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  2. Genes
  3. TAT-AS1

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.

Table of contents:

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.


TYROSINEMIA TYPE 2

Alternate names

TYROSINEMIA TYPE 2 Is also known as tyrosinemia due to tyrosine aminotransferase deficiency, keratosis palmoplantaris with corneal dystrophy, tyrosinemia due to tat deficiency, tyrosine transaminase deficiency, tyrosinosis, oculocutaneous type, tyrosine aminotransferase deficiency, keratosis palm

Description

Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.

Most common symptoms of TYROSINEMIA TYPE 2

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Ataxia
  • Growth delay


More info about TYROSINEMIA TYPE 2

SOURCES: OMIM ORPHANET



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