CRB2 gene related symptoms and diseases

All the information presented here about the CRB2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CRB2 gene

Symptoms // Phenotype % Cases
Nephrotic syndrome Common - Between 50% and 80% cases
Polydactyly Uncommon - Between 30% and 50% cases
Renal corticomedullary cysts Uncommon - Between 30% and 50% cases
Heterotopia Uncommon - Between 30% and 50% cases
Premature birth Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with CRB2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Renal cyst
  • Postaxial polydactyly
  • Abnormality of the kidney
  • Polyhydramnios
  • Dilatation
  • Glomerulosclerosis
  • Renal insufficiency
  • Hydrocephalus

And 6 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CRB2 gene

Here you will find a list of rare diseases related to the CRB2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9; FSGS9


Alternate names

FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9; FSGS9 Is also known as glomerulosclerosis, focal segmental, 9

Most common symptoms of FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9; FSGS9

  • Nephrotic syndrome
  • Glomerulosclerosis
  • Focal segmental glomerulosclerosis
  • Steroid-resistant nephrotic syndrome


More info about FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9; FSGS9

SOURCES: OMIM

VENTRICULOMEGALY-CYSTIC KIDNEY DISEASE


Alternate names

VENTRICULOMEGALY-CYSTIC KIDNEY DISEASE Is also known as congenital nephrosis-cerebral ventriculomegaly syndrome, vmckd

Description

Ventriculomegaly with cystic kidney disease is a severe autosomal recessive developmental disorder characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts. The pregnancies of affected individuals are associated with increased alpha-fetoprotein (AFP). Most affected pregnancies have been terminated (summary by Slavotinek et al., 2015).See also {602200} for a disorder characterized by ventriculomegaly and defects of the radius and kidney.

Most common symptoms of VENTRICULOMEGALY-CYSTIC KIDNEY DISEASE

  • Seizures
  • Ventricular septal defect
  • Ventriculomegaly
  • Hydrocephalus
  • Renal insufficiency


More info about VENTRICULOMEGALY-CYSTIC KIDNEY DISEASE

SOURCES: ORPHANET OMIM

FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH FOCAL SEGMENTAL HYALINOSIS


Alternate names

FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH FOCAL SEGMENTAL HYALINOSIS Is also known as familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis


More info about FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH FOCAL SEGMENTAL HYALINOSIS

SOURCES: ORPHANET


Potential gene panels for CRB2 gene

Renal Cystic Disorders Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Renal Cystic Disorders Sequencing Panel that also includes the following genes: SALL1 SDCCAG8 HNF1B TFAP2A TSC1 TSC2 CEP41 UMOD VHL ARL6

More info about this panel

Focal glomerulonephrosis (NGS panel for 11 genes) Panel

Portugal.

By CGC Genetics Focal glomerulonephrosis (NGS panel for 11 genes) that also includes the following genes: TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 CRB2 INF2 MYO1E NPHS1

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

Hydrocephalus Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hydrocephalus Sequencing Panel with CNV Detection that also includes the following genes: ZIC3 HDAC6 CCND2 CRB2 CCDC88C FLVCR2 WDR81 DNAI1 EML1 AKT3

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

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

Focal segmental glomerulosclerosis Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Focal segmental glomerulosclerosis that also includes the following genes: CD2AP CRB2

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

Focal segmental glomerulosclerosis type 9 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CRB2 gene.

More info about this panel

Ventriculomegaly with cystic kidney disease Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CRB2 gene.

More info about this panel

Ventriculomegaly with cystic kidney disease Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CRB2 gene.

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

CRB2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CRB2 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

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

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

Ciliopathy Panel Panel

Finland.

By Blueprint Genetics Ciliopathy Panel that also includes the following genes: SDCCAG8 CEP41 CFAP410 USP9X ZIC3 ARL6 NEK8 IFT122 IFT81 TMEM237

More info about this panel

Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Gene Set that also includes the following genes: SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1 CRB2

More info about this panel

Cystic Disease and Nephronopthisis Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Cystic Disease and Nephronopthisis Gene Set that also includes the following genes: SIX5 HNF1B UMOD NEK8 INVS CRB2 NPHP4 BICC1 AHI1 TTC21B

More info about this panel

SYNDROME WITH FOCAL SEGMENTAL GLOMERULOSCLEROSIS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL SYNDROME WITH FOCAL SEGMENTAL GLOMERULOSCLEROSIS NGS PANEL that also includes the following genes: SGPL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 PLCE1 NUP205 CRB2

More info about this panel


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