X-linked recessive inheritance Three-dimensional homology model of human CLC-5 based on the structure of ClC-ec1 (7) showing the locations of each mutated residue<unk>  disease 1<unk>  is a X-linked recessive disorder. The males are prone to manifesting symptoms in early adulthood with symptoms of calculi, rickets or even with kidney failure in more severe cases. In humans, gene CLCN5 is located on chromosome Xp11.22, and has a 2238-bp coding sequence that consists of 11 exons that span 25 to 30 kb of genomic DNA and encode a 746-amino-acid protein. CLCN5 belongs to the family of voltage-gated chloride channel genes (CLCN1-CLCN7, CLCKa and CLCKb) that have about 12 transmembrane domains. These chloride channels have an important role in the control of membrane excitability, transepithelial transport, and possibly cell volume. The mechanisms by which CLC-5 dysfunction results in hypercalciuria and the other features of<unk>  remain to be elucidated. The identification of additional CLCN5 mutations may help in these studies.<unk>  disease 2<unk>  disease 2 (nephrolithiasis type 2) is associated with the OCRL gene. Both Lowe syndrome (oculocerebrorenal syndrome) and<unk>  disease can be caused by truncating or missense mutations in OCRL.
Dent's disease
Darier's disease
Minor's disease
Freiberg disease
Bright's disease
Blount's disease
Chandler's disease
Haff disease