Disease group (etiology)

Articles

• endoplasmic reticulum storage diseases
  6 August 2007

  Examples
  hereditary hypofibrinogenemia (primary hypofibrinogenemia)
  α1-antitrypsin deficiency
  NB: α1-antitrypsin deficiency and familial hypofibrinogenemia with hepatocellular fibrinogen accumulation are examples of a plasma deficiency due to failure of hepatic protein secretion.
  Localization
  hepatic endoplasmic reticulum storage diseases
  References
  Rubbia-Brandt L, Neerman-Arbez M, Rougemont AL, Male PJ, Spahr L. Fibrinogen gamma375 arg—>trp mutation (fibrinogen aguadilla) causes (...)

• inherited cardiovascular diseases
  18 March 2004

  References
  Bowles NE, Bowles KR, Towbin JA. The "final common pathway" hypothesis and inherited cardiovascular disease. The role of cytoskeletal proteins in dilated cardiomyopathy. Herz. 2000 May;25(3):168-75. PMID: #10904835#

• hepatic storage diseases
  15 June 2004

  Digital cases
  Case 247 : glycogen storage disease type 3 - GSD3
  Types
  mucopolysaccharidoses
  mannosidosis/fucosidosis
  sialidosis
  mucolipidosis
  GM1 general gangliosidosis
  cystinosis
  metachromatic leukodystrophy
  Farber disease
  glycogen storage diseases glycogen storage disease type 1 (GSD1) glycogen storage disease type 2 (GSD2) glycogen storage disease type 3 (GSD3) glycogen storage disease type 4 (GSD4)
  hepatic lysosomal storage diseases Wolman disease Gaucher (...)

• thyroiditis
  15 April 2005

  Digital cases
  JRC:51 : Measles thyroiditis.
  HPC:306 : Thyroid marginal zone B-cell lymphoma (Thyroid MALT lymphoma) and lymphocytic thyroiditis
  Etiology
  infectious thyroiditis viral thyroiditis measles thyroiditis
  autoimmune thyroiditis Hashimoto thyroiditis
  Riedel thyroiditis
  fibrosing thyroiditis Riedel thyroiditis focal fibrosing thyroiditis (FFT)
  References

• autoimmune bullous diseases
  5 February 2006

  autoimmune bullouse dermatoses

• constitutional trisomies
  8 May 2005

  constitutional trisomy; trisomies

• mycobacterial infections
  22 August 2004

  Digital cases
  HPC:154 : Mycobacterial adenitis
  Mycobacterial Pseudomembranous Tracheitis by Ed Euthman
  Classification
  tuberculosis (Mycobacterium tuberculosis)
  leprosy (Mycobacterium leprae)
  atypical mycobacterioses (atypical mycobacterial infection)
  Predisposition
  predisposition to mycobacterial infections mendelian predisposition to mycobacterial infections autosomal predisposition to mycobacterial infections X-linked predisposition to mycobacterial infections (...)

• neurometabolic diseases
  18 January 2005

  neurometabolic disorders

• infectious colitis
  10 January 2005

  Types
  viral colitis CMV colitis HSV colitis adenoviral colitis
  bacterial colitis salmonella colitis colonic spirochetosis Campylobacter colitis colonic tuberculosis
  fungal colitis colonic histoplasmosis paracoccidioides brasiliensis
  parasitic colitis colonic amibiasis Dientamoeba fragilis colitis (#9443114#) colonic balantidiasis (Balantidium coli ) Strongyloides stercoralis colitis (Strongyloidiasis colitis ) colonic schistosomiasis
  Images
  Campylobacter colitis (...)

• WT1-associated diseases
  11 May 2004

  WT1 mutations-associated disorders, WT1-related diseases, WT1-related disorders

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