KEGG   DISEASE: Dent disease
Entry
H00694                      Disease                                
Name
Dent disease
  Supergrp
X-linked hypercalciuric nephrolithiasis [DS:H02149]
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 in ICD-11 classification [BR:br08403]
 16 Diseases of the genitourinary system
  Diseases of the urinary system
   GB90  Certain specified disorders of kidney or ureter
    H00694  Dent disease
Pathway
hsa00562  Inositol phosphate metabolism
hsa04070  Phosphatidylinositol signaling system
Gene
(DENT1) CLCN5 [HSA:1184] [KO:K05012]
(DENT2) OCRL [HSA:4952] [KO:K01099]
Other DBs
ICD-11: GB90.4Y
ICD-10: N25.8
MeSH: D057973
OMIM: 300009 300555
Reference
PMID:20946626
  Authors
Devuyst O, Thakker RV
  Title
Dent's disease.
  Journal
Orphanet J Rare Dis 5:28 (2010)
DOI:10.1186/1750-1172-5-28
Reference
PMID:15086899 (DENT1)
  Authors
Hoopes RR Jr, Raja KM, Koich A, Hueber P, Reid R, Knohl SJ, Scheinman SJ
  Title
Evidence for genetic heterogeneity in Dent's disease.
  Journal
Kidney Int 65:1615-20 (2004)
DOI:10.1111/j.1523-1755.2004.00571.x
Reference
PMID:15627218 (DENT2)
  Authors
Hoopes RR Jr, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, Simckes A, Tasic V, Toenshoff B, Suchy SF, Nussbaum RL, Scheinman SJ
  Title
Dent Disease with mutations in OCRL1.
  Journal
Am J Hum Genet 76:260-7 (2005)
DOI:10.1086/427887
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