SEC63 gene related symptoms and diseases

All the information presented here about the SEC63 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SEC63 gene

Symptoms // Phenotype % Cases
Hepatomegaly Very Common - Between 80% and 100% cases
Polycystic liver disease Very Common - Between 80% and 100% cases
Hepatic cysts Very Common - Between 80% and 100% cases
Abnormality of the kidney Very Common - Between 80% and 100% cases
Abnormality of the liver Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SEC63 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Back pain
  • Increased total bilirubin
  • Abnormality of the pancreas
  • Abnormality of the respiratory system
  • Multiple renal cysts
  • Cerebral hemorrhage
  • Elevated alkaline phosphatase
  • Polycystic kidney dysplasia

And 12 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to SEC63 gene

Here you will find a list of rare diseases related to the SEC63. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ISOLATED POLYCYSTIC LIVER DISEASE


Alternate names

ISOLATED POLYCYSTIC LIVER DISEASE Is also known as pcld, autosomal dominant polycystic liver disease, adpcld

Description

Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD).

Most common symptoms of ISOLATED POLYCYSTIC LIVER DISEASE

  • Hepatomegaly
  • Respiratory insufficiency
  • Dilatation
  • Abdominal pain
  • Gastroesophageal reflux


More info about ISOLATED POLYCYSTIC LIVER DISEASE

SOURCES: ORPHANET OMIM

POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS; PCLD2


Description

PCLD2 is an autosomal dominant disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development. Abnormal biliary structures may be present early in life, but they usually remain asymptomatic until cyst growth initiates during adulthood. In advanced stages, patients may develop massively enlarged livers, which cause a spectrum of clinical features and complications. Genetic studies suggest that an accumulation of somatic hits in cyst epithelium determines the rate of cyst formation. A subset of patients (28-35%) may develop kidney cysts that are usually incidental findings and do not result in clinically significant renal disease (review by Cnossen and Drenth, 2014).For a discussion of genetic heterogeneity of polycystic liver disease, see PCLD1 (OMIM ).

Most common symptoms of POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS; PCLD2

  • Neoplasm
  • Hepatomegaly
  • Abnormality of the kidney
  • Abnormality of the liver
  • Hepatic cysts


More info about POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS; PCLD2

SOURCES: OMIM


Potential gene panels for SEC63 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 Liver Disease, ADPLD - PRKCSH, SEC63 Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Polycystic Liver Disease, ADPLD - PRKCSH, SEC63 that also includes the following genes: SEC63 PRKCSH

More info about this panel

Polycystic Liver Disease Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Polycystic Liver Disease that also includes the following genes: SEC63 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

SEC63. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the SEC63 gene.

More info about this panel

Polycystic liver disease (sequence analysis of SEC63 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SEC63 gene.

More info about this panel

Isolated Polycystic Liver Disease (PCLD) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Isolated Polycystic Liver Disease (PCLD) Sequencing Panel with CNV Detection that also includes the following genes: SEC63 LRP5 PRKCSH

More info about this panel

Isolated Polycystic Liver Disease (PCLD) via SEC63 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the SEC63 gene.

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

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 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

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

Nephrology Endocrinology and Electrolytes - panels Panel

Germany.

By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3

More info about this panel

Polycystic liver, disease: SEC63 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the SEC63 gene.

More info about this panel

Polycystic Liver Disease: SEC63 Full Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the SEC63 gene.

More info about this panel

Polycystic Liver Disease: SEC63 Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the SEC63 gene.

More info about this panel

SEC63 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SEC63 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

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 liver disease Panel

Spain.

By Bioarray

This panel specifically test the SEC63 gene.

More info about this panel

Next Generation Sequencing for Jaundice Associated Genes Variation Test Panel

Taiwan.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital Next Generation Sequencing for Jaundice Associated Genes Variation Test that also includes the following genes: BCS1L SCO1 SLC10A1 SLC40A1 SLCO1A2 SLCO1B1 SLCO1B3 SLCO2B1 SLC25A13 SUCLG1

More info about this panel

POLYCYSTIC LIVER DISEASE Panel

Spain.

By Laboratorio de Genetica Clinica SL POLYCYSTIC LIVER DISEASE that also includes the following genes: SEC63 ALG8 LRP5 PRKCSH

More info about this panel

POLYCYSTIC LIVER DISEASE NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL POLYCYSTIC LIVER DISEASE NGS PANEL that also includes the following genes: SEC63 ALG8 LRP5 PRKCSH

More info about this panel

Isolated Polycystic Liver Disease , Sequencing SEC63 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SEC63 gene.

More info about this panel

Polycystic Liver Disease: SEC63 Gene Deletion/Duplication Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the SEC63 gene.

More info about this panel

Polycystic Liver Disease: SEC63 Gene Sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the SEC63 gene.

More info about this panel


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