Distal Renal Tubular Acidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Hereditary forms of distal renal tubular acidosis (dRTA) are rare and mainly caused by mutations in ATP6V1B1, ATP6V0A4 and SLC4A1.
|
30554219 |
2019 |
Distal Renal Tubular Acidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A novel homozygous deletion in ATP6V0A4 causes distal renal tubular acidosis: A case report.
|
31348261 |
2019 |
Distal Renal Tubular Acidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Twenty-seven non-oriental patients with genetically confirmed dRTA were grouped according to the identified underlying mutations in either ATP6V1B1 (n = 10), ATP6V0A4 (n = 12), or SLC4A1 (n = 5) gene.
|
29725771 |
2018 |
Distal Renal Tubular Acidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The patient is a heterozygote for two different mutations, one in each of the genes ATP6V0A4 and ATP6V1B1, while no deleterious variation was detected in the remaining genes responsible for the recessive form of dRTA.
|
29024829 |
2018 |
Distal Renal Tubular Acidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Progressive sensorineural hearing loss develops in the majority of patients with recessive dRTA (ATP6V1B1 and ATP6V0A4 mutations).
|
28994037 |
2018 |
Distal Renal Tubular Acidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Primary distal renal tubular acidosis (dRTA) in children is a rare genetic disorder, and three causative mutated genes have been identified: SLC4A1, ATP6V1B1, and ATP6V0A4.
|
29627839 |
2018 |
Distal Renal Tubular Acidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Primary distal renal tubular acidosis (DRTA) is a rare disease caused by loss-of-function mutations in at least three genes (ATP6V0A4, ATP6V1B1, and SLC4A1) involved in urinary distal acidification.
|
26571219 |
2016 |
Distal Renal Tubular Acidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A novel ATP6V0A4 gene mutation confirmed autosomal recessive DRTA with normal hearing in the patient.
|
22854161 |
2014 |
Distal Renal Tubular Acidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
ATP6V1B1 and ATP6V0A4 genetic mutations cause recessive forms of distal renal tubular acidosis.
|
25498251 |
2014 |
Distal Renal Tubular Acidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report.
|
24564331 |
2014 |
Distal Renal Tubular Acidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis.
|
23729491 |
2013 |
Distal Renal Tubular Acidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Afterwards, ATP6V0A4 gene study in dRTA patients with normal hearing, and in those without any structural mutation in the ATP6V1B1 gene despite presenting SNHL.
|
24252324 |
2013 |
Distal Renal Tubular Acidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We identified two novel ATP6V0A4 mutations in a Chinese patient with distal renal tubular acidosis and late onset hearing loss, and presented the first direct evidence of progressive hearing loss associated with ATP6V0A4 mutations by sequential audiological assessments.
|
22093743 |
2012 |
Distal Renal Tubular Acidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ATP6V1B1, encoding the B-subtype unit of the apical H(+) ATPase, and ATP6V0A4, encoding the a-subtype unit, lead to the loss of function of the apical H(+) ATPase and are usually responsible for patients with autosomal recessive dRTA often associated with early or late sensorineural deafness.
|
23114896 |
2012 |
Distal Renal Tubular Acidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Novel compound heterozygous ATP6V0A4 mutations in an infant with distal renal tubular acidosis.
|
20221774 |
2010 |
Distal Renal Tubular Acidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The other two presented similar clinical manifestations of dRTA and different mutations in the ATP6V0A4 gene: one patient, showing EVA, developed an early SNHL, whereas in the other one, the SNHL appeared in the second decade of life and the vestibular aqueduct was normal.
|
19639346 |
2009 |
Distal Renal Tubular Acidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human a4 (ATP6V0A4) subunit cause distal renal tubular acidosis (dRTA).
|
17595521 |
2007 |
Distal Renal Tubular Acidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ATP6V1B1 and ATP6V0A4 genes, encoding subunits B1 and 4 of apical H(+) ATPase, cause recessive forms of distal renal tubular acidosis (dRTA).
|
16611712 |
2006 |
Distal Renal Tubular Acidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the accessory ATP6V0A4 (a4 isoform) subunit have recently been shown to cause an inherited form of distal renal tubular acidosis in humans.
|
14638902 |
2003 |
Distal Renal Tubular Acidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Previously we have shown that mutations in two kidney-specific genes, ATP6V1B1 and ATP6V0A4, encoding the H(+)-ATPase B1 and a4 subunit isoforms, cause recessive distal renal tubular acidosis (dRTA).
|
12384298 |
2002 |
Distal Renal Tubular Acidosis
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Distal Renal Tubular Acidosis
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|