Monogenic disease

Articles

• thanatophoric dysplasia
  5 July 2005

  thanatophoric dwarfism, thanatophoric dysplasias

• porphyrias
  4 February 2006

  porphyria

• Cockayne syndrome
  26 May 2004

  Cockayne syndrome type I, CKN1, Cockayne disease

• 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 (...)

• 11-hydroxylase deficiency
  26 May 2009

  11β-Hydroxylase deficiency, 11beta-hydroxylase deficiency

• 46,XY gonadal dysgenesis
  23 August 2007

  Gonadal dysgenesis XY female type; GDXY; 46,XY gonadal dysgenesis, Swyer syndrome; 46,XY gonadal disorder of sex development, 46,XY gonadal DSD; XY gonadal dysgenesis

• 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

• 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 (...)

• monosomy X
  25 January 2005

  Turner syndrome, constitutional monosomy X, Turner-Albright syndrome, Ullrich-Turner syndrome

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