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 features

Patients 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
  • Seizures
  • Involuntary movements
  • Myoclonus
  • Dementia
  • Intellectual disability, moderate

And 16 more phenotypes, you can get all of them using our tools for rare diseases.

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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


Alternate names

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

Description

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
  • Seizures
  • Ataxia
  • Tremor
  • Headache


More info about BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY

SOURCES: OMIM MESH ORPHANET

EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2


Alternate names

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

Description

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
  • Seizures
  • Ataxia
  • Cognitive impairment
  • Tremor


More info about EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2

SOURCES: MESH OMIM


Potential gene panels for ADRA2B gene

Mental retardation - different panels Panel

Germany.

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 ATXN10

More info about this panel

ADRA2B Panel

United States.

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

Spain.

By Reference Laboratory Genetics Benign Adult Familial Myoclonic Epilepsy , Panel Sequencing CNTN2, ADRA2B Genes that also includes the following genes: CNTN2 ADRA2B

More info about this panel


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