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.

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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

SOURCES: MESH OMIM ORPHANET

AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY



More info about AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY

SOURCES: ORPHANET

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


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


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