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Results 1 - 10 of 42 for Nephrolithiasis
  1. Kidney stones 
    Kidney stones (also called renal stones or urinary stones) are small, hard deposits that form in one or both kidneys; the stones are made up of minerals or other ...
    https://medlineplus.gov/genetics/condition/kidney-stones - Genetics
  2. Cystinuria 
    ... on PubMed Langman CB. The molecular basis of kidney stones. Curr Opin Pediatr. 2004 Apr;16(2):188- ...
    https://medlineplus.gov/genetics/condition/cystinuria - Genetics
  3. Dent disease 
    ... hypercalciuria), calcium deposits in the kidneys (nephrocalcinosis), and kidney stones (nephrolithiasis). Kidney stones can cause abdominal pain and blood ...
    https://medlineplus.gov/genetics/condition/dent-disease - Genetics
  4. Primary hyperoxaluria 
    ... and genetic cause. In primary hyperoxaluria type 1, kidney stones typically begin to appear anytime from childhood to ... primary hyperoxaluria type 3, affected individuals often develop kidney stones in early childhood, but few cases of this ...
    https://medlineplus.gov/genetics/condition/primary-hyperoxaluria - Genetics
  5. AGXT gene 
    ... AM, Lieske JC, Milliner DS, Harris PC; Rare Kidney Stone Consortium. Phenotype-Genotype Correlations and Estimated Carrier Frequencies ...
    https://medlineplus.gov/genetics/gene/agxt - Genetics
  6. GRHPR gene 
    The GRHPR gene provides instructions for making an enzyme called glyoxylate and hydroxypyruvate reductase. This enzyme plays a role in preventing the buildup ...
    https://medlineplus.gov/genetics/gene/grhpr - Genetics
  7. SLC34A1 gene 
    ... infancy or not, typically include hypercalciuria, nephrocalcinosis, and kidney stones (nephrolithiasis).The SLC34A1 gene mutations that cause infantile ...
    https://medlineplus.gov/genetics/gene/slc34a1 - Genetics
  8. CYP24A1 gene 
    ... infancy or not, typically include hypercalciuria, nephrocalcinosis, and kidney stones (nephrolithiasis), although they may not cause any obvious health ...
    https://medlineplus.gov/genetics/gene/cyp24a1 - Genetics
  9. Idiopathic infantile hypercalcemia 
    ... and hypercalciuria can lead to the formation of kidney stones (nephrolithiasis) and may damage the kidneys and impair their ... adulthood. These individuals usually develop hypercalciuria, nephrocalcinosis, and nephrolithiasis, although the features may not cause any obvious ...
    https://medlineplus.gov/.../idiopathic-infantile-hypercalcemia - Genetics
  10. CLCN5 gene 
    ... nutrients into the bloodstream can cause bone defects, kidney stones, and related health problems in people with Dent ... implicated in Dent disease (an X-linked hereditary nephrolithiasis). Genomics. 1995 Oct 10;29(3):598-606. ...
    https://medlineplus.gov/genetics/gene/clcn5 - Genetics
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