Renal Tubular Acidosis, Distal, With Progressive Nerve Deafness

Clinical Features

Top most frequent phenotypes and symptoms related to Renal Tubular Acidosis, Distal, With Progressive Nerve Deafness

  • Intellectual disability
  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Vomiting
  • Acidosis
  • Paralysis
  • Stage 5 chronic kidney disease
  • Metabolic acidosis
  • Dehydration

And another 9 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Renal Tubular Acidosis, Distal, With Progressive Nerve Deafness Is also known as rta with progressive nerve deafness, renal tubular acidosis with progressive nerve deafness, renal tubular acidosis, autosomal recessive, with progressive nerve deafness.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Renal Tubular Acidosis, Distal, With Progressive Nerve Deafness Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)

View the complete list with 149 more genes
Specificity
1 %
Genes
100 %
NGS Hearing Loss Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SIX1, SNAI2, SMPX, SOX10, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN, CDH23, CACNA1D, ACTG1, PCDH15, USH1G, WHRN , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics (United States).

ROR1, SIX1, SIX5, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TWNK, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN , (...)

View the complete list with 130 more genes
Specificity
1 %
Genes
100 %
Hearing Loss Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN , (...)

View the complete list with 100 more genes
Specificity
1 %
Genes
100 %
Renal tubular acidosis, distal, autosomal recessive with nerve deafness.

By Genetics Laboratory Shodair Children's Hospital (United States).

ATP6V1B1
Specificity
100 %
Genes
100 %
ATP6V1B1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

ATP6V1B1
Specificity
100 %
Genes
100 %
ATP6V1B1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

ATP6V1B1
Specificity
100 %
Genes
100 %
OtoGenome Test for Hearing Loss (110 Genes).

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).

BCS1L, SIX1, SNAI2, SMPX, SOX10, TECTA, TIMM8A, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN, CLIC5, CDH23, CABP2, RIPOR2, CACNA1D, ACTG1, PCDH15 , (...)

View the complete list with 89 more genes
Specificity
1 %
Genes
100 %

You can get up to 47 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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