ADRA2B gene related symptoms and diseases
All the information presented here about the ADRA2B 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 ADRA2B gene
|Symptoms // Phenotype||% Cases|
|Intellectual disability||Very Common - Between 80% and 100% cases|
|Focal-onset seizure||Very Common - Between 80% and 100% cases|
|Enhancement of the C-reflex||Very Common - Between 80% and 100% cases|
|Jerk-locked premyoclonus spikes||Very Common - Between 80% and 100% cases|
|EEG with irregular generalized spike and wave complexes||Very Common - Between 80% and 100% cases|
Other less frequent symptoms and clinical featuresPatients with ADRA2B gene alterations may also develop some of the following symptoms and phenotypes:
Commonly - More than 50% cases
- EEG with photoparoxysmal response
- Giant somatosensory evoked potentials
- Hand tremor
- Involuntary movements
- Intellectual disability, moderate
And 16 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ADRA2B gene
Here you will find a list of rare diseases related to the ADRA2B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY
BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY Is also known as adcme, bafme, benign adult familial myoclonic epilepsy 1, autosomal dominant cortical myoclonus and epilepsy, fame, cortical myoclonic tremor with epilepsy, familial, 1, familial adult myoclonic epilepsy, benign adult familial myoclonus epilepsy, familial cortica
Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.
Most common symptoms of BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY
- Intellectual disability
More info about BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2 Is also known as adcme, bafme2, cortical myoclonic tremor with epilepsy, familial, 2, benign adult familial myoclonic epilepsy 2, cortical myoclonus and epilepsy, autosomal dominant, fcmte2
Familial adult myoclonic epilepsy-2 is an autosomal dominant neurologic disorder characterized by rhythmic myoclonic jerks of cortical origin. Some affected individuals have generalized tonic-clonic seizures, and rare patients show cognitive decline (summary by De Fusco et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (OMIM ).
Most common symptoms of EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2
- Intellectual disability
- Cognitive impairment
More info about EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2
Search interest in ADRA2B
Potential gene panels for ADRA2B gene
Mental retardation - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10More info about this panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ADRA2B gene.More info about this panel
Benign Adult Familial Myoclonic Epilepsy , Panel Sequencing CNTN2, ADRA2B Genes Panel
By Reference Laboratory Genetics Benign Adult Familial Myoclonic Epilepsy , Panel Sequencing CNTN2, ADRA2B Genes that also includes the following genes: CNTN2 ADRA2BMore info about this panel