KEGG   DISEASE: Gitelman syndrome
Entry
H00240                      Disease                                
Name
Gitelman syndrome
Description
Gitelman syndrome (GTLMNS) is an autosomal recessive renal tubular disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria and is caused by mutations in the thiazide-sensitive sodium chloride transporter.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of metabolite absorption or transport
    5C64  Disorders of mineral absorption or transport
     H00240  Gitelman syndrome
Pathway-based classification of diseases [BR:br08402]
 Endocrine system
  nt06325  Hormone/cytokine signaling
   H00240  Gitelman syndrome
Pathway
hsa04928  Parathyroid hormone synthesis, secretion and action
Network
nt06325 Hormone/cytokine signaling
Gene
SLC12A3 [HSA:6559] [KO:K14426]
Other DBs
ICD-11: 5C64.41
ICD-10: E26.8
MeSH: D053579
OMIM: 263800
Reference
PMID:18667063
  Authors
Knoers NV, Levtchenko EN
  Title
Gitelman syndrome.
  Journal
Orphanet J Rare Dis 3:22 (2008)
DOI:10.1186/1750-1172-3-22
Reference
PMID:22009145 (SLC12A3)
  Authors
Glaudemans B, Yntema HG, San-Cristobal P, Schoots J, Pfundt R, Kamsteeg EJ, Bindels RJ, Knoers NV, Hoenderop JG, Hoefsloot LH
  Title
Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.
  Journal
Eur J Hum Genet 20:263-70 (2012)
DOI:10.1038/ejhg.2011.189
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