PTPRO gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to PTPRO gene

Symptoms // Phenotype % Cases
Edema Rare - less than 30% cases
Proteinuria Rare - less than 30% cases
Abnormality of the kidney Rare - less than 30% cases
Stage 5 chronic kidney disease Rare - less than 30% cases
Nephrotic syndrome Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with PTPRO gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Hypoalbuminemia
  • Glomerulosclerosis
  • Focal segmental glomerulosclerosis
  • Tubular atrophy
  • Tubulointerstitial fibrosis
  • Minimal change glomerulonephritis
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Rare diseases associated to PTPRO gene

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


NEPHROTIC SYNDROME, TYPE 6; NPHS6


Description

The nephrotic syndrome refers to a genetically heterogeneous group of disorders characterized by proteinuria, hypoalbuminemia, and edema, resulting in end-stage kidney disease if untreated. Inherited defects in podocyte structure and function have been observed in some children with the steroid-resistant subtype of nephrotic syndrome (summary by Ozaltin et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (OMIM ).

Most common symptoms of NEPHROTIC SYNDROME, TYPE 6; NPHS6

  • Edema
  • Proteinuria
  • Abnormality of the kidney
  • Stage 5 chronic kidney disease
  • Nephrotic syndrome


More info about NEPHROTIC SYNDROME, TYPE 6; NPHS6

SOURCES: 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

FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH DIFFUSE MESANGIAL PROLIFERATION



More info about FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH DIFFUSE MESANGIAL PROLIFERATION

SOURCES: ORPHANET

FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH MINIMAL CHANGES



More info about FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH MINIMAL CHANGES

SOURCES: ORPHANET

FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH DIFFUSE MESANGIAL SCLEROSIS



More info about FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH DIFFUSE MESANGIAL SCLEROSIS

SOURCES: ORPHANET


Potential gene panels for PTPRO gene

Nephrotic syndrome (NGS panel for 11 genes) Panel

Portugal.

By CGC Genetics Nephrotic syndrome (NGS panel for 11 genes) that also includes the following genes: WT1 NPHS2 ACTN4 PLCE1 COQ8B DGKE EMP2 LAMB2 ARHGDIA NPHS1

More info about this panel

Nephrotic syndrome, type 6 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the PTPRO 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

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

Nephrotic syndrome 6 Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the PTPRO gene.

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

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

NEPHROTIC SYNDROME Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases NEPHROTIC SYNDROME that also includes the following genes: STS TRPC6 WT1 NPHS2 CD2AP PLCE1 COQ6 INF2 ITGA3 LAMB2

More info about this panel

PTPRO Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PTPRO 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

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

FoundationOneĀ® Heme Panel

United States.

By Foundation Medicine, Inc. FoundationOneĀ® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1

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

NEPHROTIC SYNDROME WITH DIFFUSE MESANGIAL SCLEROSIS Panel

Spain.

By Laboratorio de Genetica Clinica SL NEPHROTIC SYNDROME WITH DIFFUSE MESANGIAL SCLEROSIS that also includes the following genes: WT1 PLCE1 PTPRO

More info about this panel

Congenital Nephrotic Syndrome , Panel Massive Sequencing (NGS) 13 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Nephrotic Syndrome , Panel Massive Sequencing (NGS) 13 Genes that also includes the following genes: TRPC6 WT1 NPHS2 CD2AP PLCE1 COQ6 INF2 ITGA3 LAMB2 ARHGDIA

More info about this panel


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