Hyperchlorhidrosis, Isolated (HYCHL)

Alias:
Isolated Hyperchlorhidrosis
Carbonic Anhydrase Xii Deficiency
Hychl
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hyperchlorhidrosis, Isolated, also known as isolated hyperchlorhidrosis, is related to pseudohypoaldosteronism and bronchiectasis with or without elevated sweat chloride 1. An important gene associated with Hyperchlorhidrosis, Isolated is CA12 (Carbonic Anhydrase 12), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and G-Beta Gamma Signaling. Affiliated tissues include skin, and related phenotypes are failure to thrive and elevated sweat chloride
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
7
65
3

Medical Symptom

#
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

Name
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
Year
IF
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