Details of Disease | DrugMAP

General Information of Disease (ID: DIS5HCN4)

Disease Name	HELIX syndrome
Synonyms	hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia; HELIX syndrome; HELIX; hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
Disease Hierarchy	DISZ75RJ: Inherited renal tubular disease DISCPWH9: Autosomal recessive disease DIS5HCN4: HELIX syndrome
Disease Identifiers	MONDO ID MONDO_0060564 UMLS CUI C4522164 OMIM ID 617671 MedGen ID 1621482 Orphanet ID 528105 SNOMED CT ID 1217380005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CLDN10	OT2CVAKY	Strong	Autosomal recessive	[1]
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References

1	PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat Genet. 2019 Nov;51(11):1560-1565. doi: 10.1038/s41588-019-0528-2.