ALDH16A1 gene related symptoms and diseases
All the information presented here about the ALDH16A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ALDH16A1 gene
Symptoms // Phenotype | % Cases |
---|---|
Fever | Very Common - Between 80% and 100% cases |
Renal insufficiency | Very Common - Between 80% and 100% cases |
Arthritis | Very Common - Between 80% and 100% cases |
Nephropathy | Very Common - Between 80% and 100% cases |
Nephrolithiasis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ALDH16A1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hyperuricemia
- Acute kidney injury
- Gout
- Hyperuricosuria
- Excessive purine production
- Podagra
Rare diseases associated to ALDH16A1 gene
Here you will find a list of rare diseases related to the ALDH16A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE PARTIAL DEFICIENCY
Alternate names
HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE PARTIAL DEFICIENCY Is also known as hprt deficiency, grade i, hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial, hypoxanthine guanine phosphoribosyltransferase deficiency, grade i, hprt-related hyperuricemia, hprt1 partial deficiency, gout, hprt-related, hprt1 deficiency, parti
Description
Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.
Most common symptoms of HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE PARTIAL DEFICIENCY
- Fever
- Renal insufficiency
- Arthritis
- Nephropathy
- Nephrolithiasis
More info about HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE PARTIAL DEFICIENCY
Search interest in ALDH16A1
Potential gene panels for ALDH16A1 gene
ALDH16A1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ALDH16A1 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PEX1 ATM ACAT2 HSD11B1 TECPR2 ARMC9 NF1