Monogenic disease

Articles

• Parkinson disease
  29 September 2003

  Parkinson’s disease, pakinsonism

• chronic recurrent multifocal osteomyelitis
  3 July 2007

  CRMO

• pentalogy of Cantrell
  19 December 2005

  THAS, TAS, thoracoabdominal syndrome, Cantrell syndrome, "shagreen skin" pentalogy

• 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

• trisomy 13
  12 January 2005

  Patau syndrome

• 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 (...)

• glycogen storage diseases
  28 January 2006

  glycogenosis, glycogenoses, GSDs

• Alzheimer disease
  20 October 2003

  Alzheimer’s 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 (...)

• palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal
  31 March 2007

  References
  Parma, P.; Radi, O.; Vidal, V.; Chaboissier, M. C.; Dellambra, E.; Valentini, S.; Guerra, L.; Schedl, A.; Camerino, G. : R-spondin 1 is essential in sex determination, skin differentiation and malignancy. Nature Genet. 38: 1304-1309, 2006. PubMed ID : #17041600#
  Radi, O.; Parma, P.; Imbeaud, S.; Nasca, M. R.; Uccellatore, F.; Maraschio, P.; Tiepolo, L.; Micali, G.; Camerino, G. : XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: genetic (...)

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