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Diseases

Renal Tubular Acidosis, Distal, Autosomal Dominant

renal tubular acidosis, distal, autosomal dominant

Entity Type
Diseases
Relation Groups
1
Relation Preview
6

Basic Information

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Core Information

Disease Name
Renal Tubular Acidosis, Distal, Autosomal Dominant
Standard Disease Name
renal tubular acidosis, distal, autosomal dominant
MeSH Tree
No data
ICD-10
No data

Identifiers

DO ID
No data
MeSH ID
D000141
OMIM ID
179800
UMLS ID
C1704380
HPO ID
No data

Description and Extensions

Description
NCI2016_NICHD_1602D:Impairment in renal collecting tubule acid secretion that results in a hypokalemic hyperchloremic metabolic acidosis.|NCI2016_NICHD_1602D:Failure of the renal tubules of the kidney to excrete urine of sufficient acidity, resulting in metabolic acidosis.|NCI2016_02D:Impairment in renal collecting tubule acid secretion that results in a hypokalemic hyperchloremic metabolic acidosis.(NICHD)|NCI2016_02D:Failure of the renal tubules of the kidney to excrete urine of sufficient acidity, resulting in metabolic acidosis.(NICHD)|MSH2017_2016_08_12:The genetic defect is in the anion exchange protein gene SLC4A1 resulting in impaired excretion of hydrogen ions or renal acids in the distal renal tubules.|HPO2016_07_04: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. [HPO:probinson]
Related

Direct relations and traceable candidates grouped by relation type.

Related Targets

target disease6 Targets
01
AMBP
alpha-1-microglobulin/bikunin precursor
alpha-1-microglobulin/bikunin precursor