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.
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
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
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
Search interest in AGTR1
Potential gene panels for AGTR1 gene
Renal tubular dysgenesis Panel
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 panelCongenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection Panel
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 panelAutosomal Recessive Renal Tubular Dysgenesis (RTD) via AGTR1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the AGTR1 gene.
More info about this panelAutosomal Recessive Renal Tubular Dysgenesis (RTD) Sequencing Panel with CNV Detection Panel
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 panelRenal tubular dysgenesis Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Renal tubular dysgenesis Deletion / Duplication panel that also includes the following genes: AGTR1 REN
More info about this panelRenal tubular dysgenesis Comprehensive panel Panel
By Connective Tissue Gene Tests Renal tubular dysgenesis Comprehensive panel that also includes the following genes: AGTR1 REN
More info about this panelRenal tubular dysgenesis NGS panel Panel
By Connective Tissue Gene Tests Renal tubular dysgenesis NGS panel that also includes the following genes: AGTR1 REN
More info about this panelRenal tubular dysgenesis, AGTR1-related Panel
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the AGTR1 gene.
More info about this panelHereditary kidney disorders - different panels Panel
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 panelNephrology Endocrinology and Electrolytes - panels Panel
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 panelRenal tubular dysgenesis Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the AGTR1 gene.
More info about this panelRenal Tubular Dysgenesis Panel Panel
By CeGaT GmbH Renal Tubular Dysgenesis Panel that also includes the following genes: AGTR1 REN
More info about this panelAGTR1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the AGTR1 gene.
More info about this panelAngiotensin II Type 1 Receptor (AGTR1) Gene 1166A>C Polymorphism Panel
By Quest Diagnostics Nichols Institute San Juan Capistrano
This panel specifically test the AGTR1 gene.
More info about this panelAngiotensin II Type 1 Receptor (AGTR1) Gene 1166A>C Polymorphism (NY) Panel
By Quest Diagnostics Nichols Institute San Juan Capistrano
This panel specifically test the AGTR1 gene.
More info about this panelKidneySeq - 264 Genes Panel
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 panelStudy of Molecular Markers Of Essential Hypertension and Associated Cardiovascular Events (37 genes - 57 genetic variants) Panel
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 panelRENAL TUBULAR DYSGENESIS Panel
By Laboratorio de Genetica Clinica SL RENAL TUBULAR DYSGENESIS that also includes the following genes: AGTR1 REN
More info about this panelCONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT (CAKUT) NGS PANEL Panel
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 panelRenal Tubular Dysgenesis , Panel Massive Sequencing (NGS) ACE, AGT, AGTR1, REN Genes Panel
By Reference Laboratory Genetics Renal Tubular Dysgenesis , Panel Massive Sequencing (NGS) ACE, AGT, AGTR1, REN Genes that also includes the following genes: AGTR1 REN
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