Rare Diseases Symptoms Automatic Extraction

Cohen syndrome with high urinary excretion of hyaluronic acid.

[cohen syndrome]

Cohen syndrome (MIM 216550) is an autosomal recessive disorder of unknown pathogenesis. The clinical manifestations of Cohen syndrome can be explained as a connective tissue disorder. We found a remarkably high level of urinary hyaluronic acid in 3 patients with Cohen syndrome. Hyperhyaluronic aciduria is a characteristic finding in Werner syndrome and some other conditions. We suggest that the basic defect of Cohen syndrome is associated with a metabolic abnormality in the extracellular matrix.

Diseases presenting "aciduria" symptom

  • adrenomyeloneuropathy
  • alexander disease
  • canavan disease
  • child syndrome
  • classical phenylketonuria
  • cohen syndrome
  • cystinuria
  • homocystinuria without methylmalonic aciduria
  • neonatal adrenoleukodystrophy
  • phenylketonuria
  • primary hyperoxaluria type 1
  • pyruvate dehydrogenase deficiency
  • x-linked adrenoleukodystrophy

This symptom has already been validated