RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Molecular mechanisms of cutis laxa- and distal renal tubular acidosis-causing mutations in V-ATPase a subunits, ATP6V0A2 and ATP6V0A4.
|
29311258 |
2018 |
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
We investigated a sporadic case of dRTA with a compound heterozygous mutation in the ATP6V0A4 gene, revealed by next generation sequencing.
|
29202719 |
2017 |
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families.
|
27247958 |
2016 |
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Whole-exome sequencing as a diagnostic tool for distal renal tubular acidosis.
|
26208211 |
2016 |
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|
0.770 |
GermlineCausalMutation
|
disease |
ORPHANET |
The ATP6V1B1 and ATP6V0A4 genes were directly sequenced in 11 Japanese patients with primary dRTA from nine unrelated kindreds.
|
23729491 |
2013 |
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
The ATP6V1B1 and ATP6V0A4 genes were directly sequenced in 11 Japanese patients with primary dRTA from nine unrelated kindreds.
|
23729491 |
2013 |
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ATP6V0A4 gene lead to autosomal recessive distal renal tubular acidosis in patients, who often show sensorineural hearing impairment.
|
23065636 |
2013 |
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Importance of early audiologic assessment in distal renal tubular acidosis.
|
23754897 |
2011 |
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
This is the first case of dRTA with hyperammonemia in which the ATP6V0A4 mutations were identified. dRTA should be considered in the differential diagnosis of children presenting with hyperammonemia.
|
20221774 |
2010 |
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.
|
16611712 |
2006 |
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.
|
16611712 |
2006 |
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
|
12414817 |
2002 |
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
|
12414817 |
2002 |
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
|
12414817 |
2002 |
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
|
12414817 |
2002 |
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.
|
10973252 |
2000 |
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|
0.770 |
Biomarker
|
disease |
BEFREE |
Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34.
|
10577919 |
1999 |
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|
0.770 |
Biomarker
|
disease |
CTD_human |
|
|
|
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
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 |