DBH gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to DBH gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Dehydration Very Common - Between 80% and 100% cases
Intermittent hypothermia Very Common - Between 80% and 100% cases
Nocturia Very Common - Between 80% and 100% cases
Multiple myeloma Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Recurrent hypoglycemia
  • Hypothermia
  • Neonatal hypoglycemia
  • Amyloidosis
  • Orthostatic hypotension
  • Blurred vision
  • Epiphora
  • Abnormal autonomic nervous system physiology

And 15 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DBH gene

Here you will find a list of rare diseases related to the DBH. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


DOPAMINE BETA-HYDROXYLASE DEFICIENCY


Alternate names

DOPAMINE BETA-HYDROXYLASE DEFICIENCY Is also known as norepinephrine deficiency, noradrenaline deficiency

Description

Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension.

Most common symptoms of DOPAMINE BETA-HYDROXYLASE DEFICIENCY

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Pain
  • Ptosis


More info about DOPAMINE BETA-HYDROXYLASE DEFICIENCY

SOURCES: ORPHANET MESH OMIM


Potential gene panels for DBH gene

Test for Dopamine Beta-Hydroxylase Deficiency Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the DBH gene.

More info about this panel

Dopamine beta-hydroxylase deficiency (sequence analysis of DBH gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the DBH gene.

More info about this panel

DBH Sequence Analysis Panel

Netherlands.

By Translational Metabolic Laboratory Radboud University Medical Centre

This panel specifically test the DBH gene.

More info about this panel

Dopamine beta-hydroxylase (DBH) deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the DBH gene.

More info about this panel

Invitae Neurotransmitter Disorders Panel Panel

United States.

By Invitae Invitae Neurotransmitter Disorders Panel that also includes the following genes: SLC6A3 SLC6A5 SPR TH ARHGEF9 GPHN PSAT1 SLC25A22 ABAT DBH

More info about this panel

DBH Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DBH gene.

More info about this panel

Cardiomyopathy Panel Panel

Finland.

By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB

More info about this panel

Arrhythmia Panel Panel

Finland.

By Blueprint Genetics Arrhythmia Panel that also includes the following genes: RYR2 SCN10A SCN1B SCN5A TBX5 TGFB3 TNNI3 TNNT2 TRDN TTN

More info about this panel

Comprehensive Cardiology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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