Genetic disorders and urolithiasis.
A recent analysis of the McKusick's On-Line Mendelian Inheritance in Man (OMIM) database revealed over 30 genetic or putatively genetic conditions in which urolithiasis contributes to the disease pathology at least to some extent. There is wide clinical, biochemical, and genetic heterogeneity in many of these conditions.
Danpure
C J
CJ
MRC Laboratory for Molecular Cell Biology, University College London, United Kingdom. c.danpure@ucl.ac.uk
D002129:Calcium Oxalate / Q000032:analysis; D002130:Calcium Phosphates / Q000032:analysis; D003553:Cystine / Q000032:analysis; D005838:Genotype; D006801:Humans; D009154:Mutation; D010641:Phenotype; D011687:Purines / Q000032:analysis; D014545:Urinary Calculi / Q000737:chemistry / Q000235:genetics* / Q000628:therapy
D002130:Calcium Phosphates; D011687:Purines; C485828:alpha-tricalcium phosphate; C485830:tetracalcium phosphate; D002129:Calcium Oxalate; D003553:Cystine; C485838:calcium phosphate, monobasic, anhydrous; C020243:calcium phosphate; C485829:calcium phosphate, dibasic, anhydrous; C030985:purine