Renal tubular acidosis with deafness

Renal tubular acidosis with deafness is a disorder characterized by kidney (renal) problems and hearing loss. The kidneys normally filter fluid and waste products from the body and remove them in urine; however, in people with this disorder, the kidneys ...1

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Symptoms of Renal tubular acidosis with deafness

Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms

  • Autosomal ...
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Genetics of Renal tubular acidosis with deafness

Genetic Changes: Renal tubular acidosis with deafness is caused by mutations in the ATP6V1B1 or ATP6V0A4 gene. These genes provide instructions for making proteins that are parts (subunits) of a large protein complex known as vacuolar H+-ATPase (V-ATPase) ...2

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Diagnosis

See also related information on diagnosis:

Treatments

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Causes

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Names and Terminology

Other Names for This Condition

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ renal-tubular-acidosis-with-deafness
  2. ibid.

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