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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H00429 | Proximal renal tubular acidosis (RTA type 2) | ... bicarbonate reabsorption in the proximal tubules, resulting in low renal bicarbonate threshold. Mutations in the gene SLC4A4, encoding Na+-HCO3- cotransporter (NBC-1), have been found in proximal RTA. | Urinary system disease | SLC4A4 [HSA:8671] [KO:K13575] | |
H02310 | Renal tubular acidosis | Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. RTA can be subcategorized into different ... | Urinary system disease |
(type 1) SLC4A1 [HSA:6521] [KO:K06573] (type 1) ATP6V1B1 [HSA:525] [KO:K02147] (type 1) ATP6V0A4 [HSA:50617] [KO:K02154] (type 2) SLC4A4 [HSA:8671] [KO:K13575] (type 3) CA2 [HSA:760] [KO:K18245] (type 4) SCNN1A [HSA:6337] [KO:K04824] (type 4) SCNN1B [HSA:6338] [KO:K04825] (type 4) SCNN1G [HSA:6340] [KO:K04827] (type 4) NR3C2 [HSA:4306] [KO:K08555] (type 4) WNK1 [HSA:65125] [KO:K08867] (type 4) WNK4 [HSA:65266] [KO:K08867] (type 4) KLHL3 [HSA:26249] [KO:K10443] (type 4) CUL3 [HSA:8452] [KO:K03869] |
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