ARNTL gene related symptoms and diseases
All the information presented here about the ARNTL 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 ARNTL gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Athetosis | Very Common - Between 80% and 100% cases |
| Coma | Very Common - Between 80% and 100% cases |
| Tetraplegia | Very Common - Between 80% and 100% cases |
| Spastic tetraplegia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ARNTL gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Anorexia
- Muscle stiffness
- Paraparesis
- Aminoaciduria
- Spastic paraparesis
- Cerebral palsy
- Tachypnea
- Hyperammonemia
And 45 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ARNTL gene
Here you will find a list of rare diseases related to the ARNTL. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ARGININEMIA
Alternate names
ARGININEMIA Is also known as arg1 deficiency, arginase deficiency, hyperargininemia
Description
Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.
Most common symptoms of ARGININEMIA
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about ARGININEMIA
Search interest in ARNTL
Potential gene panels for ARNTL gene
ARNTL Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ARNTL gene.
More info about this panel United States.
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