Monogenic disease

Articles

• MCKD2
  21 January 2006

  autosomal dominant medullary cystic kidney disease type 2, ADMCKD2

• Noonan syndrome
  17 November 2003

  Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births.
  The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated (...)

• 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 (...)

• Ehlers-Danlos syndrome type 4
  24 January 2005

  Ehlers-Danlos syndrome type IV, EDS4

• transthyretin-associated amyloidosis
  9 February 2008

  TTR-associated amyloidosis

• amyotrophic lateral sclerosis
  23 September 2003

  ALS

• NKX2E
  19 June 2005

  NKX2-5

• enzymatic diseases
  12 February 2006

  genetic enzymes defects, enzyme diseases

• Pfeiffer syndrome
  1 December 2004

  acrocephalosyndactyly, Noack syndrome, craniofacial-skeletal- dermatologic dysplasia

• panlobar nephroblastomatosis
  13 January 2006

  pancortical nephroblastomatosis, diffuse pancortical nephroblastomatosis, universal nephroblastematosis

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