IllnessHypourikaemia, renal; differential diagnosis
Summary
Short information
2 curated single gene sequence analyses for the differential diagnosis according to the clinical suspicion Hypourikemia, renal
ID
HP1040
Number of genes
2
Accredited laboratory test
Examined sequence length
3,1 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Informations about the disease
Clinical Comment
Renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia, predisposing to urolithiasis, exercise induced acute renal failure
Synonyms
- Nephrolithiasis + exercise-induced acute renal failure in ~10%
- Alias: Hereditary renal hypouricemia
- Allelic: Cystinosis, ocular nonnephropathic (CTNS)
- Cystinosis, atypical nephropathic (CTNS)
- Cystinosis, late-onset juvenile or adolescent nephropathic (CTNS)
- Cystinosis, nephropathic (CTNS)
- Hypouricemia, renal (SLC22A12)
- Hypouricemia, renal, 2 (SLC2A9)
- Uric acid concentration, serum, QTL 2 (SLC2A9)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
E79.9
Bioinformatics and clinical interpretation
No text defined