs orientation; laterality defects;situs anomalies
  Disruption of the establishment of left-right (L-R) asymmetry leads to situs anomalies ranging from situs inversus totalis (SIT) to situs ambiguus (heterotaxy ).
  The genetic causes of laterality defects in humans are highly heterogeneous.
  The identification of bi-allelic PKD1L1 mutations recapitulates previous findings regarding phenotypic consequences of loss of function (...)

• proteoglycans defects
  6 October 2003

  proteoglycan defects

• blood cells disorders
  31 May 2004

  Links
  The Crookston collection

• Congenital anomalies
  5 April 2004

  Congenital anomalies are morphologic defects that are present at birth, but some, such as cardiac defects and renal anomalies, may not become clinically apparent until years later. The term congenital does not imply or exclude a genetic basis for the birth defect.
  It is estimated that about 3% of newborns have a major anomaly, defined as an anomaly having either cosmetic or functional significance. They are the most common cause of mortality in the first year of life and contribute (...)

• Usher diseases
  14 November 2003

  Usher syndromes

• phacomatoses
  26 November 2003

  Classification
  tuberous sclerosis (MIM.191100)
  neurofibromatosis (MIM.162200)
  von Hippel-Lindau disease (MIM.193300)
  Sturge-Weber syndrome (MIM.185300)

• eosinophilic gastrointestinal disorders
  1 March 2004

  EGID

• sclerosing bone disorders
  1 October 2003

  Pathology
  LDL receptor-related protein 5 (LRP5): mutations in osteoporosis-pseudoglioma syndrome and the high-bone-mass phenotype (#12579474#)

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