Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss

Preferred Label : Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss;

Symbol : DRTA3;

CISMeF acronym : RTADR; DRTA3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : RTADR;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ATPase, H transporting, lysosomal, V0 subunit A, isoform 4 gene (ATP6V0A4, 605239.0001);

Laboratory abnormalities : Hypokalemia; Urine pH 6.5; Hypercalciuria;

Prefixed ID : #602722;

Details

Origin ID

602722;

UMLS CUI

C5399980;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive distal renal tubular acidosis [ORDO Disease]
- Autosomal recessive distal renal tubular acidosis without deafness [ORDO Disease]
- renal tubular acidosis, distal, autosomal recessive, with Late-Onset sensorineural hearing loss [MeSH concept]
- renal tubular acidosis, distal, autosomal recessive, with Late-Onset sensorineural hearing loss [MeSH Supplementary Concept]
DO Cross reference
- renal tubular acidosis [DO Concept]
Genes related to phenotype
- Atpase, h+ transporting, lysosomal, v0 subunit a, isoform 4 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural hearing impairment [HPO term]
- Childhood onset [HPO term]
- Dehydration [HPO term]
- Distal renal tubular acidosis [HPO term]
- Failure to thrive [HPO term]
- Growth delay [HPO term]
- Hypercalciuria [HPO term]
- Hypokalemia [HPO term]
- Infantile onset [HPO term]
- Metabolic acidosis [HPO term]
- Neonatal onset [HPO term]
- Nephrocalcinosis [HPO term]
- Rickets [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Autosomal recessive distal renal tubular acidosis [ORDO Disease]
- Autosomal recessive distal renal tubular acidosis without deafness [ORDO Disease]
- Distal renal tubular acidosis [ORDO Disease]
See also inter- (CISMeF)
- ATPase H+ transporting V0 subunit a4 [ORDO Gene]
- ATPase H+ transporting V0 subunit a4 [HGNC gene]
- Renal tubular acidosis, distal, autosomal recessive [MeSH concept]
- renal tubular acidosis, distal, autosomal recessive [MeSH Supplementary Concept]
- renal tubular acidosis, distal, with progressive nerve deafness [MeSH Supplementary Concept]
- renal tubular acidosis, distal, with progressive nerve deafness [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive distal renal tubular acidosis [ORDO Disease]
- Renal tubular acidosis, distal, autosomal recessive [MeSH concept]
- renal tubular acidosis, distal, autosomal recessive [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Distal renal tubular acidosis [ORDO Disease]
- renal tubular acidosis [DO Concept]

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