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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



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD05220P480483758
KCNJ1
ATP-sensitive inward rectifier potassium channel 1 channel Kir1.1)
Homo sapiens
PTMD14490Q9UNF110916
MAGED2
Melanoma-associated antigen D2
Homo sapiens