AQP2 gene related symptoms and diseases

All the information presented here about the AQP2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to AQP2 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Feeding difficulties in infancy Very Common - Between 80% and 100% cases
Unexplained fevers Very Common - Between 80% and 100% cases
Hypernatremia Very Common - Between 80% and 100% cases
Megacystis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with AQP2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Nephrogenic diabetes insipidus
  • Diabetes insipidus
  • Polyuria
  • Polydipsia
  • Seizures
  • Dehydration
  • Irritability
  • Hypertonic dehydration

And 21 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to AQP2 gene

Here you will find a list of rare diseases related to the AQP2. 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

DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL


Alternate names

DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL Is also known as diabetes insipidus, nephrogenic, type ii

Description

Nephrogenic diabetes insipidus is caused by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone (ADH), also known as arginine vasopressin (AVP ). Approximately 90% of patients are males with the X-linked recessive form, type I (OMIM ), which is caused by mutation in the gene encoding the vasopressin V2 receptor (AVPR2 ). The remaining 10% of patients have the autosomal form, type II, caused by mutation in the AQP2 gene (Morello and Bichet, 2001).Neurogenic, or central, diabetes insipidus (CDI ) is caused by mutation in the gene encoding arginine vasopressin, located on 20p13.

Most common symptoms of DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Feeding difficulties


More info about DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL

SOURCES: OMIM


Potential gene panels for AQP2 gene

AQP2 (Nephrogenic Diabetes Insipidus) DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the AQP2 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

AQP2 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the AQP2 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

AQP2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the AQP2 gene.

More info about this panel

Nephrogenic diabetes insipidus (sequence analysis of AQP2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the AQP2 gene.

More info about this panel

Nephrogenic diabetes insipidus, autosomal Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the AQP2 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) via AQP2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the AQP2 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

Diabetes insipidus, nephrogenic Panel

Germany.

By Bioscientia GmbH Center for Human Genetics Diabetes insipidus, nephrogenic that also includes the following genes: AQP2 AVP

More info about this panel

AQP2 Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the AQP2 gene.

More info about this panel

Diabetes insipidus, nephrogenic, autosomal Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the AQP2 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

Single gene testing AQP2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the AQP2 gene.

More info about this panel

AQP2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AQP2 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

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

Autosomal nephrogenic diabetes insipidus Panel

Spain.

By Bioarray

This panel specifically test the AQP2 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

AQP2 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 AQP2 gene.

More info about this panel

DIABETES INSIPIDUS, NEPHROGENIC (AUTOSOMAL RECESSIVE) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the AQP2 gene.

More info about this panel

Autosomal Nephrogenic Diabetes Insipidus , Sequencing AQP2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the AQP2 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, autosomal Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the AQP2 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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