CA12 gene related symptoms and diseases

All the information presented here about the CA12 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CA12 gene

Symptoms // Phenotype % Cases
Failure to thrive Very Common - Between 80% and 100% cases
Feeding difficulties Very Common - Between 80% and 100% cases
Dilatation Very Common - Between 80% and 100% cases
Abnormality of metabolism/homeostasis Very Common - Between 80% and 100% cases
Hyperkeratosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CA12 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Scarring
  • Cough
  • Infertility
  • Dehydration
  • Bronchiectasis
  • Hyponatremia
  • Hyperkalemia
  • Hyperaldosteronism

And 3 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CA12 gene

Here you will find a list of rare diseases related to the CA12. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


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).

Most common symptoms of HYPERCHLORHIDROSIS, ISOLATED; HYCHL

  • Failure to thrive
  • Feeding difficulties
  • Dilatation
  • Abnormality of metabolism/homeostasis
  • Hyperkeratosis


More info about HYPERCHLORHIDROSIS, ISOLATED; HYCHL

SOURCES: OMIM


Potential gene panels for CA12 gene

Cystic Fibrosis and CF-Related Disorders NGS Panel Panel

United States.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Cystic Fibrosis and CF-Related Disorders NGS Panel that also includes the following genes: SCNN1A SCNN1B SCNN1G CA12 CFTR

More info about this panel

Cystic Fibrosis Related Disorders NGS Panel Panel

United States.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Cystic Fibrosis Related Disorders NGS Panel that also includes the following genes: SCNN1A SCNN1B SCNN1G CA12

More info about this panel

CA12 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CA12 gene.

More info about this panel


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