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hypophosphatemic nephrolithiasis/osteoporosis type 1
Genetics:
- associated with defects in SLC34A1 are the cause of
Pathology:
- hypophosphatemia results from idiopathic renal phosphate loss & contributes to the pathogenesis of hypophosphatemic urolithiasis as well to that of hypophosphatemic osteoporosis
Laboratory:
- serum phosphate, hypophosphatemia
General
genetic disease of bone/skeletal system
genetic disease of the kidney
Database Correlations
OMIM 612286
References
OMIM :accession 612286