DZIP1L gene related symptoms and diseases

All the information presented here about the DZIP1L gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to DZIP1L gene

Symptoms // Phenotype % Cases
Hepatic fibrosis Very Common - Between 80% and 100% cases
Hypertension Very Common - Between 80% and 100% cases
Polycystic kidney dysplasia Very Common - Between 80% and 100% cases
Stage 5 chronic kidney disease 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 DZIP1L gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Congenital hepatic fibrosis
  • Portal hypertension
  • Enlarged kidney
  • Multiple renal cysts
  • Chronic lung disease
  • Atelectasis
  • Esophageal varix
  • Cholangitis

And 38 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DZIP1L gene

Here you will find a list of rare diseases related to the DZIP1L. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE


Alternate names

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Is also known as polycystic kidney and hepatic disease 1, polycystic kidney disease, infantile, type i, pkhd1, arpkd, ar-pkd, polycystic kidney disease, autosomal recessive, polycystic kidney disease 4 with or without hepatic disease, pkd3, formerly

Description

Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

Most common symptoms of AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

  • Micrognathia
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Respiratory insufficiency


More info about AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

SOURCES: OMIM ORPHANET

POLYCYSTIC KIDNEY DISEASE 5; PKD5


Description

PKD5, a form of autosomal recessive polycystic kidney disease (ARPKD), is characterized by early childhood onset of progressive renal dysfunction associated with enlarged hyperechogenic kidneys that often results in end-stage renal disease in the second or third decade of life. Arterial hypertension is apparent in early childhood (summary by Lu et al., 2017).For a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 (OMIM ).

Most common symptoms of POLYCYSTIC KIDNEY DISEASE 5; PKD5

  • Hypertension
  • Abnormality of the kidney
  • Stage 5 chronic kidney disease
  • Hepatic fibrosis
  • Polycystic kidney dysplasia


More info about POLYCYSTIC KIDNEY DISEASE 5; PKD5

SOURCES: OMIM


Potential gene panels for DZIP1L 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

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

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

United States.

By PreventionGenetics PreventionGenetics Autosomal Recessive Polycystic Kidney Disease (ARPKD) Sequencing Panel with CNV Detection that also includes the following genes: DZIP1L PKHD1

More info about this panel

Autosomal Recessive Polycystic Kidney Disease (ARPKD) via DZIP1L Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the DZIP1L 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

DZIP1L Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DZIP1L gene.

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, INFANTILE (AUTOSOMAL RECESSIVE) Panel

Spain.

By Laboratorio de Genetica Clinica SL POLYCYSTIC KIDNEY DISEASE, INFANTILE (AUTOSOMAL RECESSIVE) that also includes the following genes: DZIP1L PKHD1

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


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