Rare Diseases Symptoms Automatic Extraction

Evidence of true genotype-phenotype correlation in primary hyperoxaluria type 1.

[primary hyperoxaluria type 1]

A genotype-phenotype correlation in patients with primary hyperoxaluria type 1 and specific AGXT mutations has supposedly been found, at least for sensitivity to medication and long-term outcome. Nevertheless, other determinants, such as environmental factors or modifier genes, must play an essential role in the intra- and interfamilial heterogeneity of this disease. Harambat and co-workers report on this situation, presenting data on a major population of genotyped patients.

Diseases presenting "long-term outcome" symptom

  • aniridia
  • cholangiocarcinoma
  • classical phenylketonuria
  • cystinuria
  • erythropoietic protoporphyria
  • esophageal squamous cell carcinoma
  • fabry disease
  • hirschsprung disease
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • inclusion body myositis
  • kabuki syndrome
  • krabbe disease
  • oligodontia
  • papillon-lefèvre syndrome
  • primary hyperoxaluria type 1
  • trochlear dysplasia
  • von hippel-lindau disease
  • waldenström macroglobulinemia

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