CDC42BPA gene related symptoms and diseases

All the information presented here about the CDC42BPA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CDC42BPA gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Brisk reflexes Very Common - Between 80% and 100% cases
Lactic acidosis Very Common - Between 80% and 100% cases
Progressive cerebellar ataxia Very Common - Between 80% and 100% cases
Increased serum lactate Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CDC42BPA gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Gynecomastia
  • EMG abnormality
  • Exercise intolerance
  • Neurodevelopmental delay
  • Abnormal pyramidal sign
  • Axonal degeneration
  • Central hypotonia
  • Increased CSF lactate

And 24 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CDC42BPA gene

Here you will find a list of rare diseases related to the CDC42BPA. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY


Alternate names

AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY Is also known as arca2, autosomal recessive cerebellar ataxia type 2, spinocerebellar ataxia, autosomal recessive 9, scar9, autosomal recessive ataxia due to coenzyme q10 deficiency, autosomal recessive spinocerebellar ataxia type 9

Description

This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.

Most common symptoms of AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


More info about AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY

SOURCES: MESH OMIM ORPHANET


Potential gene panels for CDC42BPA gene

CDC42BPA Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CDC42BPA gene.

More info about this panel


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