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
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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

SOURCES: MESH OMIM ORPHANET


Potential gene panels for ALDH16A1 gene

ALDH16A1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ALDH16A1 gene.

More info about this panel


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