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.

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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


More info about HEREDITARY CENTRAL DIABETES INSIPIDUS

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


More info about DIABETES INSIPIDUS, NEUROHYPOPHYSEAL

SOURCES: OMIM


Potential gene panels for AVP gene

AVP Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the AVP 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

AVP. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the AVP gene.

More info about this panel

Diabetes insipidus, primary central (sequence analysis of AVP gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the AVP gene.

More info about this panel

Neurohypophyseal diabetes insipidus Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the AVP gene.

More info about this panel

Central diabetes insipidus Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the AVP 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

Neurohypophyseal Diabetes Insipidus (NDI) via AVP Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the AVP gene.

More info about this panel

Neurohypophyseal Diabetes Insipidus Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the AVP gene.

More info about this panel

Nephrogenic Diabetes Insipidus, Autosomal Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the AVP gene.

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

AVP Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the AVP gene.

More info about this panel

Diabetes insipidus, neurohypophyseal Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the AVP 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

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

AVP Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AVP gene.

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

DIABETES INSIPIDUS, NEUROHYPOPHYSEAL Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the AVP gene.

More info about this panel

Neurohypophyseal Diabetes Insipidus, Sequencing AVP Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the AVP gene.

More info about this panel


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