AVPR2 gene related symptoms and diseases
All the information presented here about the AVPR2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to AVPR2 gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Common - Between 50% and 80% cases |
Irritability | Common - Between 50% and 80% cases |
Edema | Uncommon - Between 30% and 50% cases |
Hyposthenuria | Uncommon - Between 30% and 50% cases |
Megacystis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with AVPR2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Hypernatremia
- Unexplained fevers
- Functional abnormality of the bladder
- Hypernatremic dehydration
- Hypertonic dehydration
- Pain
- Hypertension
- Intellectual disability
And 36 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to AVPR2 gene
Here you will find a list of rare diseases related to the AVPR2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NEPHROGENIC DIABETES INSIPIDUS
Alternate names
NEPHROGENIC DIABETES INSIPIDUS Is also known as ndi, diabetes insipidus, nephrogenic, type i
Description
Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children.
Most common symptoms of NEPHROGENIC DIABETES INSIPIDUS
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Growth delay
More info about NEPHROGENIC DIABETES INSIPIDUS
NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS
Alternate names
NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS Is also known as nsiad
Description
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels.
More info about NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS
SOURCES: ORPHANET
NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS; NSIAD
Description
The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is a common cause of hyponatremia. The syndrome manifests as an inability to excrete a free water load, with inappropriately concentrated urine and resultant hyponatremia, hypoosmolality, and natriuresis. SIADH occurs in a setting of normal blood volume, without evidence of renal disease or deficiency of thyroxine or cortisol. Although usually transient, SIADH may be chronic; it is often associated with drug use or a lesion in the central nervous system or lung. When the cardinal features of SIADH were defined by Bartter and Schwartz (1967), levels of AVP could not be measured. Subsequently, radioimmunoassays revealed that SIADH is usually associated with measurably elevated serum levels of AVP. Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is characterized by a clinical picture similar to SIADH, but is associated with undetectable levels of AVP (Feldman et al., 2005).
Most common symptoms of NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS; NSIAD
- Seizures
- Pain
- Hypertension
- Edema
- Hypoglycemia
More info about NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS; NSIAD
Search interest in AVPR2
Potential gene panels for AVPR2 gene
Nephrogenic Diabetes Insipidus (AVPR2) DNA Sequencing Test Panel
By Athena Diagnostics Inc
This panel specifically test the AVPR2 gene.
More info about this panelNephrogenic Diabetes Insipidus Evaluation Panel
By Athena Diagnostics Inc Nephrogenic Diabetes Insipidus Evaluation that also includes the following genes: AQP2 AVPR2
More info about this panelAVPR2 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the AVPR2 gene.
More info about this panelExomePLUS Electrolyte & Kidney Stone Panel
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine ExomePLUS Electrolyte & Kidney Stone that also includes the following genes: SCNN1A SCNN1B SLC12A1 SLC12A3 SLC2A2 VDR WNK4 CASR BSND CDC73
More info about this panelAVPR2. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the AVPR2 gene.
More info about this panelDiabetes insipidus, nephrogenic X-linked (sequence analysis of AVPR2 gene) Panel
By CGC Genetics
This panel specifically test the AVPR2 gene.
More info about this panelNephrogenic diabetes insipidus, x-linked Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the AVPR2 gene.
More info about this panelNeurohypophyseal Diabetes Insipidus and Nephrogenic Diabetes Insipidus Sequencing Panel Panel
By PreventionGenetics PreventionGenetics Neurohypophyseal Diabetes Insipidus and Nephrogenic Diabetes Insipidus Sequencing Panel that also includes the following genes: AQP2 AVP AVPR2
More info about this panelNephrogenic Diabetes Insipidus (NDI) and Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD) via AVPR2 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the AVPR2 gene.
More info about this panelDiabetes insipidus renalis Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Diabetes insipidus renalis that also includes the following genes: AQP2 AVPR2
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 panelNephrogenic Diabetes Insipidus, X-Linked Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the AVPR2 gene.
More info about this panelAVPR2 Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the AVPR2 gene.
More info about this panelNephrogenic syndrome of inapproriate antidiuresis Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the AVPR2 gene.
More info about this panelDiabetes insipidus nephrogenic X-Linked Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the AVPR2 gene.
More info about this panelDiabetes insipidus, nephrogenic Panel Panel
By CeGaT GmbH Diabetes insipidus, nephrogenic Panel that also includes the following genes: AQP2 AVP AVPR2
More info about this panelDiabetes insipidus, nephrogenic (AVPR2) Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the AVPR2 gene.
More info about this panelDiabetes insipidus, nephrogenic, X-linked: AVPR2 gene sequence analysis (exons 2-3) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the AVPR2 gene.
More info about this panelIntellectual Disability NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panelAVPR2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the AVPR2 gene.
More info about this panelX-chromosome High Resolution microarray analysis Panel
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
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 panelDiabetes Insipidus Panel Panel
By Blueprint Genetics Diabetes Insipidus Panel that also includes the following genes: AQP2 AVP AVPR2
More info about this panelX-linked nephrogenic diabetes insipidus Panel
By Bioarray
This panel specifically test the AVPR2 gene.
More info about this panelNephrogenic Diabetes Insipidus NGS and Deletion/Duplication Panel Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Nephrogenic Diabetes Insipidus NGS and Deletion/Duplication Panel that also includes the following genes: AQP2 AVPR2
More info about this panelAVPR2 Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the AVPR2 gene.
More info about this panelDIABETES INSIPIDUS, NEPHROGENIC (X-LINKED) Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the AVPR2 gene.
More info about this panelX-Linked Nephrogenic Diabetes Insipidus , Sequencing AVPR2 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the AVPR2 gene.
More info about this panelX-Linked Nephrogenic Diabetes Insipidus , Sequencing Exons (2-3) AVPR2 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the AVPR2 gene.
More info about this panelNephrogenic Diabetes Insipidus , Panel Massive Sequencing (NGS) AQP2, AVPR2 Genes Panel
By Reference Laboratory Genetics Nephrogenic Diabetes Insipidus , Panel Massive Sequencing (NGS) AQP2, AVPR2 Genes that also includes the following genes: AQP2 AVPR2
More info about this panelNephrogenic diabetes insipidus, X-linked Panel
By Labor Dr. Wisplinghoff
This panel specifically test the AVPR2 gene.
More info about this panelNephrogenic Diabetes Insipidus: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Nephrogenic Diabetes Insipidus: gene sequencing panel that also includes the following genes: AQP2 AVPR2
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