DRD5 gene related symptoms and diseases
All the information presented here about the DRD5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DRD5 gene
Symptoms // Phenotype | % Cases |
---|---|
Tremor | Uncommon - Between 30% and 50% cases |
Focal dystonia | Uncommon - Between 30% and 50% cases |
Impulsivity | Uncommon - Between 30% and 50% cases |
Falls | Uncommon - Between 30% and 50% cases |
Attention deficit hyperactivity disorder | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with DRD5 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Anxiety
- Autism
- Hyperactivity
- Depressivity
- Oromandibular dystonia
- Keratoconjunctivitis
- Blepharospasm
- Fatigue
And 10 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DRD5 gene
Here you will find a list of rare diseases related to the DRD5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO
Description
Blepharospasm is a form of primary focal dystonia affecting the orbicularis oculi muscles, usually beginning in middle age. Initial symptoms include eye irritation and frequent blinking, progressing to involuntary spasms of eyelid closure. In severe cases, this can lead to functional blindness (summary by Misbahuddin et al., 2002).
Most common symptoms of BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO
- Tremor
- Fatigue
- Blindness
- Dystonia
- Involuntary movements
More info about BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO
ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD
Alternate names
ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD Is also known as hyperactivity of childhood
Description
A behavior disorder in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity.
Most common symptoms of ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD
- Depressivity
- Hyperactivity
- Autism
- Anxiety
- Attention deficit hyperactivity disorder
More info about ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD
SOURCES: OMIM
Search interest in DRD5
Potential gene panels for DRD5 gene
Dystonia Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dystonia that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
More info about this panelMovement Disorders Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Movement Disorders Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SNCA SPR SQSTM1 SUCLA2 SUOX
More info about this panelDystonia: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dystonia: Sequencing Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
More info about this panelDystonia Dyskinesia NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Dystonia Dyskinesia NGS Panel that also includes the following genes: SCP2 SGCE SLC6A3 SPR TAF1 THAP1 DRD2 DRD5 PRRT2 TOR1A
More info about this panelDRD5 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DRD5 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NARS2 CACNA1F HSD3B1 SHOX KMT2B GNS SATB2