Disease

Articles

• intrahepatic cholestasis of pregnancy
  28 July 2007

  IHCP, ICP

• congenital bile adid synthesis defect type 1
  27 May 2009

  CBAS1, congenital bile adid synthesis disease type 1

• congenital bile adid synthesis defect type 2
  27 May 2009

  CBAS2

• progressive familial intrahepatic cholestasis type 2
  27 May 2009

  PFIC2

• pipecolic acidemia
  26 March 2010

  Pipecolic acidemia (also called "hyperpipecolic acidemia" or "hyperpipecolatemia") is a very rare metabolic disorder that is caused by a peroxisomal defect.
  It is characterized by an increase in pipecolic acid levels in the blood, leading to neuropathy and hepatomegaly.
  It can be associated with Refsum disease.
  See also
  PHYH
  References
  Tranchant C, Aubourg P, Mohr M, Rocchiccioli F, Zaenker C, Warter JM (October 1993). A new peroxisomal disease with impaired phytanic and pipecolic (...)

• AAA syndrome
  16 May 2007

  triple A syndrome, Allgrove syndrome, achalasia-addisonianism-alacrima syndrome

• penile lichen sclerosus
  15 December 2003

  Lichen sclerosus is an unusual chronic mucocutaneous condition of the penis. It has been found in association with invasive penile cancer, and squamous cell carcinoma has been reported in patients with longstanding lichen sclerosus.

• Refsum disease
  23 September 2003

  Refsum’s disease

• balanitis xerotica obliterans
  26 October 2007

  Balanitis xerotica obliterans (BXO)

• juvenile polyposis
  11 March 2004

  Juvenile polyposis syndrome; JPS; JPD; Juvenile polyposis disease; digestive juvenile polyposis
  Autosomal dominant disease.
  JPS presents in childhood or adulthood with a history of rectal bleeding. The juvenile polyps may be limited to the colorectum or generalized throughout the gastrointestinal tract. Rarely, the stomach is the principal site of involvement.
  Genetic types
  MADH4-associated juvenile polyposis (SMAD4)
  BMPR1A-associated juvenile polyposis
  Images
  Juvenile polyposis. (...)

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