1. Mendelian
  2. Rare Disease Genes
  3. ARV1

ARV1 gene related symptoms and diseases

All the information presented here about the ARV1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to ARV1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Hypertonia Very Common - Between 80% and 100% cases
Epileptic encephalopathy Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Encephalopathy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ARV1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Status epilepticus
  • Dystonia
  • Ataxia
  • Generalized hypotonia
  • Global developmental delay

  • Not very common - Between 30% and 50% cases

  • Retinal dystrophy
  • Intellectual disability, profound
  • Visual impairment

And 15 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ARV1 gene

Here you will find a list of rare diseases related to the ARV1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

Alternate names

UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY Is also known as undetermined eoee

Most common symptoms of UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

SOURCES: OMIM ORPHANET

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38; EIEE38

Most common symptoms of EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38; EIEE38

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38; EIEE38

SOURCES: OMIM


Potential gene panels for ARV1 gene

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel
United States.

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE

More info about this panel
United States.

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