Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Distal renal tubular acidosis with deafness (autosomal recessive)

Autosomal recessive distal renal tubular acidosis is caused by mutations of the ATP6V1B1 gene.

Symptoms

Deafness
Sensorineural deafness is typical of ATP6V1B1 mutations.

Systematic

Renal tubular acidosis
Combined renal tubular acidosis 3 with osteopetrosis 3
Distal renal tubular acidosis (autosomal dominant)
Distal renal tubular acidosis (autosomal recessive)
Distal renal tubular acidosis with deafness (autosomal recessive)
ATP6V1B1
Proximal renal tubular acidosis
Renal tubular acidosis with arthrogryposis

References:

1.

Stover EH et al. (2002) Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.

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2.

Borthwick KJ et al. (2003) A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis.

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3.

Fry AC et al. (2007) Inherited renal acidoses.

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4.

Simón H et al. (1979) The acidification defect in the syndrome of renal tubular acidosis with nerve deafness.

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5.

Donckerwolcke RA et al. (1976) The syndrome of renal tubular acidosis with nerve deafness.

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6.

Shapira E et al. (1974) Enzymatically inactive red cell carbonic anhydrase B in a family with renal tubular acidosis.

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7.

Cohen T et al. (1973) Familial infantile renal tubular acidosis and congenital nerve deafness: an autosomal recessive syndrome.

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8.

Anai T et al. (1984) Siblings with renal tubular acidosis and nerve deafness. The first family in Japan.

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9.

Cremers CW et al. (1980) Renal tubular acidosis and sensorineural deafness: an autosomal recessive syndrome.

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10.

Tashian RE et al. (1980) Inherited variants of human red cell carbonic anhydrases.

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11.

Dunger DB et al. (1980) Renal tubular acidosis and nerve deafness.

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12.

Karet FE et al. (1999) Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.

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13.

Feldman M et al. (2006) Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene.

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14.

Nikali K et al. (2008) Extensive founder effect for distal renal tubular acidosis (dRTA) with sensorineural deafness in an isolated South American population.

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15.

OMIM.ORG article

Omim 267300 [^]
Update: April 29, 2019