KEGG   DISEASE: H00694Help
Entry
H00694                      Disease                                

Name
Dent disease, including:
Dent disease 1;
Dent disease 2;
X-linked recessive nephrolithiasis ;
Hypophosphatemic rickets;
Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis
Description
Dent disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. The disease is caused by mutations in either the CLCN5 or OCRL1 genes. CLCN5 encodes a member of the ClC family of chloride ion channels and ion transporters. OCRL1 encodes a phosphatidylinositol bisphosphate (PIP2) 5-phosphatase and mutations are also associated with Lowe Syndrome.
Category
Urinary system disease
Brite
Human diseases [BR:br08402]
 Urinary system diseases
  Kidney diseases
   H00694  Dent disease
Human diseases in ICD-10 classification [BR:br08403]
 14. Diseases of the genitourinary system (N00-N99)
  N30-N39  Other diseases of urinary system
   N39  Other disorders of urinary system
    H00694  Dent disease
BRITE hierarchy
Pathway
Inositol phosphate metabolism
Phosphatidylinositol signaling system
Gene
CLCN5 [HSA:1184] [KO:K05012]
OCRL1 [HSA:4952] [KO:K01099]
Comment
Mutations in OCRL1 gene also cause Lowe syndrome [DS:H00692].
Other DBs
Reference
  Authors
Devuyst O, Thakker RV
  Title
Dent's disease.
  Journal
Orphanet J Rare Dis 5:28 (2010)

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