[DEL] URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1

General Information (adopted from Orphanet):

Synonyms, Signs: GOUT SUSCEPTIBILITY 1
UAQTL1
GOUT1
Number of Symptoms 0
OrphanetNr:
OMIM Id: 138900
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT

Symptom Information: Sort by abundance 

Associated genes:

ABCG2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Gout is a common disorder resulting from tissue deposition of monosodium urate crystals as a consequence of hyperuricemia. Patients with gout experience very painful attacks caused by precipitation of urate in joints, which triggers subsequent inflammation. Elevated serum uric ...
Molecular genetics OMIM Among 90 Japanese patients with increased serum uric acid levels, Matsuo et al. (2009) identified 6 nonsynonymous changes in the ABCG2 gene. Two polymorphic variants occurred at high frequencies and were studied in more detail: Q126X (603756.0002) and Q141K ...