Helix syndrome

Preferred Label : Helix syndrome;

Symbol : HELIX;

CISMeF acronym : HELIX;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the claudin 10 gene (CLDN10, 617579.0001);

Laboratory abnormalities : Hypocalciuria; Low urinary magnesium; Hypokalemia (in adults); Hypermagnesemia; Reduced 25-hydroxy vitamin D levels;

Prefixed ID : #617671;

Details

Origin ID

617671;

UMLS CUI

C4522164;

Automatic exact mappings (from CISMeF team)
- Helix [FMA entity]
- Helix [NCIt concept]
- Helix [NCIt concept]
- Helix (organism) [SNOMED CT concept]
- Protein Helix [NCIt concept]
- helix [IUPAC Term]
- helix [Radlex concept]
- helix of outer ear [UBERON concept]
Currated CISMeF NLP mapping
- Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) [SNOMED CT concept]
- Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome [ORDO Disease]
Genes related to phenotype
- Claudin 10 [OMIM gene]
HPO term(s)
- Alacrima [HPO term]
- Anhidrosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Dry skin [HPO term]
- Heat intolerance [HPO term]
- Hypermagnesemia [HPO term]
- Hyperparathyroidism [HPO term]
- Hypocalciuria [HPO term]
- Hypohidrosis [HPO term]
- Hypokalemia [HPO term]
- Nephrolithiasis [HPO term]
- Polydipsia [HPO term]
- Polyuria [HPO term]
- Renal insufficiency [HPO term]
- Xerostomia [HPO term]
ORDO concept(s)
- Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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