WDR73 gene related symptoms and diseases

All the information presented here about the WDR73 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to WDR73 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Muscular hypotonia Very Common - Between 80% and 100% cases
Brain atrophy Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Nephrotic syndrome Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with WDR73 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Optic atrophy
  • Spasticity
  • Renal insufficiency
  • Ataxia
  • Microcephaly
  • Not very common - Between 30% and 50% cases

  • Opacification of the corneal stroma
  • Heterotopia
  • Postnatal microcephaly

And 133 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to WDR73 gene

Here you will find a list of rare diseases related to the WDR73. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


GALLOWAY-MOWAT SYNDROME


Alternate names

GALLOWAY-MOWAT SYNDROME Is also known as nephrosis-neuronal dysmigration syndrome, spinocerebellar ataxia, autosomal recessive 5, formerly, microcephaly, hiatal hernia, and nephrotic syndrome, scar5, formerly, galloway syndrome, cerebellar ataxia with mental retardation, optic atrophy, and skin abnor

Description

Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.

Most common symptoms of GALLOWAY-MOWAT SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about GALLOWAY-MOWAT SYNDROME

SOURCES: OMIM ORPHANET

CAMOS SYNDROME


Alternate names

CAMOS SYNDROME Is also known as scar5, cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome

Description

CAMOS syndrome is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.

Most common symptoms of CAMOS SYNDROME

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Ataxia
  • Muscular hypotonia


More info about CAMOS SYNDROME

SOURCES: ORPHANET


Potential gene panels for WDR73 gene

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

WDR73 mutation analysis (Galloway-Mowat syndrome) Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam

This panel specifically test the WDR73 gene.

More info about this panel

Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP TP53RK ACTN4 SCARB2

More info about this panel

Galloway-Mowat Syndrome via WDR73 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the WDR73 gene.

More info about this panel

Nephrotic syndrome and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Nephrotic syndrome and related disorders Comprehensive panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1

More info about this panel

Nephrotic syndrome and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Nephrotic syndrome and related disorders NGS panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1

More info about this panel

Nephrotic syndrome and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Nephrotic syndrome and related disorders Deletion / Duplication panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

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

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

More info about this panel

Focal Segmental Glomerulosclerosis Panel Panel

Germany.

By CeGaT GmbH Focal Segmental Glomerulosclerosis Panel that also includes the following genes: TRPC6 ANLN CD2AP ALDH1A2 ACTN4 CRB2 COQ6 INF2 ARHGAP24 WDR73

More info about this panel

Nephrotic Syndrome Panel Panel

Germany.

By CeGaT GmbH Nephrotic Syndrome Panel that also includes the following genes: SMARCAL1 WT1 NPHS2 PLCE1 COQ8B COQ2 WDR73 DGKE EMP2 ITGA3

More info about this panel

Single gene testing WDR73 Panel

Germany.

By CeGaT GmbH

This panel specifically test the WDR73 gene.

More info about this panel

WDR73 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the WDR73 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

Microcephaly and Pontocerebellar Hypoplasia Panel Panel

Finland.

By Blueprint Genetics Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL PLK4 VRK1 XRCC4 GFM1 CASK PCNT TUBGCP4 STAMBP CENPJ

More info about this panel

Nephrotic Syndrome Panel Panel

Finland.

By Blueprint Genetics Nephrotic Syndrome Panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1

More info about this panel

WDR73 Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the WDR73 gene.

More info about this panel

Yoder Dystonia (WDR73) Targeted Testing Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the WDR73 gene.

More info about this panel

GALLOWAY-MOWAT SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the WDR73 gene.

More info about this panel


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