Disease

Articles

• Robinow-Sorauf syndrome
  3 April 2005

  Autosomal dominant disease
  Synopsis
  flat facies
  thin, long, pointed nose
  shallow orbits
  hypertelorism
  plagiocephaly (asymmetry of orbits)
  strabismus
  broad great toes
  duplicated great toe distal phalanx
  Etiology
  mutations in the TWIST gene (MIM.601622) Robinow-Sorauf syndrome is merely part of the phenotypic spectrum of Saethre-Chotzen syndrome (MIM.101400) which is also caused by TWIST (...)

• SITCDKP syndrome
  18 March 2005

  Balci syndrome, Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas, situs inversus totalis with reno-pancreatic dysplasia

• Carney complex
  23 June 2003

  Carney’s complex

• Perlman syndrome
  31 May 2005

  association renal hamartoma, nephroblastomatosis and fetal gigantism. Ent. Nom. 1973.

• Krabbe disease
  4 June 2006

  globoid cell leukodystrophy, GLD, GCL’ globoid cell leukoencephalopathy, galactosylceramide beta-galactosidase deficiency, galactocerebrosidase deficiency, GALC deficiency

• Hashimoto thyroiditis
  12 January 2006

  Hashimoto’s thyroiditis; Struma lymphomatosa (lymphocytic thyroiditis); chronic lymphocytic thyroiditis, Hashimoto thyroiditis, thyroid autoimmunity
  Definition: Hashimoto thyroiditis (or chronic lymphocytic thyroiditis) is the most common cause of hypothyroidism in areas of the world where iodine levels are sufficient. It is characterized by gradual thyroid failure because of autoimmune destruction of the thyroid gland.
  Images
  Cytology FNA : (...)

• DDP syndrome
  27 January 2006

  The DDP syndrome is an X-linked recessive disorder also known as the Mohr-Tranebjaerg syndrome. It is associated with a novel defect in mitochondrial protein import. Therefore, the DDP syndrome should be considered as the first example of a new group of mitochondrial import diseases.
  The defective gene is TIMM8A, homologous to the yeast protein Tim8, which belongs to a family of proteins that are involved in intermembrane protein transport in mitochondria.
  Etiology
  Mohr-Tranebjaerg (...)

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