| Disease ID | Source | Name | Description |
| 300971 | OMIM | Bartter syndrome 5, antenatal, transient (BARTS5) | An X-linked recessive form of Bartter syndrome, a disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS5 is an antenatal form beginning in utero with marked fetal polyuria that leads to polyhydramnios and premature delivery. It is characterized by severe but transient symptoms that can resolve with age. The disease is caused by variants affecting the gene represented in this entry. |