Rare Diseases Symptoms Automatic Extraction

The adhesion molecule anosmin-1 in neurology: Kallmann syndrome and beyond.

[kallmann syndrome]

Anosmin-1 is the glycoprotein encoded by the KAL1 gene and part of the extracellular matrix, which was first identified as defective in human Kallmann syndrome (KS, characterised by hypogonadotropic hypogonadism and anosmia); biochemically it is a cell adhesion protein. The meticulous biochemical dissection of the anosmin-1 domains has identified which domains are necessary for the protein to bind its different partners to display its biological effects. Research in the last decade has unravelled different roles of anosmin-1 during CNS development (axon pathfinding, axonal collateralisation, cell motility and migration), some of them intimately related with the cited KS but not only with this. More recently, anosmin-1 has been identified in other pathological scenarios both within (multiple sclerosis) and outside (cancer, atopic dermatitis) the CNS.

Diseases presenting "multiple sclerosis" symptom

  • adrenomyeloneuropathy
  • alexander disease
  • cadasil
  • familial mediterranean fever
  • inclusion body myositis
  • kallmann syndrome
  • locked-in syndrome
  • pyruvate dehydrogenase deficiency
  • sneddon syndrome
  • thoracic outlet syndrome
  • wiskott-aldrich syndrome
  • x-linked adrenoleukodystrophy

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