REN gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to REN gene

Symptoms // Phenotype % Cases
Renal insufficiency Common - Between 50% and 80% cases
Nephropathy Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Vascular ring Uncommon - Between 30% and 50% cases
Proximal tubulopathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

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

  • Decreased circulating renin level
  • Right aortic arch
  • Accessory spleen
  • Widely patent fontanelles and sutures
  • Absent gallbladder
  • Anuria
  • Aplasia of the thymus
  • Potter facies

And 42 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to REN gene

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


RENAL TUBULAR DYSGENESIS OF GENETIC ORIGIN



More info about RENAL TUBULAR DYSGENESIS OF GENETIC ORIGIN

SOURCES: ORPHANET

RENAL TUBULAR DYSGENESIS; RTD


Alternate names

RENAL TUBULAR DYSGENESIS; RTD Is also known as primitive renal tubule syndrome

Description

Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype) (Gribouval et al., 2005). Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects.

Most common symptoms of RENAL TUBULAR DYSGENESIS; RTD

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Ventricular septal defect
  • Respiratory insufficiency


More info about RENAL TUBULAR DYSGENESIS; RTD

SOURCES: OMIM ORPHANET

REN-RELATED AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE


Alternate names

REN-RELATED AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE Is also known as early-onset hyperuricemia, anemia, and progressive kidney failure, ren-associated fjhn, ren-associated kidney disease, familial juvenile hyperuricemic nephropathy type 2, ren-associated familial juvenile hyperuricemic nephropathy, adtkd-ren, fjhn type 2

Description

Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS).

Most common symptoms of REN-RELATED AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE

  • Anemia
  • Renal insufficiency
  • Stage 5 chronic kidney disease
  • Nephropathy
  • Renal cyst


More info about REN-RELATED AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE

SOURCES: OMIM MESH ORPHANET


Potential gene panels for REN 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

ExomePLUS Cystic Disease & Dysplasia/Agenesis Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine ExomePLUS Cystic Disease & Dysplasia/Agenesis that also includes the following genes: BMP4 HNF1B TSC1 TSC2 UMOD WT1 INVS NPHP4 FRAS1 ANKS6

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

Renal tubular dysgenesis (sequence analysis of REN gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the REN gene.

More info about this panel

Familial juvenile hyperuricemic nephropathy (sequence analysis of REN gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the REN gene.

More info about this panel

Familial juvenile hyperuricemic nephropathy (sequence analysis of REN gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the REN gene.

More info about this panel

Hyperuricemic nephropathy, familial juvenile, 2 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the REN gene.

More info about this panel

Test for Renal Tubular Dysgenesis, REN-Related Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the REN gene.

More info about this panel

Renal tubular dysgenesis Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Renal tubular dysgenesis that also includes the following genes: AGTR1 REN

More info about this panel

Benign hyperproreninemia Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the REN gene.

More info about this panel

Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection that also includes the following genes: ROBO2 SALL1 BMP4 BMP7 SIX1 SIX2 SIX5 SOX11 TBX18 HNF1B

More info about this panel

Autosomal Recessive Renal Tubular Dysgenesis (RTD) via REN Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the REN gene.

More info about this panel

Autosomal Recessive Renal Tubular Dysgenesis (RTD) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Autosomal Recessive Renal Tubular Dysgenesis (RTD) Sequencing Panel with CNV Detection that also includes the following genes: AGTR1 REN

More info about this panel

Renal tubular dysgenesis Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Renal tubular dysgenesis Deletion / Duplication panel that also includes the following genes: AGTR1 REN

More info about this panel

Renal tubular dysgenesis Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Renal tubular dysgenesis Comprehensive panel that also includes the following genes: AGTR1 REN

More info about this panel

Renal tubular dysgenesis NGS panel Panel

United States.

By Connective Tissue Gene Tests Renal tubular dysgenesis NGS panel that also includes the following genes: AGTR1 REN

More info about this panel

Hyperuricemic nephropathy, familial juvenile Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Hyperuricemic nephropathy, familial juvenile Deletion / Duplication panel that also includes the following genes: UMOD SEC61A1 REN

More info about this panel

Hyperuricemic nephropathy, familial juvenile Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Hyperuricemic nephropathy, familial juvenile Deletion / Duplication panel that also includes the following genes: UMOD SEC61A1 REN

More info about this panel

Hyperuricemic nephropathy, familial juvenile NGS panel Panel

United States.

By Connective Tissue Gene Tests Hyperuricemic nephropathy, familial juvenile NGS panel that also includes the following genes: UMOD SEC61A1 REN

More info about this panel

Familial juvenile hyperuricemic nephropathy type 2 Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the REN gene.

More info about this panel

Renal tubular dysgenesis, REN-related Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the REN 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

Renal tubular dysgenesis Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the REN gene.

More info about this panel

Renal Tubular Dysgenesis Panel Panel

Germany.

By CeGaT GmbH Renal Tubular Dysgenesis Panel that also includes the following genes: AGTR1 REN

More info about this panel

REN Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the REN gene.

More info about this panel

Renal Malformation Panel Panel

Finland.

By Blueprint Genetics Renal Malformation Panel that also includes the following genes: ROBO2 SALL1 BMP4 SIX1 SIX5 HNF1B WT1 ACTG2 FREM1 FREM2

More info about this panel

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel

Anemia Panel Panel

Finland.

By Blueprint Genetics Anemia Panel that also includes the following genes: RHAG RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29

More info about this panel

Purine and Pyrimidine Metabolism Disorders Panel Panel

Finland.

By Blueprint Genetics Purine and Pyrimidine Metabolism Disorders Panel that also includes the following genes: TPMT UMOD UMPS XDH GPHN UPB1 NT5C3A MOCOS ADA DHODH

More info about this panel

Study of Molecular Markers Of Essential Hypertension and Associated Cardiovascular Events (37 genes - 57 genetic variants) Panel

Portugal.

By HeartGenetics, Genetics and Biotechnology, SA Study of Molecular Markers Of Essential Hypertension and Associated Cardiovascular Events (37 genes - 57 genetic variants) that also includes the following genes: SCNN1A SCNN1B SLC12A3 CALCA WNK1 STK39 CLCNKA CLCNKB ADD1 ADRA1A

More info about this panel

HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE TYPE2 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the REN gene.

More info about this panel

RENAL TUBULAR DYSGENESIS Panel

Spain.

By Laboratorio de Genetica Clinica SL RENAL TUBULAR DYSGENESIS that also includes the following genes: AGTR1 REN

More info about this panel

CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT (CAKUT) NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT (CAKUT) NGS PANEL that also includes the following genes: ROBO2 SALL1 BMP4 BMP7 SIX1 SIX2 SIX5 HNF1B UMOD UPK3A

More info about this panel

Familial Juvenile Hyperuricemic Nephropathy Type 2 , Sequencing REN Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the REN gene.

More info about this panel

Renal Tubular Dysgenesis , Panel Massive Sequencing (NGS) ACE, AGT, AGTR1, REN Genes Panel

Spain.

By Reference Laboratory Genetics Renal Tubular Dysgenesis , Panel Massive Sequencing (NGS) ACE, AGT, AGTR1, REN Genes that also includes the following genes: AGTR1 REN

More info about this panel


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