Disease

Articles

• hereditary angioedemas
  16 September 2004

  hereditary angioneurotic edema, C1 esterase inhibitor deficiency, hereditary angioedemas

• graft-versus-host disease
  18 March 2004

  Types
  acute GVHD
  chronic GVHD
  Localization
  cutaneous GVHD
  digestive GVHD oesophageal GVHD gastric GVHD intestinal GVHD colonic GVHD
  hepatic GVHD
  pulmonary GVHD
  nodal GVHD

• eosinophilic fasciitis
  1 March 2004

  Synopsis
  eosinophilic fasciitis
  monoclonal gammopathy
  thyroglobulin antibodies
  pericarditis
  colitis
  References
  Naschitz JE, Yeshurun D, Miselevich I, Boss JH. Colitis and pericarditis in a patient with eosinophilic fasciitis. A contribution to the multisystem nature of eosinophilic fasciitis. J Rheumatol. 1989 May;16(5):688-92. PMID: #2502625#

• IgG4-associated disease
  19 November 2003

  hyper-IgG4 disease, IMAD, IgG4 syndrome, IgG4 disease, IgG4-associated multifocal systemic fibrosclerosis, IgG4-associated immune complex multiorgan autoimmune disease, IgG4-related plasmacytic disease, hyper-IgG4 disease, multifocal systemic fibrosclerosis (MSF), systemic multifocal fibrosclerosis, inflammatory fibrotic disease, IgG4-Related Disease; IgG4-assotiated diseases; IgG4-related disease
  Definition: The IMAD or ’hyper-IgG4 disease’ is a chronic inflammatory disease, characterized (...)

• ankylosing spondylitis
  17 August 2004

  Susceptibility
  major histocompatibility complex (MHC) region
  HLA B27
  rs13202464 within the MHC region mainly represents the risk effect of HLA-B*27 variants (including HLA-B*2704, HLA-B*2705 and HLA-B*2715) (Chinese)
  Locus 2q13 (IL1 cluster) (#15309690#)
  EDIL3 and HAPLN1 at 5q14.3 (rs4552569) (bone formation and cartilage development)
  ANO6 at 12q12 (rs17095830) (bone formation and cartilage development)
  2p15 (rs10865331)
  Reviews
  Sims AM, Wordsworth BP, Brown MA. Genetic (...)

• Roberts syndrome
  19 January 2006

  RBS, Roberts-SC phocomelia syndrome

• HHH syndrome
  25 September 2008

  hyperornithinemia, hyperammonemia, homocitrullinuria syndrome

• argininemia
  25 September 2008

  Definition: Arginase deficiency is an autosomal recessive inborn error of metabolism caused by a defect in the final step in the urea cycle, the hydrolysis of arginine to urea and ornithine.
  Etiology
  argininemia is caused by mutation in the gene encoding liver arginase (ARG1) (MIM.608313).
  Nota bene`: Urea cycle diseases are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the (...)

• primary erythermalgia
  9 January 2006

  Erythermalgia is an inherited painful neuropathy. Inherited erythermalgia (also termed erythromelalgia) is characterized by severe pain in the limbs in response to mild thermal stimuli or exercise.
  Etiology
  primary erythermalgia can be caused by mutation in the SCN9A gene (MIM.603415), encoding a voltage-gated sodium channel Na(v)1.7 SCN9A is selectively expressed within nociceptive dorsal root ganglion and sympathetic ganglion neurons. Shifts in activation and deactivation, and (...)

• hidrotic ectodermal dysplasia type 1
  26 January 2006

  ED1, X-linked hidrotic ectodermal dysplasia

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