1. Mendelian
  2. Rare Diseases
  3. HYPERCHLORHIDROSIS, ISOLATED

Hyperchlorhidrosis, Isolated; Hychl

Table of contents:

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).

Genes related to Hyperchlorhidrosis, Isolated; Hychl

  • CA12

View recommended genes panels

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.

Click here to know more about Mendelian.

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 more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R; LGMD2R MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE; LIMM LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6; FPLD6 AMYOTROPHY, HEREDITARY NEURALGIC; HNA STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET; SAVI CUSHING DISEASE LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2