SLC4A4 gene related symptoms and diseases

All the information presented here about the SLC4A4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SLC4A4 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Very Common - Between 80% and 100% cases
Growth delay Very Common - Between 80% and 100% cases
Nystagmus Very Common - Between 80% and 100% cases
Cataract Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SLC4A4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Glaucoma
  • Acidosis
  • Corneal opacity
  • Renal tubular acidosis
  • Band keratopathy
  • Proximal renal tubular acidosis
  • Hyperchloremic acidosis
  • Bicarbonate-wasting renal tubular acidosis

And 1 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SLC4A4 gene

Here you will find a list of rare diseases related to the SLC4A4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL RECESSIVE PROXIMAL RENAL TUBULAR ACIDOSIS

Alternate names

AUTOSOMAL RECESSIVE PROXIMAL RENAL TUBULAR ACIDOSIS Is also known as ar prta, proximal renal tubular acidosis with ocular abnormalities and intellectual disability, rta, proximal, autosomal recessive

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.

Most common symptoms of AUTOSOMAL RECESSIVE PROXIMAL RENAL TUBULAR ACIDOSIS

  • Intellectual disability
  • Short stature
  • Growth delay
  • Nystagmus
  • Cataract


More info about AUTOSOMAL RECESSIVE PROXIMAL RENAL TUBULAR ACIDOSIS

SOURCES: MESH ORPHANET OMIM


Potential gene panels for SLC4A4 gene

Optic Atrophy and Early Glaucoma Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Optic Atrophy and Early Glaucoma Panel that also includes the following genes: SLC4A4 SPG7 TBK1 ACO2 BEST1 WFS1 ACVR1 OPTN ASB10 MFRP

More info about this panel
United States.

SLC4A4 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the SLC4A4 gene.

More info about this panel
United States.

Renal tubular acidosis, proximal, with ocular abnormalities (sequence analysis of SLC4A4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SLC4A4 gene.

More info about this panel
Portugal.

Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the SLC4A4 gene.

More info about this panel
Germany.

Glaucoma Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Glaucoma Sequencing Panel with CNV Detection that also includes the following genes: SLC4A4 ATOH7 OPTN MFRP COL4A1 COL8A1 COL8A2 CYP1B1 SH3PXD2B WDR36

More info about this panel
United States.

Proximal Renal Tubular Acidosis with Ocular Abnormalities via SLC4A4 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the SLC4A4 gene.

More info about this panel
United States.

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel
Germany.

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel
Germany.

Bartter Syndrome panel Panel

Germany.

By Centogene AG - the Rare Disease Company Bartter Syndrome panel that also includes the following genes: SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A2 SLC12A3 SLC12A7 SLC4A4 CA2 SLC12A5

More info about this panel
Germany.

Renal tubular acidosis, proximal, with ocular abnormalities Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SLC4A4 gene.

More info about this panel
Germany.

Renal tubular acidosis Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SLC4A4 gene.

More info about this panel
Germany.

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel
Germany.

Renal tubular acidosis Panel Panel

Germany.

By CeGaT GmbH Renal tubular acidosis Panel that also includes the following genes: SLC4A4 CA2 ATP6V1B1 ATP6V0A4

More info about this panel
Germany.

Glaucoma Panel

Estonia.

By Asper Biogene Asper Biogene LLC Glaucoma that also includes the following genes: SLC4A4 BEST1 ACVR1 OPTN ASB10 CANT1 SBF2 COL18A1 CYP1B1 WDR36

More info about this panel
Estonia.

BARTTER SYNDROME Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases BARTTER SYNDROME that also includes the following genes: SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A2 SLC12A3 SLC12A7 SLC4A4 CA2 SLC12A5

More info about this panel
Spain.

Glaucoma (Advance) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Glaucoma (Advance) that also includes the following genes: RPS19 SLC4A4 TTR BEST1 RPGRIP1 CA4 ACVR1 OPTN ASB10 OLFM2

More info about this panel
Spain.

Glaucoma NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Glaucoma NGS Panel that also includes the following genes: RPS19 SLC4A4 TTR BEST1 CA4 ACVR1 OPTN RRM2B CANT1 SBF2

More info about this panel
United States.

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel
United States.

SLC4A4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SLC4A4 gene.

More info about this panel
United States.

KidneySeq - 264 Genes Panel

United States.

By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E

More info about this panel
United States.

Renal Tubular Acidosis Panel Panel

Finland.

By Blueprint Genetics Renal Tubular Acidosis Panel that also includes the following genes: SLC4A4 CA2 ATP6V1B1 ATP6V0A4

More info about this panel
Finland.

RENAL TUBULAR ACIDOSIS, PROXIMAL Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the SLC4A4 gene.

More info about this panel
Spain.

GLAUCOMA NGS ÀNEL Panel

Spain.

By Laboratorio de Genetica Clinica SL GLAUCOMA NGS ÀNEL that also includes the following genes: SLC4A4 TEK BEST1 ACVR1 OPTN ASB10 MFRP CANT1 SBF2 COL18A1

More info about this panel
Spain.

RENAL TUBULAR NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL RENAL TUBULAR NGS PANEL that also includes the following genes: SLC4A4 CA2 ATP6V1B1 ATP6V0A4

More info about this panel
Spain.

BARTTER SYNDROME NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL BARTTER SYNDROME NGS PANEL that also includes the following genes: SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A2 SLC12A3 SLC12A7 SLC4A4 CA2 SLC12A5

More info about this panel
Spain.

Proximal Renal Tubular Acidosis with Ocular Abnormalities , Sequencing SLC4A4 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SLC4A4 gene.

More info about this panel
Spain.

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

Spain.

By Reference Laboratory Genetics Renal Tubular Acidosis, Panel Massive Sequencing (NGS) ATP6V0A4, ATP6V1B1, CA2, SLC4A1, SLC4A4 Genes that also includes the following genes: SLC4A4 CA2 ATP6V1B1 ATP6V0A4

More info about this panel
Spain.

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