ATG5 gene related symptoms and diseases

All the information presented here about the ATG5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ATG5 gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Ataxia Very Common - Between 80% and 100% cases
Nystagmus Very Common - Between 80% and 100% cases
Cognitive impairment Very Common - Between 80% and 100% cases
Cerebellar hypoplasia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ATG5 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Dysmetria
  • Truncal ataxia
  • Delayed ability to walk
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Rare diseases associated to ATG5 gene

Here you will find a list of rare diseases related to the ATG5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25; SCAR25


Most common symptoms of SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25; SCAR25

  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Cerebellar hypoplasia


More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25; SCAR25

SOURCES: OMIM


Potential gene panels for ATG5 gene

ATG5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ATG5 gene.

More info about this panel


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