DRD3 gene related symptoms and diseases

All the information presented here about the DRD3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to DRD3 gene

Symptoms // Phenotype % Cases
Anxiety Very Common - Between 80% and 100% cases
Depressivity Very Common - Between 80% and 100% cases
Behavioral abnormality Common - Between 50% and 80% cases
Migraine Common - Between 50% and 80% cases
Abnormality of extrapyramidal motor function Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with DRD3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Rigidity
  • Abnormality of movement
  • Autism
  • Dementia
  • Not very common - Between 30% and 50% cases

  • Mental deterioration
  • Parkinsonism
  • Memory impairment
  • Small for gestational age

And 70 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DRD3 gene

Here you will find a list of rare diseases related to the DRD3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


GILLES DE LA TOURETTE SYNDROME; GTS


Alternate names

GILLES DE LA TOURETTE SYNDROME; GTS Is also known as ts, tourette syndrome, tourette disorder

Description

Tourette syndrome is a neurobehavioral disorder manifest particularly by motor and vocal tics and associated with behavioral abnormalities. Tics are sudden, brief, intermittent, involuntary or semi-voluntary movements (motor tics) or sounds (phonic or vocal tics). They typically consist of simple, coordinated, repetitive movements, gestures, or utterances that mimic fragments of normal behavior. Motor tics may range from simple blinking, nose twitching, and head jerking to more complex throwing, hitting, or making rude gestures. Phonic tics include sniffling, throat clearing, blowing, coughing, echolalia, or coprolalia. Males are affected about 3 times more often than females, and onset usually occurs between 3 and 8 years of age. By age 18 years, more than half of affected individuals are free of tics, but they may persist into adulthood (review by Jankovic, 2001).

Most common symptoms of GILLES DE LA TOURETTE SYNDROME; GTS

  • Behavioral abnormality
  • Depressivity
  • Pectus excavatum
  • Myoclonus
  • Hyperactivity


More info about GILLES DE LA TOURETTE SYNDROME; GTS

SOURCES: MESH OMIM

TREMOR, HEREDITARY ESSENTIAL, 1; ETM1


Alternate names

TREMOR, HEREDITARY ESSENTIAL, 1; ETM1 Is also known as fet1, tremor, familial essential, 1

Description

Essential tremor may be the most common human movement disorder. The main feature of essential tremor is postural tremor of the arms, but the head, legs, trunk, voice, jaw, and facial muscles also may be involved. Aggravated by emotions, hunger, fatigue, and temperature extremes, the condition may cause a functional disability or even incapacitation. Autosomal dominant inheritance can be demonstrated in most families (summary by Higgins et al., 1997).Deng et al. (2007) provided a detailed review of the genetics of essential tremor. Genetic Heterogeneity of Essential TremorOther forms of hereditary essential tremor include ETM2 (OMIM ), mapped to chromosome 2p25-p22; ETM3 (OMIM ), mapped to chromosome 6p23; ETM4 (OMIM ), caused by mutation in the FUS gene (OMIM ) on chromosome 16p11; and ETM5 (OMIM ), caused by mutation in the TENM4 gene (OMIM ) on chromosome 11q14.

Most common symptoms of TREMOR, HEREDITARY ESSENTIAL, 1; ETM1

  • Hearing impairment
  • Ataxia
  • Cognitive impairment
  • Dysarthria
  • Fever


More info about TREMOR, HEREDITARY ESSENTIAL, 1; ETM1

SOURCES: OMIM

SCHIZOPHRENIA; SCZD


Alternate names

SCHIZOPHRENIA; SCZD Is also known as schizophrenia with or without an affective disorder

Description

Schizophrenia is a psychosis, a disorder of thought and sense of self. Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. There is no characteristic pathology, such as neurofibrillary tangles in Alzheimer disease (OMIM ). Schizophrenia is a common disorder with a lifetime prevalence of approximately 1%. It is highly heritable but the genetics are complex. This may not be a single entity.Schizophrenia and bipolar disorder (see {125480}) are generally considered to be separate entities, but patients who exhibit multiple symptoms of both disorders are often given the hybrid diagnosis schizoaffective disorder (Blacker and Tsuang, 1992). Genetic Heterogeneity of Schizophrenia with or without an Affective DisorderSCZD4 (OMIM ) is associated with variation in the PRODH gene (OMIM ); SCZD9 (OMIM ) with variation in the DISC1 gene (OMIM ); SCZD15 (OMIM ) with variation in the SHANK3 gene (OMIM ); SCZD16 (OMIM ) with a chromosome duplication involving the VIPR2 gene (OMIM ); SCZD17 (see {614332}) with variation in the NRXN1 gene (OMIM ); SCZD18 (OMIM ) with variation in the SLC1A1 gene (OMIM ); and SCZD19 (OMIM ) with variation in the RBM12 gene (OMIM ).For associations pending confirmation, see MAPPING and MOLECULAR GENETICS.

Most common symptoms of SCHIZOPHRENIA; SCZD

  • Intellectual disability
  • Microcephaly
  • Behavioral abnormality
  • Depressivity
  • Dementia


More info about SCHIZOPHRENIA; SCZD

SOURCES: OMIM


Potential gene panels for DRD3 gene

DRD3. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the DRD3 gene.

More info about this panel

Hereditary essential tremor (sequence analysis of DRD3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the DRD3 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

DRD3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DRD3 gene.

More info about this panel

Schizophrenia, susceptibility to Panel

Spain.

By Bioarray

This panel specifically test the DRD3 gene.

More info about this panel

Schizophrenia Susceptibility to , Sequencing DRD3 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the DRD3 gene.

More info about this panel

Hereditary Essential Tremor, Panel Massive Sequencing (NGS) DRD3, TENM4, FUS Genes Panel

Spain.

By Reference Laboratory Genetics Hereditary Essential Tremor, Panel Massive Sequencing (NGS) DRD3, TENM4, FUS Genes that also includes the following genes: TENM4 DRD3 FUS

More info about this panel


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