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

SOURCES: MESH OMIM


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

AGXT2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AGXT2 gene.

More info about this panel

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


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