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.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

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.

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

Search interest in GANAB

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

GANAB gene related symptoms and diseases

Top 5 symptoms and clinical features associated to GANAB gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Not very common - Between 30% and 50% cases

Rare diseases associated to GANAB gene

AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

Alternate names

Description

Most common symptoms of AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

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

Alternate names

Description

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

Search interest in GANAB

Potential gene panels for GANAB gene

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

Polycystic kidney and liver disease modifier panel Panel

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

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

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

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

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

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

Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection Panel

Polycystic kidney disease and related disorders NGS panel Panel

Polycystic liver disease Comprehensive panel Panel

Polycystic liver disease Deletion / Duplication panel Panel

Polycystic kidney disease and related disorders Deletion / Duplication panel Panel

Polycystic liver disease NGS panel Panel

Polycystic kidney disease and related disorders Comprehensive panel Panel

Polycystic kidney disease Panel

Hereditary kidney disorders - different panels Panel

GANAB Panel

Polycystic Liver Disease Panel Panel

Cystic Kidney Disease Panel Panel

Polycystic Kidney Disease Panel Panel

POLYCYSTIC KIDNEY DISEASE (AUTOSOMAL DOMINANT) Panel

POLYCYSTIC KIDNEY DISEASE NGS PANEL Panel

Polycystic Kidney Disease Panel