Monogenic disease

Articles

• Parkinson disease
  29 September 2003

  Parkinson’s disease, pakinsonism

• OXPHOS diseases
  27 January 2005

  OXPHOS deficiency, anomalies of oxydative phosphorylation, mitochondrial respiratory-chain diseases, mitochondrial cytopathy, mitochondriopathies

• chronic granulomatous disease
  3 October 2003

  CGD

• cobalamin deficiency type C
  14 March 2011

  cobalamin C disease; cobalamin deficiency type cblC with homocystinuria (MMACHC)

• 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 (...)

• Wilson disease
  30 May 2003

  Wilson’s disease

• amyotrophic lateral sclerosis
  23 September 2003

  ALS

• pentalogy of Cantrell
  19 December 2005

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

• Alzheimer disease
  20 October 2003

  Alzheimer’s disease

• Niemann-Pick disease type B
  15 August 2012

  NPDB; acid sphingomyelinase deficiency
  Definition: NPD type B is a rare inborn error of metabolism of autosomal recessive inheritance. Patients with Niemann-Pick disease type B (NPDB) have a benign course and prognosis. It is mainly a visceral form without neurologic manifestations despite the massive visceral involvement. NPDB is caused by mutations in the acid lysosomal sphingomyelin phosphodiesterase-1 gene (SMPD1) (MIM.607608)
  Digital slides
  Case 52 (HPC:52) : Liver in (...)

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