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.

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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

SOURCES: OMIM ORPHANET MESH

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


Potential gene panels for DRD5 gene

Dystonia Panel

United States.

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 panel

Movement Disorders Panel Panel

United States.

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 panel

Dystonia: Sequencing Panel Panel

United States.

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 panel

Dystonia Dyskinesia NGS Panel Panel

United States.

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 panel

DRD5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DRD5 gene.

More info about this panel


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