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
Search interest in SLC4A4
Potential gene panels for SLC4A4 gene
Optic Atrophy and Early Glaucoma Panel Panel
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 panelSLC4A4 Sequencing Panel
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 panelRenal tubular acidosis, proximal, with ocular abnormalities (sequence analysis of SLC4A4 gene) Panel
By CGC Genetics
This panel specifically test the SLC4A4 gene.
More info about this panelRenal tubular acidosis, proximal, with ocular abnormalities and mental retardation Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the SLC4A4 gene.
More info about this panelGlaucoma Sequencing Panel with CNV Detection Panel
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 panelProximal Renal Tubular Acidosis with Ocular Abnormalities via SLC4A4 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the SLC4A4 gene.
More info about this panelMental retardation - different panels Panel
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 panelHereditary kidney disorders - different panels Panel
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 panelBartter Syndrome panel Panel
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 panelRenal tubular acidosis, proximal, with ocular abnormalities Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the SLC4A4 gene.
More info about this panelRenal tubular acidosis Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the SLC4A4 gene.
More info about this panelAllNeuro panel Panel
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 panelRenal tubular acidosis Panel Panel
By CeGaT GmbH Renal tubular acidosis Panel that also includes the following genes: SLC4A4 CA2 ATP6V1B1 ATP6V0A4
More info about this panelGlaucoma Panel
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 panelBARTTER SYNDROME Panel
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 panelGlaucoma (Advance) Panel
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 panelGlaucoma NGS Panel Panel
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 panelIntellectual Disability NGS Panel Panel
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 panelSLC4A4 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC4A4 gene.
More info about this panelKidneySeq - 264 Genes Panel
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 panelRenal Tubular Acidosis Panel Panel
By Blueprint Genetics Renal Tubular Acidosis Panel that also includes the following genes: SLC4A4 CA2 ATP6V1B1 ATP6V0A4
More info about this panelRENAL TUBULAR ACIDOSIS, PROXIMAL Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the SLC4A4 gene.
More info about this panelGLAUCOMA NGS ÀNEL Panel
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 panelRENAL TUBULAR NGS PANEL Panel
By Laboratorio de Genetica Clinica SL RENAL TUBULAR NGS PANEL that also includes the following genes: SLC4A4 CA2 ATP6V1B1 ATP6V0A4
More info about this panelBARTTER SYNDROME NGS PANEL Panel
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 panelProximal Renal Tubular Acidosis with Ocular Abnormalities , Sequencing SLC4A4 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the SLC4A4 gene.
More info about this panelRenal Tubular Acidosis, Panel Massive Sequencing (NGS) ATP6V0A4, ATP6V1B1, CA2, SLC4A1, SLC4A4 Genes Panel
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
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