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.
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
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
Search interest in AQP2
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 United States.
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 United States.
AQP2 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the AQP2 gene.
More info about this panel Germany.
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 United States.
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 Spain.
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 Portugal.
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 Germany.
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 United States.
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 United States.
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 Germany.
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 Germany.
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 Germany.
AQP2 Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the AQP2 gene.
More info about this panel Netherlands.
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 Germany.
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 Germany.
Single gene testing AQP2 Panel
Germany.
By CeGaT GmbH
This panel specifically test the AQP2 gene.
More info about this panel Germany.
AQP2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the AQP2 gene.
More info about this panel United States.
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 United States.
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 Finland.
Autosomal nephrogenic diabetes insipidus Panel
Spain.
By Bioarray
This panel specifically test the AQP2 gene.
More info about this panel Spain.
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 United States.
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 United States.
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 Spain.
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 Spain.
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 Spain.
Nephrogenic diabetes insipidus, autosomal Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the AQP2 gene.
More info about this panel Germany.
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 Canada.
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