KEGG   DISEASE: X-linked recessive nephrolithiasis with renal failure
Entry
H02147                      Disease                                
Name
X-linked recessive nephrolithiasis with renal failure
  Supergrp
X-linked hypercalciuric nephrolithiasis [DS:H02149]
Description
X-linked recessive nephrolithiasis with renal failure (XRN) is a form of X-linked hypercalciuric nephrolithiasis. It is characterized by recurrent nephrolithiasis, nephrocalcinosis, and progressive renal failure, associated with mutations in a renal chloride channel gene, CLCN5.
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
    H02147  X-linked recessive nephrolithiasis with renal failure
Gene
CLCN5 [HSA:1184] [KO:K05012]
Other DBs
ICD-11: GB90.4Y
MeSH: C562901
OMIM: 310468
Reference
PMID:9452994
  Authors
Scheinman SJ
  Title
X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations.
  Journal
Kidney Int 53:3-17 (1998)
DOI:10.1046/j.1523-1755.1998.00718.x
Reference
PMID:9602200
  Authors
Schurman SJ, Norden AG, Scheinman SJ
  Title
X-linked recessive nephrolithiasis: presentation and diagnosis in children.
  Journal
J Pediatr 132:859-62 (1998)
DOI:10.1016/S0022-3476(98)70318-X
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