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Browse result for Bartter syndrome
※ introduction Bartter syndrome (BS) is a rare inherited disease characterised by a defect in the thick ascending limb of the loop of Henle, which results in low potassium levels (hypokalemia),[2] 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.
Reference
Wiki: Bartter syndrome
Reference
Wiki: Bartter syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD05220 | P48048 | 3758 | KCNJ1 | ATP-sensitive inward rectifier potassium channel 1 channel Kir1.1) | Homo sapiens |
| PTMD14490 | Q9UNF1 | 10916 | MAGED2 | Melanoma-associated antigen D2 | Homo sapiens |
