CALCA gene related symptoms and diseases
All the information presented here about the CALCA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CALCA gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Hydroureter | Very Common - Between 80% and 100% cases |
| Congenital hypothyroidism | Very Common - Between 80% and 100% cases |
| Impaired pain sensation | Very Common - Between 80% and 100% cases |
| Abnormality of immune system physiology | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CALCA gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abnormality of blood and blood-forming tissues
- Prematurely aged appearance
- Transposition of the great arteries
- Broad palm
- Atrioventricular canal defect
- Decreased fertility
- Alzheimer disease
- Polycythemia
And 89 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CALCA gene
Here you will find a list of rare diseases related to the CALCA. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DOWN SYNDROME
Alternate names
DOWN SYNDROME Is also known as trisomy 21
Description
Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.
Most common symptoms of DOWN SYNDROME
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hearing impairment
More info about DOWN SYNDROME
Search interest in CALCA
Potential gene panels for CALCA gene
CALCA Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CALCA gene.
More info about this panel United States.
Study of Molecular Markers Of Essential Hypertension and Associated Cardiovascular Events (37 genes - 57 genetic variants) Panel
Portugal.
By HeartGenetics, Genetics and Biotechnology, SA Study of Molecular Markers Of Essential Hypertension and Associated Cardiovascular Events (37 genes - 57 genetic variants) that also includes the following genes: SCNN1A SCNN1B SLC12A3 CALCA WNK1 STK39 CLCNKA CLCNKB ADD1 ADRA1A
More info about this panel Portugal.
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