Have questions? Visit https://www.reddit.com/r/SNPedia

Bartter syndrome

From SNPedia

At a minimum, these SNPs are known to be related, and others may also be

 Max Magnitude
rs591727781
rs7653477510
rs8632249200
rs8759898520
rs8788544040
rs8788544050
rs8788544060
rs8788544070
rs8860398700
rs8860398840

Bartter syndrome is a rare inherited kidney disorder in the thick ascending limb of the loop of Henle. It is characterized by low potassium levels (hypokalemia), increased blood pH (alkalosis), and normal to low blood pressure. There are two types of Bartter syndrome: neonatal and classic. A closely associated disorder, Gitelman syndrome, is milder than both subtypes of Bartter syndrome.Wikipedia

Bartter and Gitelman syndromes can be divided into different subtypes based on the genes involved 10.1159/000076752:

Name Bartter type Associated gene mutations Defect
neonatal Bartter's syndrome type 1 SLC12A2 (NKCC2) Na-K-2Cl symporter
neonatal Bartter's syndrome type 2 ROMK/KCNJ1 thick ascending limb K+ channel
classic Bartter's syndrome type 3 CLCNKB Cl channel
Bartter's syndrome with sensorineural deafness type 4 BSND[PMID 16583241] Cl channel accessory subunit
Bartter's syndrome associated with autosomal dominant hypocalcemia type 5 CASR]][PMID 17048213] activating mutation of the [[calcium-sensing receptor
Gitelman's syndrome - SLC12A3 (NCCT) Sodium-chloride symporter