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.


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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.


Alternate names

ARGININEMIA Is also known as arg1 deficiency, arginase deficiency, hyperargininemia


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


Potential gene panels for ARNTL gene


United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ARNTL gene.

More info about this panel

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