ATP6V0A4 gene related symptoms and diseases

All the information presented here about the ATP6V0A4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ATP6V0A4 gene

Symptoms // Phenotype % Cases
Renal insufficiency Very Common - Between 80% and 100% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Abnormality of the spleen Uncommon - Between 30% and 50% cases
Unconjugated hyperbilirubinemia Uncommon - Between 30% and 50% cases
Chronic hemolytic anemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ATP6V0A4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Hypochromic anemia
  • Chronic myelogenous leukemia
  • Microalbuminuria
  • Abnormal hemoglobin
  • Night sweats
  • Hypoxemia
  • Left ventricular failure
  • Persistence of hemoglobin F

And 73 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ATP6V0A4 gene

Here you will find a list of rare diseases related to the ATP6V0A4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SICKLE CELL ANEMIA


Alternate names

SICKLE CELL ANEMIA Is also known as sickle cell disease

Description

Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.

Most common symptoms of SICKLE CELL ANEMIA

  • Intellectual disability
  • Pain
  • Anemia
  • Hypertension
  • Hepatomegaly


More info about SICKLE CELL ANEMIA

SOURCES: OMIM MESH ORPHANET

AUTOSOMAL RECESSIVE DISTAL RENAL TUBULAR ACIDOSIS


Alternate names

AUTOSOMAL RECESSIVE DISTAL RENAL TUBULAR ACIDOSIS Is also known as autosomal recessive distal rta, rta, distal, autosomal recessive, ar drta, renal tubular acidosis, autosomal recessive, with preserved hearing

Description

Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed.

Most common symptoms of AUTOSOMAL RECESSIVE DISTAL RENAL TUBULAR ACIDOSIS

  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment
  • Vomiting


More info about AUTOSOMAL RECESSIVE DISTAL RENAL TUBULAR ACIDOSIS

SOURCES: OMIM ORPHANET


Potential gene panels for ATP6V0A4 gene

Renal Tubular Acidosis, Distal, Autosomal Recessive Panel

United States.

By Genetics Laboratory Shodair Children's Hospital

This panel specifically test the ATP6V0A4 gene.

More info about this panel

ATP6V0A4 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 ATP6V0A4 gene.

More info about this panel

ExomePLUS Electrolyte & Kidney Stone Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine ExomePLUS Electrolyte & Kidney Stone that also includes the following genes: SCNN1A SCNN1B SLC12A1 SLC12A3 SLC2A2 VDR WNK4 CASR BSND CDC73

More info about this panel

ATP6V0A4. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ATP6V0A4 gene.

More info about this panel

Renal tubular acidosis, distal, AR (sequence analysis of ATP6V0A4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ATP6V0A4 gene.

More info about this panel

Renal tubular acidosis, distal, AR (NGS panel for 3 genes) Panel

Portugal.

By CGC Genetics Renal tubular acidosis, distal, AR (NGS panel for 3 genes) that also includes the following genes: ATP6V1B1 ATP6V0A4

More info about this panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1

More info about this panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1

More info about this panel

Renal tubular acidosis, distal, autosomal recessive Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the ATP6V0A4 gene.

More info about this panel

Distal Renal Tubular Acidosis, Autosomal Recessive, via ATP6V0A4 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ATP6V0A4 gene.

More info about this panel

Distal Renal Tubular Acidosis Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Distal Renal Tubular Acidosis Sequencing Panel with CNV Detection that also includes the following genes: CA2 ATP6V1B1 ATP6V0A4

More info about this panel

Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 VDR XDH SLC2A9 CA2

More info about this panel

Nephrolithiasis and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Nephrolithiasis and related disorders NGS panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR

More info about this panel

Nephrolithiasis and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Nephrolithiasis and related disorders Comprehensive panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR

More info about this panel

Nephrolithiasis and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Nephrolithiasis and related disorders Deletion / Duplication panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR

More info about this panel

Polycystic kidney disease and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Polycystic kidney disease and related disorders NGS panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD ALG9 ZNF423 INVS SEC61A1 BICC1 OFD1

More info about this panel

Polycystic kidney disease and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Polycystic kidney disease and related disorders Deletion / Duplication panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD ALG9 ZNF423 INVS SEC61A1 BICC1 OFD1

More info about this panel

Polycystic kidney disease and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Polycystic kidney disease and related disorders Comprehensive panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD ALG9 ZNF423 INVS SEC61A1 BICC1 OFD1

More info about this panel

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

Renal tubular acidosis, distal, autosomal recessive Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ATP6V0A4 gene.

More info about this panel

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

Single gene testing ATP6V0A4 Panel

Germany.

By CeGaT GmbH

This panel specifically test the ATP6V0A4 gene.

More info about this panel

ATP6V0A4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ATP6V0A4 gene.

More info about this panel

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

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

Nephrolithiasis Panel Panel

Finland.

By Blueprint Genetics Nephrolithiasis Panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 VDR XDH SLC2A9 CA2

More info about this panel

Autosomal recessive distal renal tubular acidosis without deafness Panel

Spain.

By Bioarray

This panel specifically test the ATP6V0A4 gene.

More info about this panel

RENAL TUBULAR ACIDOSIS, DISTAL (AUTOSOMAL RECESSIVE) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ATP6V0A4 gene.

More info about this panel

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

Autosomal Recessive Renal Tubular Acidosis with Progressive Nerve Deafness, Massive Sequencing (NGS) ATP6V1B1, ATP6V0A4 Genes Panel

Spain.

By Reference Laboratory Genetics Autosomal Recessive Renal Tubular Acidosis with Progressive Nerve Deafness, Massive Sequencing (NGS) ATP6V1B1, ATP6V0A4 Genes that also includes the following genes: ATP6V1B1 ATP6V0A4

More info about this panel

Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes Panel

Spain.

By Reference Laboratory Genetics Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes that also includes the following genes: SLC34A1 SLC9A3R1 TJP2 VDR CASR ANKH CLCN5 SLC34A3 CYP2R1 FAM20C

More info about this panel

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


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