Bartter syndrome
From SNPedia
At a minimum, these SNPs are known to be related, and others may also be
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 |
