1. Mendelian
  2. Rare Disease Genes
  3. IARS2

IARS2 gene related symptoms and diseases

All the information presented here about the IARS2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to IARS2 gene

Symptoms // Phenotype % Cases
Short stature Very Common - Between 80% and 100% cases
Spondyloepiphyseal dysplasia Very Common - Between 80% and 100% cases
Sensory neuropathy Very Common - Between 80% and 100% cases
Sensory impairment Very Common - Between 80% and 100% cases
Growth hormone deficiency Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with IARS2 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Hip dysplasia
  • Bilateral sensorineural hearing impairment
  • Sensorimotor neuropathy
  • Congenital hip dislocation
  • Progressive sensorineural hearing impairment
  • Thick eyebrow
  • Spinal canal stenosis
  • Achalasia

And 26 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to IARS2 gene

Here you will find a list of rare diseases related to the IARS2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CATARACT-GROWTH HORMONE DEFICIENCY-SENSORY NEUROPATHY-SENSORINEURAL HEARING LOSS-SKELETAL DYSPLASIA SYNDROME

Alternate names

CATARACT-GROWTH HORMONE DEFICIENCY-SENSORY NEUROPATHY-SENSORINEURAL HEARING LOSS-SKELETAL DYSPLASIA SYNDROME Is also known as cagsss

Most common symptoms of CATARACT-GROWTH HORMONE DEFICIENCY-SENSORY NEUROPATHY-SENSORINEURAL HEARING LOSS-SKELETAL DYSPLASIA SYNDROME

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Sensorineural hearing impairment


More info about CATARACT-GROWTH HORMONE DEFICIENCY-SENSORY NEUROPATHY-SENSORINEURAL HEARING LOSS-SKELETAL DYSPLASIA SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for IARS2 gene

Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L SCO2 SUCLA2 SUCLG1 SURF1 TSFM FBXL4 GFM1 GTPBP3 LRPPRC

More info about this panel
United States.

Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L MRPL12 MRPL3 SCO1 SCO2 SDHB SDHD SLC25A1 SLC25A3 SLC25A4

More info about this panel
United States.

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel
Germany.

IARS2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the IARS2 gene.

More info about this panel
United States.

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