Monogenic disease

Articles

• amyotrophic lateral sclerosis
  23 September 2003

  ALS

• cobalamin deficiency type C
  14 March 2011

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

• hereditary hemorrhagic telangiectasia
  3 October 2003

  HHT, Osler-Weber-Rendu disease, Rendu-Osler 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

• 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 (...)

• juvenile nephronophthisis
  27 October 2003

  Nephronophthisis comprises a group of autosomal recessive cystic kidney diseases, which constitute the most frequent genetic cause for end-stage renal failure in children and young adults.
  Synopsis
  medullary cystic disease renal medullary cysts renal corticomedullary cysts renal interstitial fibrosis renal tubular atrophy relatively spared glomeruli
  nephronophthisis-associated hepatic disease nephronophthisis-associated congenital hepatic fibrosis hepatic fibrosis
  Variants (...)

• tufting enteropathy
  14 December 2006

  intestinal epithelial dysplasia; DIAR5; congenital tufting enteropathy; intestinal epitelial cell dysplasia
  Definition: Intestinal epithelial dysplasia, or tufting enteropathy, is a clinicopathologic entity associated with refractory diarrhea in infants. This rare congenital enteropathy is present in the first few months of life with chronic watery diarrhoea and impaired growth. The molecular basis for this condition is not known.
  Congenital tufting enteropathy (CTE) can be caused by (...)

• 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 (...)

• Pfeiffer syndrome
  1 December 2004

  acrocephalosyndactyly, Noack syndrome, craniofacial-skeletal- dermatologic dysplasia

• neurofibromatosis type 1
  28 October 2003

  NF1, Von Recklinghausen’s disease, Von Recklinghausen neurofibromatosis

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