Hyperchlorhidrosis, Isolated; Hychl
Description
Isolated hyperchlorhidrosis is an autosomal recessive condition in which excessive salt wasting in sweat can result in severe infantile hyponatremic dehydration and hyperkalemia (summary by Muhammad et al., 2011).
Clinical Features
Top most frequent phenotypes and symptoms related to Hyperchlorhidrosis, Isolated; Hychl
- Failure to thrive
- Feeding difficulties
- Dilatation
- Abnormality of metabolism/homeostasis
- Hyperkeratosis
- Scarring
- Cough
- Infertility
- Dehydration
- Bronchiectasis
And another 6 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Hyperchlorhidrosis, Isolated; Hychl Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Cystic Fibrosis and CF-Related Disorders NGS Panel.
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).
SCNN1A, SCNN1B, SCNN1G, CA12, CFTR
Specificity
20 %
Genes
100 % |
Cystic Fibrosis Related Disorders NGS Panel.
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).
SCNN1A, SCNN1B, SCNN1G, CA12
Specificity
25 %
Genes
100 % |
CA12.
By Fulgent Genetics Fulgent Genetics (United States).
CA12
Specificity
100 %
Genes
100 % |
You can get up to -5 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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