Disease

Articles

• Goldberg-Shprintzen syndrome
  25 June 2005

  Definition: Goldberg-Shprintzen syndrome associates microcephaly, mental retardation, Hirschsprung disease, bilateral generalized polymicogyria.
  The Goldberg-Shprintzen syndrome is an autosomal recessive MCA-MR syndrome combining Hirschsprung disease, moderate mental retardation, microcephaly, polymicrogyria, facial dysmorphic features (hypertelorism, prominent nose, synophrys, sparse hair), cleft palate and iris coloboma.
  GSS is a rare condition within the group of patients with MR and (...)

• juvenile nephronophthisis
  27 October 2003

  Nephronophthisis comprises a group of autosomal recessive cystic kidney diseases, which constitute the most frequent genetic cause for end-stage renal failure in children and young adults.
  Synopsis
  medullary cystic disease renal medullary cysts renal corticomedullary cysts renal interstitial fibrosis renal tubular atrophy relatively spared glomeruli
  nephronophthisis-associated hepatic disease nephronophthisis-associated congenital hepatic fibrosis hepatic fibrosis
  Variants (...)

• thrombotic microangiopathy
  15 April 2005

  thrombotic microangiopathies, Moschkowitz syndrome, TMA

• Tay-Sachs disease
  18 June 2005

  Tay-Sachs disease, the most common form of GM2 gangliosidosis, results from mutations that affect the α-subunit locus on chromosome 15 and cause a severe deficiency of hexosaminidase A. This disease is especially prevalent among Jews, particularly among those of Eastern European (Ashkenazic) origin, in whom a carrier rate of 1 in 30 has been reported.
  Etiology
  Tay-Sachs disease is caused by mutation in the alpha subunit of the hexosaminidase A gene (HEXA) (MIM.606869)
  Tay-Sachs Disease (...)

• chronic granulomatous disease
  3 October 2003

  CGD

• Bardet-Biedl syndrome
  29 September 2003

  BBS

• OLEDAID
  26 January 2006

  X-linked anhidrotic ectodermal dysplasia with immunodeficiency; X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency; XL-EDA-ID; OL-EDA-ID; anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema

• metachromatic leukodystrophies
  4 June 2006

  arysulfatase A deficiency, ARSA deficiency, cerebroside sulfatase deficiency, sulfatide lipidosis, MLD, metachromatic leukodystrophy, sulfatase deficiency

• Hirschsprung disease
  6 October 2003

  Hirschsprung’s disease, congenital intestinal aganglionosis, digestive aganglionnosis; digestive aganglionoses PO1 PO2
  Definition: Aganglionic megacolon is associated with congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. The disorder is genetically heterogeneous.
  Digital cases
  HPC:90 : rectal mucosa biopsies
  HPC:98 : rectal mucosa biopsies
  HPC:151 : Hirschsprung disease - Rectal (...)

• cryptococcosis
  14 March 2007

  cryptococcal infections, cryptococcoses

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