Disease

Articles

• trichothiodystrophy
  19 November 2003

  Xeroderma pigmentosum type B, XPB, Xeroderma pigmentosum type D, XPD, Tay syndrome, TTD

• Carney complex
  23 June 2003

  Carney’s complex

• Tangier disease
  21 April 2004

  ABCA1 deficiency WP
  Tangier disease is a severe HDL deficiency syndrome characterized by accumulation of cholesterol in tissue macrophages and prevalent atherosclerosis. People with Tangier disease have defective ABCA1 transporters resulting in a greatly reduced ability to transport cholesterol out of their cells.
  Clinics
  People affected by this condition also have slightly elevated amounts of fat in the blood (mild hypertriglyceridemia) and disturbances in nerve function (...)

• Jeune syndrome
  26 May 2004

  Jeune’s asphyxiating thoracic dystrophy, Jeune dystrophy, asphyxiating thoracic dysplasia, ATDs

• tuberous sclerosis
  15 December 2003

  Tuberous sclerosis complex (TSC), Bourneville tuberous sclerosis

• Fabry disease
  24 September 2003

  Fabry’s disease, Anderson-Fabry disease, Angiokeratoma corporis diffusum, Ruiter-Pompen-Wyers syndrome, Ceramide trihexosidosis, Sweeley-Klionsky disease
  Definition: Fabry disease is an X-linked recessive inborn error of glycosphingolipid catabolism due to mutations in the GLA gene that encodes the lysosomal exoglycohydrolase alpha-galactosidase A (alpha-GalA) (MIM.301500)
  Fabry disease is an X-linked generalized progressive debilitating lysosomal storage disorder. The disease usually (...)

• Huntington disease
  22 September 2003

  Huntington’s disease, Huntington’s chorea

• xeroderma pigmentosum
  6 March 2004

  XP

• Angelman syndrome
  2 October 2003

  Angelman’s syndrome

• neonatal citrin deficiency
  9 March 2010

  neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD); neonatal onset type 2 citrullinemia; citrin deficiency, neonatal onset

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