KEGG   DISEASE: Bartter syndrome
Entry
H00239                      Disease                                
Name
Bartter syndrome
  Subgroup
Autosomal dominant hypocalcemia with Bartter syndrome (HYPOC1)
Description
Bartter syndrome is a heterogeneous rare disease unified by autosomal recessive transmission. Bartter syndrome is characterized by impaired salt reabsorption in the thick ascending loop of Henle with elevated aldosterone excretion resulting in salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Type 1 and 2 are the neonatal type but genetically, clinically, and biochemically different. Type 4A shows Bartter syndrome with sensorineural deafness. Type 3 is classic Bartter syndrome. Autosomal dominant hypocalcemia with Bartter syndrome (HYPOC1) is characterized by hypocalcemic hypercalciuria with parathyroid hormone suppression.
Category
Endocrine and metabolic disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Other endocrine and metabolic diseases
   H00239  Bartter syndrome
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
    H00239  Bartter syndrome
Related
pathway
hsa04960  Aldosterone-regulated sodium reabsorption
Gene
(BARTS1) SLC12A1 [HSA:6557] [KO:K14425]
(BARTS2) KCNJ1 [HSA:3758] [KO:K04995]
(BARTS3) CLCNKB [HSA:1188] [KO:K05018]
(BARTS4A) BSND [HSA:7809] [KO:K19331]
(BARTS4B) CLCNKA,CLCNKB (double mutation) [HSA:1187 1188] [KO:K05017 K05018]
(BARTS5) MAGED2 [HSA:10916] [KO:K24127]
(HYPOC1) CASR [HSA:846] [KO:K04612]
Other DBs
ICD-11: GB90.43
ICD-10: E26.8
MeSH: D001477
OMIM: 601678 241200 607364 602522 613090 300971 601198
Reference
  Authors
Kleta R, Bockenhauer D
  Title
Bartter syndromes and other salt-losing tubulopathies.
  Journal
Nephron Physiol 104:p73-80 (2006)
DOI:10.1159/000094001
Reference
  Authors
Hebert SC
  Title
Bartter syndrome.
  Journal
Curr Opin Nephrol Hypertens 12:527-32 (2003)
DOI:10.1097/01.mnh.0000088732.87142.43
Reference
PMID:15056980 (SLC12A1, KCNJ1, CLCNKB, BSND)
  Authors
Naesens M, Steels P, Verberckmoes R, Vanrenterghem Y, Kuypers D
  Title
Bartter's and Gitelman's syndromes: from gene to clinic.
  Journal
Nephron Physiol 96:p65-78 (2004)
DOI:10.1159/000076752
Reference
PMID:15044642 (CLCNKA, CLCNKB)
  Authors
Schlingmann KP, Konrad M, Jeck N, Waldegger P, Reinalter SC, Holder M, Seyberth HW, Waldegger S
  Title
Salt wasting and deafness resulting from mutations in two chloride channels.
  Journal
N Engl J Med 350:1314-9 (2004)
DOI:10.1056/NEJMoa032843
Reference
PMID:27120771 (MAGED2)
  Authors
Laghmani K, Beck BB, Yang SS, Seaayfan E, Wenzel A, Reusch B, Vitzthum H, Priem D, Demaretz S, Bergmann K, Duin LK, Gobel H, Mache C, Thiele H, Bartram MP, Dombret C, Altmuller J, Nurnberg P, Benzing T, Levtchenko E, Seyberth HW, Klaus G, Yigit G, Lin SH, Timmer A, de Koning TJ, Scherjon SA, Schlingmann KP, Bertrand MJ, Rinschen MM, de Backer O, Konrad M, Komhoff M
  Title
Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.
  Journal
N Engl J Med 374:1853-63 (2016)
DOI:10.1056/NEJMoa1507629
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