Monogenic disease

Articles

• CHILD syndrome
  12 December 2006

  CHILD syndrome associates congenital hemidysplasia with ichthyosiform nevus and limb defects (MIM.308050). It is an X-linked dominant trait with lethality for male embryos.
  A symmetric distribution of this nevus can exceptionally be seen in patients with CHILD syndrome.
  The disorder is caused by mutations in NSDHL (MIM.300275), a gene playing an important role in the cholesterol biosynthetic pathway.
  CHILD syndrome is due to loss of function of an enzyme involved in cholesterol (...)

• Niemann-Pick disease type C
  30 May 2003

  Niemann-Pick disease type C, NPC

• VLCAD deficiency
  21 April 2005

  very long-chain acyl-CoA dehydrogenase deficiency

• coenzyme Q10 deficiency
  18 February 2006

  Ubiquinone (coenzyme Q(10) or CoQ(10)) is a lipid-soluble component of virtually all cell membranes, where it functions as a mobile electron and proton carrier.
  CoQ(10) deficiency is inherited as an autosomal recessive trait and has been associated with three main clinical phenotypes: a predominantly myopathic form with central nervous system involvement, an infantile encephalomyopathy with renal dysfunction, and an ataxic form with cerebellar atrophy.
  Etiology
  mutations in COQ2 gene (...)

• Friedreich ataxia
  21 November 2003

  Friedreich ataxia is a degenerative disorder characterized by a progressive cerebellar ataxia with a lack of deep-tendon reflexes, a pyramidal weakness and dysarthria. Increased heart wall thickness is observed in all patients, and 70% of the patients actually develop a life-threatening hypertrophic cardiomyopathy.
  Moreover, 10% of the patients also presented with diabetes mellitus and 20% of the patients had carbohydrate intolerance. Friedreich’s ataxia is a common autosomal recessive (...)

• MCAD deficiency
  20 April 2005

  medium-chain acyl-CoA dehydrogenase deficiency

• Frasier syndrome
  8 April 2004

  Frasier disease

• glycogen storage disease type 4
  25 April 2004

  GSD4; glycogenosis type 4; glycogen storage disease type IV, glycogenosis type IV, GSD IV, glycogen branching enzyme deficiency, GBE1 deficiency, Andersen disease, Brancher deficiency, amylopectinosis, familial cirrhosis with deposition of abnormal glycogen, GSD4

• short rib-polydactyly syndrome type 4
  24 February 2006

  SRPS IV, short rib-polydactyly syndrome type IV, SRPS4, Short-rib polydactyly syndrome Beemer-Langer type, Mohr-Majewski syndrome

• panlobar nephroblastomatosis
  13 January 2006

  pancortical nephroblastomatosis, diffuse pancortical nephroblastomatosis, universal nephroblastematosis

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