Monogenic disease

Articles

• Smith-Lemli-Opitz syndrome
  25 November 2003

  SLOS, SLO syndrome, RSH syndrome, Rutledge lethal multiple congenital anomaly syndrome, polydactyly-sex reversal-renal hypoplasia syndrome, letahl acrodysgenital syndrome

• glycogen storage diseases
  28 January 2006

  glycogenosis, glycogenoses, GSDs

• short rib-polydactyly syndrome type 1
  17 May 2006

  SRPS1, SRPS type 1, Saldino-Noonan syndrome, polydactyky with neonatal chondrodystrophy, short rib-polydactyly syndrome type I

• 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 (...)

• Kallmann syndromes
  14 November 2006

  Kallmann-Morsier syndrome

• Parkinson disease
  29 September 2003

  Parkinson’s disease, pakinsonism

• JP-HHT syndrome
  14 March 2005

  juvenile polyposis and hereditary hemorrhagic telangiectasia (HHT)

• glycogen storage disease type 3
  9 February 2006

  glycogenosis type 3, glycogen storage disease type III, Forbes disease, limit dextrinosis, GSD type 3, Cori disease, Cori’s disease

• microcoria-congenital nephrosis syndrome
  13 September 2005

  Pathology
  germline mutation of LAMB2 encodinc laminin beta-2 in Pierson syndrome (microcoria-congenital nephrosis syndrome) (MIM.609049)
  See also
  LAMBs

• familial mediterranean fever
  15 April 2005

  FMF

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