Term ID: 8341
Name: Distal renal tubular acidosis
Synonym: Renal tubular acidosis, type I
Definition: A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia.
Comments:
Reference: HP:0008341
Genes and Diseases: Child Nodes: ........Generalized distal tubular acidosis (HP:0004916) Sister Nodes: ..Bicarbonate-wasting renal tubular acidosis (HP:0004910) ..Proximal renal tubular acidosis (HP:0002049) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0008341 HP:0008341 Distal renal tubular acidosis 0 ATP6V0A4 CL E G H 50617 866 OMIM:602722 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR 64 HP:0008341 HP:0008341 Distal renal tubular acidosis 0 CA2 CL E G H 760 1373 ORPHA:2785 Osteopetrosis with renal tubular acidosis 29 HP:0008341 HP:0008341 Distal renal tubular acidosis 0 CA2 CL E G H 760 1373 OMIM:259730 Osteopetrosis, autosomal recessive 3 . 29 HP:0008341 HP:0008341 Distal renal tubular acidosis 0 CLDN16 CL E G H 10686 2037 OMIM:248250 Hypomagnesemia 3, renal 58 HP:0008341 HP:0008341 Distal renal tubular acidosis 0 GATA3 CL E G H 2625 4172 OMIM:146255 Hypoparathyroidism, sensorineural deafness, and renal dysplasia 83 HP:0008341 HP:0008341 Distal renal tubular acidosis 0 HNF1B CL E G H 6928 11630 ORPHA:1309 Medullary sponge kidney HP:0040282 - Frequent 90 HP:0008341 HP:0008341 Distal renal tubular acidosis 0 SLC4A1 CL E G H 6521 11027 OMIM:179800 Renal tubular acidosis, distal, autosomal dominant 109 HP:0008341 HP:0008341 Distal renal tubular acidosis 0 SLC4A1 CL E G H 6521 11027 OMIM:611590 Renal tubular acidosis, distal, with hemolytic anemia 109 HP:0008341 HP:0004916 Generalized distal tubular acidosis 1 CL E G H
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
