TAT-AS1 gene related symptoms and diseases

All the information presented here about the TAT-AS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TAT-AS1 gene

Symptoms // Phenotype	% Cases
Intellectual disability	Very Common - Between 80% and 100% cases
Neurological speech impairment	Very Common - Between 80% and 100% cases
4-Hydroxyphenylpyruvic aciduria	Very Common - Between 80% and 100% cases
Abnormality of amino acid metabolism	Very Common - Between 80% and 100% cases
Hypertyrosinemia	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with TAT-AS1 gene alterations may also develop some of the following symptoms and phenotypes:

• Commonly - More than 50% cases

• Ocular pain
• Male infertility
• Epiphora
• Keratitis
• Palmoplantar hyperkeratosis
• Abnormality of the nail
• Abnormality of the skin
• Hypoplasia of the maxilla

And 20 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TAT-AS1 gene

Here you will find a list of rare diseases related to the TAT-AS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

Search interest in TAT-AS1

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