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.
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
Search interest in DBH
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 Netherlands.
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 Portugal.
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 Netherlands.
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 Germany.
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 United States.
DBH Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DBH gene.
More info about this panel United States.
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 Finland.
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 Finland.
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 Finland.
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 United States.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NUDT15 NOS3 KRT1