[DEL] Uric acid concentration, serum, quantitative trait locus 4
General Information (adopted from Orphanet):
| Synonyms, Signs: |
UAQTL4 GOUT4 Gout susceptibility 4 |
| Number of Symptoms | 0 |
| OrphanetNr: | |
| OMIM Id: |
612671
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
AARSKOG SYNDROME, AUTOSOMAL DOMINANT
-AARSKOG SYNDROME, AUTOSOMAL DOMINANT |
Symptom Information:
Associated genes:
| SLC17A3; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Molecular genetics OMIM |
In 2 unrelated Japanese men in their sixties with hyperuricemia and gout, respectively, Jutabha et al. (2010) identified 2 different heterozygous missense mutations in the SLC17A3 gene (611034.0001 and 611034.0002). Each mutation caused reduced urate efflux compared to wildtype ... |