Orphanet: Hypohidrosis electrolyte imbalance lacrimal gland dysfunction ichthyosis xerostomia syndrome

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Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome

Disease definition

A rare genetic disease characterized by abnormalities in renal ion transport, ectodermal gland homeostasis, and epidermal integrity, resulting in generalized hypohidrosis, heat intolerance, salt-losing nephropathy, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. Development of nephrolithiasis and severe enamel wear have also been described. Laboratory findings include hypermagnesemia, hypokalemia, hypercalcemia, and hypocalciuria.


Classification level: Disorder
  • Synonym(s):
    • HELIX syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Adolescent, Adult
  • ICD-10: N25.8
  • OMIM: 617671
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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