Conditions / Syndrome

HELIX syndrome

info · Syndrome · ICD-10: N25.8

A syndrome characterized by hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia that has_material_basis_in homozygous mutation in the CLDN10 gene on chromosome 13q32.

Signs and symptoms

  • Anhidrosis
  • Hypermagnesemia
  • Xerostomia
  • Hyperparathyroidism
  • Alacrima
  • Heat intolerance
  • Renal insufficiency
  • Dry skin
  • Polydipsia
  • Hypokalemia

Also known as: hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia