CAMK2A gene related symptoms and diseases
All the information presented here about the CAMK2A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CAMK2A gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Common - Between 50% and 80% cases |
| EEG abnormality | Uncommon - Between 30% and 50% cases |
| Inability to walk | Uncommon - Between 30% and 50% cases |
| Spasticity | Uncommon - Between 30% and 50% cases |
| Seizures | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CAMK2A gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Generalized hypotonia
- Global developmental delay
Rarely - Less than 30% cases
- Global brain atrophy
- Oral-pharyngeal dysphagia
- Personality changes
- Abnormality of mitochondrial metabolism
- Nephrocalcinosis
- Back pain
And 115 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CAMK2A gene
Here you will find a list of rare diseases related to the CAMK2A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53; MRD53
Most common symptoms of MENTAL RETARDATION, AUTOSOMAL DOMINANT 53; MRD53
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 53; MRD53
SOURCES: OMIM
WILSON DISEASE
Alternate names
WILSON DISEASE Is also known as wd, hepatolenticular degeneration, wnd
Description
Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.
Most common symptoms of WILSON DISEASE
- Intellectual disability
- Growth delay
- Neoplasm
- Failure to thrive
- Spasticity
More info about WILSON DISEASE
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63; MRT63
Most common symptoms of MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63; MRT63
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Spasticity
More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63; MRT63
SOURCES: OMIM
Search interest in CAMK2A
Potential gene panels for CAMK2A gene
CAMK2A Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CAMK2A gene.
More info about this panel United States.
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