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

• Zellweger disease
  17 March 2005

  Zellweger syndrome

• trisomy 22
  9 May 2005

  Trisomy 22 is frequently seen in first trimester miscarriages but is extremely rare in life-borns. Trisomy 22 is commonly found among spontaneous abortions, second in frequency of occurrence only to trisomy 16. Most earlier reports of surviving trisomy 22 cases in the literature are thought to represent the product of unbalanced 11;22 translocations or the result of undetected mosaicism, since this condition is thought to manifest early embryonic or fetal lethality.
  Types
  non-mosaic (...)

• 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 (...)

• glycogen storage diseases
  28 January 2006

  glycogenosis, glycogenoses, GSDs

• Alzheimer disease
  20 October 2003

  Alzheimer’s disease

• Niemann-Pick disease type C
  30 May 2003

  Niemann-Pick disease type C, NPC

• 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 (...)

• Marfan disease
  17 November 2003

  Marfan’s disease, Marfan 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 (...)

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