Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss

Preferred Label : Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss;

Symbol : DRTA2;

CISMeF acronym : DRTA2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Rta with progressive nerve deafness; Renal tubular acidosis with progressive nerve deafness; Renal tubular acidosis, autosomal recessive, with progressive nerve deafness;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the ATPase, H transporting, lysosomal, 56/58-KD, V1 subunit B, isoform 1 (ATP6V1B1, 192132.0001);

Laboratory abnormalities : Hypokalemia; Urine pH 6.5; Hypercalciuria;

Prefixed ID : #267300;

Details

Origin ID

267300;

UMLS CUI

C4016429;

Currated CISMeF NLP mapping
- Autosomal recessive distal renal tubular acidosis [ORDO Disease]
- Autosomal recessive distal renal tubular acidosis with deafness [ORDO Disease]
- Renal tubular acidosis with progressive nerve deafness (disorder) [SNOMED CT concept]
- 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 concept]
- renal tubular acidosis, distal, with progressive nerve deafness [MeSH Supplementary Concept]
Genes related to phenotype
- Atpase, h+ transporting, lysosomal, 56/58-kd, v1 subunit b, isoform 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Nephrolithiasis [HPO term]
- Renal tubular acidosis [HPO term]
- Sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Autosomal recessive distal renal tubular acidosis [ORDO Disease]
- Autosomal recessive distal renal tubular acidosis with deafness [ORDO Disease]
- Distal renal tubular acidosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive distal renal tubular acidosis with deafness [ORDO Disease]
- Renal tubular acidosis with progressive nerve deafness (disorder) [SNOMED CT concept]
- renal tubular acidosis, distal, with progressive nerve deafness [MeSH Supplementary Concept]
- renal tubular acidosis, distal, with progressive nerve deafness [MeSH concept]
Validated automatic mappings to NTBT
- Distal renal tubular acidosis [ORDO Disease]
- renal tubular acidosis with deafness [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients