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.
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
Search interest in CA12
Potential gene panels for CA12 gene
Cystic Fibrosis and CF-Related Disorders NGS Panel Panel
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 panelCystic Fibrosis Related Disorders NGS Panel Panel
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 panelCA12 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CA12 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ANK1 SIX1 BGN CXorf36 SLC39A14 SLC25A13 SCN3A