Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation

Description

Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features.

Clinical Features

Top most frequent phenotypes and symptoms related to Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation

  • Intellectual disability
  • Short stature
  • Growth delay
  • Nystagmus
  • Cataract
  • Coma
  • Acidosis
  • Glaucoma
  • Skin rash
  • Corneal opacity
And another 6 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Optic Atrophy and Early Glaucoma Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

AUH, BEST1, C12orf65, PAX6, PITX3, OPTN, OPA1, WFS1, FOXC1, PITX2, MFRP, CYP1B1, POLG, OPA3, ACO2, MTPAP, TMEM126A, SPG7, CISD2, NDUFS1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
SLC4A4 Sequencing.

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

SLC4A4
Specificity
100 %
Genes
100 %
Renal tubular acidosis, proximal, with ocular abnormalities (sequence analysis of SLC4A4 gene).

By CGC Genetics in Portugal.

SLC4A4
Specificity
100 %
Genes
100 %
Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

SLC4A4
Specificity
100 %
Genes
100 %
Glaucoma Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PAX6, OPTN, FOXC1, PITX2, MFRP, CYP1B1, LMX1B, MYOC, COL4A1, LTBP2, SLC4A4, SH3PXD2B, WDR36, COL8A2, ATOH7, OPTC, COL8A1
Specificity
6 %
Genes
100 %
Proximal Renal Tubular Acidosis with Ocular Abnormalities via the SLC4A4 Gene.

By PreventionGenetics PreventionGenetics in United States.

SLC4A4
Specificity
100 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Bartter Syndrome panel.

By Centogene AG - the Rare Disease Company in Germany.

CA2, WNK1, CASR, HSD11B2, SLC12A3, SCNN1A, SCNN1G, SCNN1B, BSND, CLCNKB, KCNJ1, SLC12A1, KCNJ10, ATP6V1B1, CLCNKA, SLC4A4, NR3C2, KLHL3, SLC4A1, WNK4 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Renal tubular acidosis, proximal, with ocular abnormalities.

By Centogene AG - the Rare Disease Company in Germany.

SLC4A4
Specificity
100 %
Genes
100 %
Renal tubular acidosis.

By Centogene AG - the Rare Disease Company in Germany.

SLC4A4
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Renal tubular acidosis Panel.

By CeGaT GmbH in Germany.

CA2, ATP6V1B1, SLC4A4, SLC4A1, ATP6V0A4
Specificity
20 %
Genes
100 %
Glaucoma.

By Asper Biogene Asper Biogene LLC in Estonia.

BEST1, PAX6, PITX3, OPTN, FOXC1, PITX2, CYP1B1, LMX1B, MYOC, SBF2, CANT1, ACVR1, ASB10, LTBP2, SLC4A4, WDR36, COL18A1, LTBP3, NTF4, LOXL1
Specificity
5 %
Genes
100 %
BARTTER SYNDROME.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CA2, WNK1, CASR, HSD11B2, SLC12A3, SCNN1A, SCNN1G, SCNN1B, BSND, CLCNKB, KCNJ1, SLC12A1, KCNJ10, ATP6V1B1, CLCNKA, SLC4A4, NR3C2, KLHL3, SLC4A1, WNK4 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Glaucoma (Advance).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MTHFR, TTR, BEST1, PAX6, PITX3, OPTN, OPA1, FOXC1, MFRP, CYP1B1, RRM2B, RPGRIP1, CA4, LMX1B, MYOC, RPS19, SBF2, POMT1, ISPD, CANT1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Glaucoma NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, TTR, BEST1, PAX6, PITX3, OPTN, OPA1, FOXC1, CYP1B1, RRM2B, CA4, LMX1B, MYOC, RPS19, SBF2, POMT1, ISPD, CANT1, ACVR1, LTBP2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
SLC4A4.

By Fulgent Genetics Fulgent Genetics in United States.

SLC4A4
Specificity
100 %
Genes
100 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
100 %
Renal Tubular Acidosis Panel.

By Blueprint Genetics in Finland.

CA2, ATP6V1B1, SLC4A4, SLC4A1, ATP6V0A4
Specificity
20 %
Genes
100 %
RENAL TUBULAR ACIDOSIS, PROXIMAL.

By Laboratorio de Genetica Clinica SL in Spain.

SLC4A4
Specificity
100 %
Genes
100 %
Proximal Renal Tubular Acidosis with Ocular Abnormalities , Sequencing SLC4A4 Gene.

By Reference Laboratory Genetics in Spain.

SLC4A4
Specificity
100 %
Genes
100 %
Renal Tubular Acidosis, Panel Massive Sequencing (NGS) ATP6V0A4, ATP6V1B1, CA2, SLC4A1, SLC4A4 Genes.

By Reference Laboratory Genetics in Spain.

CA2, ATP6V1B1, SLC4A4, SLC4A1, ATP6V0A4
Specificity
20 %
Genes
100 %

Alternate names

Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation Is also known as rta, proximal, autosomal recessive;ar prta; proximal renal tubular acidosis with ocular abnormalities and intellectual disability.



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