KEGG DISEASE: Bartter syndrome

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) [DS:H03106] is characterized by hypocalcemic hypercalciuria with parathyroid hormone suppression.

Category

Endocrine and metabolic 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
    H00239  Bartter syndrome

Pathway

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:

MeSH:

OMIM:

601678 241200 607364 602522 613090 300971

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

LinkDB

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