Disease group (mechanisms)

Articles

• inherited bleeding disorders
  14 June 2005

  disorders of platelet adhesion and aggregation

• autosomal dominant primary immunodeficiencies
  5 February 2008

  ADPID

• fibrotic lung diseases
  23 August 2004
• inherited ossifying diseases
  13 September 2007

  Inherited ossifying diseases are relatively uncommon diseases leading ta a great disability and life-threatening complications.
  Types
  Fibrodysplasia Ossificans Progressiva (FOP) FOP is characterized by the association of skeletal abnormalities mainly in great toes, and enchondral ossifications in tendons and muscles. BMP dysregulation seems to be the main underlying mechanism of the heterotopic ossifications. The genetic basis remain controversial between a mutation on chromosome 4 or (...)

• severe congenital neutropenias
  13 April 2004

  infantile genetic agranulocytosis, severe congenital neutropenia

• mucopolysaccharidoses
  28 January 2006

  Definition: The mucopolysaccharidoses (MPS) are a group of closely related syndromes that result from genetically determined deficiencies of lysosomal enzymes involved in the degradation of mucopolysaccharides (glycosaminoglycans).
  They are a group of inherited disorders caused by a lack of specific lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs), or mucopolysaccharides. The accumulation of partially degraded GAGs causes interference with cell, tissue, and organ (...)

• storage diseases
  25 October 2005

  According to the storing cell
  hepatocytic storage diseases
  macrophagic storage diseases
  neuronal storage diseases
  According to the storing organ
  hepatic storage diseases
  splenic storage diseases
  pulmonary storage diseases
  cerebral storage diseases
  renal storage diseases
  medullary storage diseases
  According to the storing organnelle
  lysosomal storage diseases
  endoplasmic reticulum storage diseases
  cytoplasmic storage diseases
  extracellular storage (...)

• X-linked immune diseases
  10 November 2005

  X-linked immune syndromes

• citrullinemia
  25 September 2008

  classic citrullinemia, argininosuccinate deficiency, citrullinuria

• mastocytosis
  16 May 2006

  mastocytoses
  2016 WHO classification
  cutaneous mastocytosis / CM
  maculopapular cutaneous mastocytosis / MPCM = urticaria pigmentosa / UP
  diffuse cutaneous mastocytosis / DCM
  mastocytoma of the skin / cutaneous mastocytoma
  systemic mastocytosis / SM
  indolent systemic mastocytosis
  smoldering systemic mastocytosis
  SM with associated hematologic neoplasm / SM-AHN / SH-AHNMD
  aggressive systemic mastocytosis
  mast cell leukemia / MCL
  mast cell sarcoma / MCS
  Images (...)

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