Disease

Articles

• 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

• SC phocomelia syndrome
  19 January 2006

  SC pseudothlidomide syndrome

• WAGR syndrome
  11 October 2005

  Definition: Microdeletion syndrome.
  Synospsis
  Wilms tumor predisposition
  aniridia
  genital malformations
  urinary malformaions
  renal malformations
  renal anomalies small glomeruli (#17533022#)
  rare congenital diaphragmatic hernia (#15779010#, #17194330#)
  non-WIlms cystic tumor of the kidney (dysgenetic cysts) (#17295033#)
  Genes involved:
  WT1
  References
  van Heyningen V, Hoovers JM, de Kraker J, Crolla JA. Elevated risk of Wilms tumour in aniridia cases with (...)

• Johanson-Blizzard syndrome
  11 February 2006

  Definition: Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition characterized by pathognomonic facies and a constellation of other features most notably exocrine pancreatic insufficiency, oligodontia, growth retardation, hearing loss, mental retardation, scalp defects, hypothyroidism and imperforate anus.
  Synopsis
  short stature
  low birth weight
  failure to thrive
  situs inversus
  craniofacial anomalies
  microcephaly
  midline skin dimples over (...)

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