DBH-AS1 gene related symptoms and diseases
All the information presented here about the DBH-AS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DBH-AS1 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-AS1 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-AS1 gene
Here you will find a list of rare diseases related to the DBH-AS1. 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-AS1
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MEOX1 SPTLC2 MYH9 CCND2 TMPRSS3 HIST1H1E BOC