Renal tubular acidosis, distal, 1

Preferred Label : Renal tubular acidosis, distal, 1;

Symbol : DRTA1;

CISMeF acronym : DRTA1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Renal tubular acidosis I; Rta, distal type, autosomal dominant; Rta, classic type; Rta, gradient type;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the solute carrier family 4 (anion exchanger), member 1 gene (SLC4A1, 109270.0012);

Laboratory abnormalities : Urine pH 6.4; Hypocitraturia; Hypokalemia (variable); Hypercalciuria;

Prefixed ID : #179800;

Details

Origin ID

179800;

UMLS CUI

C1704380;

Broader ORDO disease(s)
- Distal renal tubular acidosis [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal dominant distal renal tubular acidosis [ORDO Disease]
- Distal renal tubular acidosis [HPO term]
- Hypokalemic distal renal tubular acidosis (disorder) [Inactive SNOMED CT concept]
- Type 1 (distal) RTA [MedDRA LLT]
- Type I Renal Tubular Acidosis [NCIt concept]
- Type I renal tubular acidosis [ICD-11 More detail]
- hypokalemic distal renal tubular acidosis [SNOMED Notion]
- renal tubular acidosis type I [Disease (Nov.)]
- renal tubular acidosis, type I [MeSH concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Distal renal tubular acidosis [HPO term]
- Elevated circulating creatinine concentration [HPO term]
- Growth failure [HPO term]
- Hypocalcemia [HPO term]
- Hypokalemia [HPO term]
- Impaired urinary acidification [HPO term]
- Juvenile onset [HPO term]
- Muscle weakness [HPO term]
- Nephrocalcinosis [HPO term]
- Nephrolithiasis [HPO term]
- Osteomalacia [HPO term]
- Pathologic fracture [HPO term]
ORDO concept(s)
- Autosomal dominant distal renal tubular acidosis [ORDO Disease]
- Distal renal tubular acidosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Distal Renal Tubular Acidosis [NCIt concept]
- Distal renal tubular acidosis [HPO term]
- Distal renal tubular acidosis [ORDO Disease]
- Distal renal tubular acidosis [MedDRA LLT]
- Distal renal tubular acidosis (disorder) [SNOMED CT concept]
- Hypokalemic distal renal tubular acidosis (disorder) [Inactive SNOMED CT concept]
- Type 1 (distal) RTA [MedDRA LLT]
- Type I Renal Tubular Acidosis [NCIt concept]
- Type I renal tubular acidosis [ICD-11 More detail]
- hypokalemic distal renal tubular acidosis [SNOMED Notion]
- renal tubular acidosis type I [Disease (Nov.)]
Validated automatic mappings to NTBT
- Distal Renal Tubular Acidosis [NCIt concept]
- Distal renal tubular acidosis [ORDO Disease]
- Distal renal tubular acidosis (disorder) [SNOMED CT concept]
- Renal Tubular Acidosis [NCIt concept]
- acidosis, renal tubular [MeSH concept]
- acidosis, renal tubular [MeSH Descriptor]

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