Monogenic disease

Articles

• glycogen storage diseases
  28 January 2006

  glycogenosis, glycogenoses, GSDs

• tuberous sclerosis
  15 December 2003

  Tuberous sclerosis complex (TSC), Bourneville tuberous sclerosis

• chronic granulomatous disease
  3 October 2003

  CGD

• North American Indian childhood cirrhosis
  9 October 2008

  North American Indian childhood cirrhosis (NAIC) have been described an isolated nonsyndromic form of cholestasis in Ojibway-Cree children from First Nations communities in the Abitibi region of northwestern Quebec, Canada.
  The disease typically presents, in a child who is otherwise well, with transient neonatal jaundice that progresses to biliary cirrhosis requiring hepatic transplantation in childhood or early adulthood.
  The biochemical and histopathologic features of the disease (...)

• 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 (...)

• Meckel syndrome
  18 March 2004

  Meckel-Gruber syndrome, dysencephalia splanchnocystica

• glycogen storage disease type 4
  25 April 2004

  GSD4; glycogenosis type 4; glycogen storage disease type IV, glycogenosis type IV, GSD IV, glycogen branching enzyme deficiency, GBE1 deficiency, Andersen disease, Brancher deficiency, amylopectinosis, familial cirrhosis with deposition of abnormal glycogen, GSD4

• transthyretin-associated amyloidosis
  9 February 2008

  TTR-associated amyloidosis

• VLCAD deficiency
  21 April 2005

  very long-chain acyl-CoA dehydrogenase deficiency

• MCAD deficiency
  20 April 2005

  medium-chain acyl-CoA dehydrogenase deficiency

0 | 10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | ... | 430