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.

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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

SOURCES: OMIM ORPHANET

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

SOURCES: OMIM ORPHANET MESH


Potential gene panels for AVPR2 gene

Nephrogenic Diabetes Insipidus (AVPR2) DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the AVPR2 gene.

More info about this panel

Nephrogenic Diabetes Insipidus Evaluation Panel

United States.

By Athena Diagnostics Inc Nephrogenic Diabetes Insipidus Evaluation that also includes the following genes: AQP2 AVPR2

More info about this panel

AVPR2 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the AVPR2 gene.

More info about this panel

ExomePLUS Electrolyte & Kidney Stone Panel

United States.

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 panel

AVPR2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the AVPR2 gene.

More info about this panel

Diabetes insipidus, nephrogenic X-linked (sequence analysis of AVPR2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the AVPR2 gene.

More info about this panel

Nephrogenic diabetes insipidus, x-linked Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the AVPR2 gene.

More info about this panel

Neurohypophyseal Diabetes Insipidus and Nephrogenic Diabetes Insipidus Sequencing Panel Panel

United States.

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 panel

Nephrogenic Diabetes Insipidus (NDI) and Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD) via AVPR2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the AVPR2 gene.

More info about this panel

Diabetes insipidus renalis Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Diabetes insipidus renalis that also includes the following genes: AQP2 AVPR2

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

Nephrogenic Diabetes Insipidus, X-Linked Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the AVPR2 gene.

More info about this panel

AVPR2 Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the AVPR2 gene.

More info about this panel

Nephrogenic syndrome of inapproriate antidiuresis Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the AVPR2 gene.

More info about this panel

Diabetes insipidus nephrogenic X-Linked Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the AVPR2 gene.

More info about this panel

Diabetes insipidus, nephrogenic Panel Panel

Germany.

By CeGaT GmbH Diabetes insipidus, nephrogenic Panel that also includes the following genes: AQP2 AVP AVPR2

More info about this panel

Diabetes insipidus, nephrogenic (AVPR2) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the AVPR2 gene.

More info about this panel

Diabetes insipidus, nephrogenic, X-linked: AVPR2 gene sequence analysis (exons 2-3) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the AVPR2 gene.

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

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 panel

AVPR2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AVPR2 gene.

More info about this panel

X-chromosome High Resolution microarray analysis Panel

United States.

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 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

Diabetes Insipidus Panel Panel

Finland.

By Blueprint Genetics Diabetes Insipidus Panel that also includes the following genes: AQP2 AVP AVPR2

More info about this panel

X-linked nephrogenic diabetes insipidus Panel

Spain.

By Bioarray

This panel specifically test the AVPR2 gene.

More info about this panel

Nephrogenic Diabetes Insipidus NGS and Deletion/Duplication Panel Panel

United States.

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 panel

AVPR2 Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the AVPR2 gene.

More info about this panel

DIABETES INSIPIDUS, NEPHROGENIC (X-LINKED) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the AVPR2 gene.

More info about this panel

X-Linked Nephrogenic Diabetes Insipidus , Sequencing AVPR2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the AVPR2 gene.

More info about this panel

X-Linked Nephrogenic Diabetes Insipidus , Sequencing Exons (2-3) AVPR2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the AVPR2 gene.

More info about this panel

Nephrogenic Diabetes Insipidus , Panel Massive Sequencing (NGS) AQP2, AVPR2 Genes Panel

Spain.

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 panel

Nephrogenic diabetes insipidus, X-linked Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the AVPR2 gene.

More info about this panel

Nephrogenic Diabetes Insipidus: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Nephrogenic Diabetes Insipidus: gene sequencing panel that also includes the following genes: AQP2 AVPR2

More info about this panel


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