Disease

Articles

• Francois-Neetens fleck corneal dystrophy
  25 June 2005

  Francois-Neetens fleck corneal dystrophy (CFD) is a rare, autosomal dominant corneal dystrophy characterized by numerous small white flecks scattered in all layers of the stroma.
  Etiology
  germline mutations in PIP5K3

• Alpers syndrome
  19 June 2005

  Definition: Alpers syndrome is usually characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children.
  The illness usually begins in early life with convulsions. A progressive neurologic disorder characterized by spasticity, myoclonus, and dementia ensues. Status epilepticus is often the terminating development. Definitive diagnosis is shown by postmortem examination of the brain and liver.
  Alpers syndrome can be caused (...)

• FNSCCRCC
  6 October 2005

  familial non-syndromic clear cell renal cell carcinoma

• Aicardi syndrome
  17 June 2005

  corpus callosum agenesis with chorioretinal anomaly

• CEDNIK syndrome
  25 June 2005

  CEDNIK syndrome is a neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma.
  Etiology
  SNAP29 mutations in CEDNIK syndrome (#15968592#)
  References
  Sprecher E, Ishida-Yamamoto A, Mizrahi-Koren M, Rapaport D, Goldsher D, Indelman M, Topaz O, Chefetz I, Keren H, O’brien TJ, Bercovich D, Shalev S, Geiger D, Bergman R, Horowitz M, Mandel H. A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel (...)

• MEN2s
  10 July 2005

  MEN2, multiple endocrine neoplasia type 2

• microcoria-congenital nephrosis syndrome
  13 September 2005

  Pathology
  germline mutation of LAMB2 encodinc laminin beta-2 in Pierson syndrome (microcoria-congenital nephrosis syndrome) (MIM.609049)
  See also
  LAMBs

• Wolfram syndrome
  12 January 2006

  Definition: Autosomal recessive disease associating diabetes insipidus, diabetes mellitus and deafness.
  Synopsis
  growth retardation
  sensorineural hearing loss
  optic atrophy
  pigmentary retinopathy
  ptosis
  nystagmus
  cardiomyopathy
  testicular atrophy
  hydronephrosis
  hydroureter
  neurogenic bladder
  limited mobility of proximal interphalangeal joint
  mental retardation
  seizures
  ataxia
  tremor
  dysphagia
  dysarthria
  stroke-like episodes (...)

• Pendred syndrome
  12 January 2006

  PDS, deafness with goiter

• premature ovarian failure
  15 October 2007

  POF

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