HELIX syndrome

Term ID

DOID:0070746

Synonyms

• hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia

Definition

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. https://pubmed.ncbi.nlm.nih.gov/28771254/

References

• GARD:0017967
• ICD10CM:N25.8
• MIM:617671
• ORDO:528105
• SNOMEDCT_US_2026_03_01:1217380005
• UMLS_CUI:C4522164

Ontology

Human Disease   ( DOID:0070746 )