AVP gene related symptoms and diseases
All the information presented here about the AVP 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 AVP gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Growth delay | Very Common - Between 80% and 100% cases |
| Vomiting | Very Common - Between 80% and 100% cases |
| Weight loss | Very Common - Between 80% and 100% cases |
| Irritability | Very Common - Between 80% and 100% cases |
| Lethargy | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with AVP gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Polydipsia
- Diabetes insipidus
- Fever
Not very common - Between 30% and 50% cases
- Polyuria
- Gliosis
- Syncope
- Growth hormone deficiency
- Hypotension
And 29 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to AVP gene
Here you will find a list of rare diseases related to the AVP. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HEREDITARY CENTRAL DIABETES INSIPIDUS
Alternate names
HEREDITARY CENTRAL DIABETES INSIPIDUS Is also known as hereditary cdi, hereditary neurogenic diabetes insipidus
Description
Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.
Most common symptoms of HEREDITARY CENTRAL DIABETES INSIPIDUS
- Growth delay
- Fever
- Vomiting
- Diarrhea
- Weight loss
SOURCES: ORPHANET
DIABETES INSIPIDUS, NEUROHYPOPHYSEAL
Alternate names
DIABETES INSIPIDUS, NEUROHYPOPHYSEAL Is also known as diabetes insipidus, cranial type, diabetes insipidus, primary central, cdi
Description
Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopression deficiency during childhood (summary by Wahlstrom et al., 2004).
Most common symptoms of DIABETES INSIPIDUS, NEUROHYPOPHYSEAL
- Intellectual disability
- Seizures
- Growth delay
- Hypertelorism
- Neoplasm
SOURCES: OMIM
Search interest in AVP
Potential gene panels for AVP gene
AVP Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the AVP 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 panelAVP. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the AVP gene.
More info about this panelDiabetes insipidus, primary central (sequence analysis of AVP gene) Panel
By CGC Genetics
This panel specifically test the AVP gene.
More info about this panelNeurohypophyseal diabetes insipidus Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the AVP gene.
More info about this panelCentral diabetes insipidus Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the AVP 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 panelNeurohypophyseal Diabetes Insipidus (NDI) via AVP Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the AVP gene.
More info about this panelNeurohypophyseal Diabetes Insipidus Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the AVP gene.
More info about this panelNephrogenic Diabetes Insipidus, Autosomal Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the AVP gene.
More info about this panelDiabetes insipidus, nephrogenic Panel
By Bioscientia GmbH Center for Human Genetics Diabetes insipidus, nephrogenic that also includes the following genes: AQP2 AVP
More info about this panelAVP Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the AVP gene.
More info about this panelDiabetes insipidus, neurohypophyseal Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the AVP 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 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 panelAVP Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the AVP gene.
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 panelDIABETES INSIPIDUS, NEUROHYPOPHYSEAL Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the AVP gene.
More info about this panelNeurohypophyseal Diabetes Insipidus, Sequencing AVP Gene Panel
By Reference Laboratory Genetics
This panel specifically test the AVP gene.
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