Helix Syndrome (HELIX)

Alias:
Hypohidrosis, Electrolyte Imbalance, Lacrimal Gland Dysfunction, Ichthyosis, and Xerostomia
Helix
Hypohidrosis-Electrolyte Imbalance-Lacrimal Gland Dysfunction-Ichthyosis-Xerostomia Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Helix Syndrome, also known as hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia, is related to t-cell immunodeficiency, congenital alopecia, and nail dystrophy and question mark ears, isolated. An important gene associated with Helix Syndrome is CLDN10 (Claudin 10). Affiliated tissues include eye and kidney, and related phenotypes are hyperparathyroidism and alacrima
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
1
3
2

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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