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

• Wilson disease
  30 May 2003

  Wilson’s disease

• chronic granulomatous disease
  3 October 2003

  CGD

• 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 (...)

• hereditary mixed polyposis syndrome
  26 September 2003

  HMPS, CRAC1,
  The hereditary mixed polyposis syndrome (HMPS) is characterized by atypical juvenile polyps ( MIM.174900 ), colonic adenomas, and colorectal carcinomas. Many polyps are mixed in pattern.
  The term ‘mixed’ relates both to the variety of polyps observed in this condition and the presence of polyps with features reminiscent of more than one of the classic types of colorectal polyp.
  Synopsis
  Hereditary syndrome characterized by the appearance of various types of polyps, many of (...)

• Meckel syndrome
  18 March 2004

  Meckel-Gruber syndrome, dysencephalia splanchnocystica

• pentalogy of Cantrell
  19 December 2005

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

• xeroderma pigmentosum
  6 March 2004

  XP

• cobalamin deficiency type C
  14 March 2011

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

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