GANAB gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to GANAB gene

Symptoms // Phenotype % Cases
Polycystic kidney dysplasia Very Common - Between 80% and 100% cases
Dilatation Very Common - Between 80% and 100% cases
Dilatation of the cerebral artery Very Common - Between 80% and 100% cases
Renal cyst Very Common - Between 80% and 100% cases
Abnormality of the kidney Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Hepatic cysts
  • Renal insufficiency
  • Hypertension
  • Not very common - Between 30% and 50% cases

  • Cerebral berry aneurysm
  • Decreased liver function
  • Aortic aneurysm
  • Tricuspid regurgitation
  • Cerebral hemorrhage

And 34 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GANAB gene

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


AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE


Alternate names

AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE Is also known as apkd1, adpkd, polycystic kidney disease, adult, polycystic kidney disease, adult, type i, potter type iii polycystic kidney disease, formerly

Description

PKD1, an autosomal dominant form of polycystic kidney disease (ADPKD), has the cardinal manifestations of renal cysts, liver cysts, and intracranial aneurysm. Acute and chronic pain and nephrolithiasis are common complications. The most serious renal complication is end-stage renal disease, which occurs in approximately 50% of patients by the age of 60 years. The typical age of onset is in middle life, but the range is from infancy to 80 years (summary by Wu and Somlo, 2000). Genetic Heterogeneity of Polycystic Kidney DiseaseAlso see polycystic kidney disease-2 (PKD2 ), caused by mutation in the PKD2 gene (OMIM ) on chromosome 4q22; PKD3 (OMIM ), caused by mutation in the GANAB gene (OMIM ) on chromosome 11q13; PKD4 (OMIM ), caused by mutation in the PKHD1 gene (OMIM ) on chromosome 6p12; PKD5 (OMIM ), caused by mutation in the DZIP1L gene (OMIM ) on chromosome 3q22; and PKD6 (OMIM ), caused by mutation in the DNAJB11 gene (OMIM ) on chromosome 3q27.

Most common symptoms of AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

  • Scoliosis
  • Pain
  • Hypertension
  • Talipes equinovarus
  • Renal insufficiency


More info about AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

SOURCES: ORPHANET OMIM

POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD3


Alternate names

POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD3 Is also known as apkd3, polycystic kidney disease, adult, type iii

Description

Polycystic kidney disease-3, a form of autosomal dominant PKD (ADPKD), is characterized by renal cysts, often associated with liver cysts, that may lead to organ dysfunction. Affected individuals usually present in mid to late adulthood with progressive cysts in the kidney and/or liver. The renal disease is relatively mild, and only some patients develop hypertension; renal insufficiency usually does not occur. The liver disease shows a wide spectrum of severity: some patients have no cysts, whereas others have severe liver involvement (summary by Porath et al., 2016).For a discussion of genetic heterogeneity of PKD, see PKD1 (OMIM ).

Most common symptoms of POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD3

  • Hypertension
  • Renal insufficiency
  • Dilatation
  • Abnormality of the kidney
  • Abnormality of the liver


More info about POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD3

SOURCES: OMIM


Potential gene panels for GANAB gene

Cystic Diseases of the Liver/Kidney Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Cystic Diseases of the Liver/Kidney Panel by next-generation sequencing (NGS) that also includes the following genes: DNAJB11 SEC63 ALG8 DZIP1L GANAB LRP5 PKD2 PKHD1 PRKCSH

More info about this panel

Polycystic kidney and liver disease modifier panel Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Polycystic kidney and liver disease modifier panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD DNAJB11 SEC61B SEC61A1 SEC63 ALG8 DZIP1L

More info about this panel

Polycystic kidney disease AD (sequence analysis of GANAB gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GANAB gene.

More info about this panel

Polycystic kidney disease AD (sequence analysis of GANAB gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GANAB gene.

More info about this panel

Autosomal Dominant Polycystic Kidney Disease (ADPKD) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Autosomal Dominant Polycystic Kidney Disease (ADPKD) Sequencing Panel with CNV Detection that also includes the following genes: HNF1B DNAJB11 GANAB PKD1 PKD2

More info about this panel

Autosomal Dominant and Recessive Polycystic Kidney Disease (ADPKD and ARPKD) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Autosomal Dominant and Recessive Polycystic Kidney Disease (ADPKD and ARPKD) Sequencing Panel with CNV Detection that also includes the following genes: HNF1B DNAJB11 DZIP1L GANAB PKD1 PKD2 PKHD1

More info about this panel

Polycystic Liver Disease (PLD) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Polycystic Liver Disease (PLD) Sequencing Panel with CNV Detection that also includes the following genes: SEC63 GANAB LRP5 PKD1 PKD2 PRKCSH

More info about this panel

Autosomal Dominant Polycystic Kidney Disease via GANAB Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the GANAB gene.

More info about this panel

Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection that also includes the following genes: SDCCAG8 HNF1B TSC1 TSC2 UMOD VHL NEK8 DNAJB11 ZNF423 DICER1

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 liver disease Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Polycystic liver disease Comprehensive panel that also includes the following genes: SEC63 GANAB LRP5 PKD1 PKD2 PKHD1 PRKCSH

More info about this panel

Polycystic liver disease Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Polycystic liver disease Deletion / Duplication panel that also includes the following genes: SEC63 GANAB LRP5 PKD1 PKD2 PKHD1 PRKCSH

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 liver disease NGS panel Panel

United States.

By Connective Tissue Gene Tests Polycystic liver disease NGS panel that also includes the following genes: SEC63 GANAB LRP5 PKD1 PKD2 PKHD1 PRKCSH

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

Polycystic kidney disease Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Polycystic kidney disease that also includes the following genes: GANAB PKD1 PKD2 PKHD1

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

GANAB Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GANAB gene.

More info about this panel

Polycystic Liver Disease Panel Panel

Finland.

By Blueprint Genetics Polycystic Liver Disease Panel that also includes the following genes: SEC63 GANAB LRP5 PKD1 PKD2 PRKCSH

More info about this panel

Cystic Kidney Disease Panel Panel

Finland.

By Blueprint Genetics Cystic Kidney Disease Panel that also includes the following genes: SDCCAG8 SIX5 HNF1B TSC1 TSC2 UMOD VHL NEK8 ZNF423 INVS

More info about this panel

Polycystic Kidney Disease Panel Panel

Finland.

By Blueprint Genetics Polycystic Kidney Disease Panel that also includes the following genes: SEC63 DZIP1L GANAB JAG1 LRP5 NOTCH2 PKD1 PKD2 PKHD1 PRKCSH

More info about this panel

POLYCYSTIC KIDNEY DISEASE (AUTOSOMAL DOMINANT) Panel

Spain.

By Laboratorio de Genetica Clinica SL POLYCYSTIC KIDNEY DISEASE (AUTOSOMAL DOMINANT) that also includes the following genes: BICC1 GANAB PKD1 PKD2

More info about this panel

POLYCYSTIC KIDNEY DISEASE NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL POLYCYSTIC KIDNEY DISEASE NGS PANEL that also includes the following genes: BICC1 DZIP1L GANAB PKD1 PKD2 PKHD1

More info about this panel

Polycystic Kidney Disease Panel

Australia.

By Genome.One Polycystic Kidney Disease that also includes the following genes: HNF1B TSC1 TSC2 UMOD OFD1 GANAB PKD1 PKD2 PKHD1

More info about this panel


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