AGXT2 gene related symptoms and diseases
All the information presented here about the AGXT2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to AGXT2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Aminoaciduria | Very Common - Between 80% and 100% cases |
Rare diseases associated to AGXT2 gene
Here you will find a list of rare diseases related to the AGXT2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BETA-AMINOISOBUTYRIC ACIDURIA; BAIBA
Alternate names
BETA-AMINOISOBUTYRIC ACIDURIA; BAIBA Is also known as hyper-beta-aminoisobutyric aciduria, beta-aminoisobutyric acid, urinary excretion of, baib urinary excretion
Description
Beta-aminoisobutyric acid (BAIB) is a product of pyrimidine catabolism. Excretion of BAIB in urine is a benign 'metabolic polymorphism' present in many human populations (Scriver and Perry, 1989).
Most common symptoms of BETA-AMINOISOBUTYRIC ACIDURIA; BAIBA
- Aminoaciduria
More info about BETA-AMINOISOBUTYRIC ACIDURIA; BAIBA
Search interest in AGXT2
Potential gene panels for AGXT2 gene
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
AGXT2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the AGXT2 gene.
More info about this panel United States.
Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes Panel
Spain.
By Reference Laboratory Genetics Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 AGXT2 NPC2 CAT DNAJC5
More info about this panel Spain.
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