AGTR1 gene related symptoms and diseases

All the information presented here about the AGTR1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to AGTR1 gene

Symptoms // Phenotype % Cases
Hypotension Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Infra-orbital crease Uncommon - Between 30% and 50% cases
Interrupted aortic arch Uncommon - Between 30% and 50% cases
Proximal tubulopathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with AGTR1 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 41 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to AGTR1 gene

Here you will find a list of rare diseases related to the AGTR1. 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

HYPERTENSION, ESSENTIAL


Alternate names

HYPERTENSION, ESSENTIAL Is also known as eht

Description

The Pickering school held that blood pressure has a continuous distribution, that multiple genes and multiple environmental factors determine the level of one's blood pressure just as the determination of stature and intelligence is multifactorial, and that 'essential hypertension' is merely the upper end of the distribution (Pickering, 1978). In this view the person with essential hypertension is one who happens to inherit an aggregate of genes determining hypertension (and also is exposed to exogenous factors that favor hypertension). The Platt school took the view that essential hypertension is a simple mendelian dominant trait (Platt, 1963). McDonough et al. (1964) defended the monogenic idea. See McKusick (1960) and Kurtz and Spence (1993) for reviews. Swales (1985) reviewed the Platt-Pickering controversy as an 'episode in recent medical history.' The Pickering point of view appears to be more consistent with the observations.

Most common symptoms of HYPERTENSION, ESSENTIAL

  • Hypertension
  • Hypertonia
  • Small for gestational age
  • Hypotension
  • Malnutrition


More info about HYPERTENSION, ESSENTIAL

SOURCES: OMIM


Potential gene panels for AGTR1 gene

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

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 AGTR1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the AGTR1 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

Renal tubular dysgenesis, AGTR1-related Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the AGTR1 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 AGTR1 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

AGTR1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AGTR1 gene.

More info about this panel

Angiotensin II Type 1 Receptor (AGTR1) Gene 1166A>C Polymorphism Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the AGTR1 gene.

More info about this panel

Angiotensin II Type 1 Receptor (AGTR1) Gene 1166A>C Polymorphism (NY) Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the AGTR1 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

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

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

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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