IARS gene related symptoms and diseases
All the information presented here about the IARS gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to IARS gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Joint laxity | Very Common - Between 80% and 100% cases |
| CNS hypomyelination | Very Common - Between 80% and 100% cases |
| Decreased liver function | Very Common - Between 80% and 100% cases |
| Cholestasis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with IARS gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Round face
- Full cheeks
- Hepatic steatosis
- Hepatic failure
- Abnormality of the liver
- Postnatal growth retardation
- Hydronephrosis
- Seizures
And 11 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to IARS gene
Here you will find a list of rare diseases related to the IARS. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY; GRIDHH
Description
GRIDHH is an autosomal recessive multisystem disorder characterized by intellectual disability, poor overall growth, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present (summary by Kopajtich et al., 2016).
Most common symptoms of GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY; GRIDHH
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
More info about GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY; GRIDHH
SOURCES: OMIM
Search interest in IARS
Potential gene panels for IARS gene
IARS Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the IARS gene.
More info about this panel United States.
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