GABRD gene related symptoms and diseases
All the information presented here about the GABRD gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GABRD gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Very Common - Between 80% and 100% cases |
Intellectual disability | Common - Between 50% and 80% cases |
Absence seizures | Common - Between 50% and 80% cases |
Generalized tonic-clonic seizures | Common - Between 50% and 80% cases |
Generalized myoclonic seizures | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with GABRD gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Febrile seizures
Not very common - Between 30% and 50% cases
- Focal-onset seizure
- Aggressive behavior
- Generalized-onset seizure
Rarely - Less than 30% cases
- Abnormal lung lobation
- Foot polydactyly
- Spinal canal stenosis
- Aortic root aneurysm
And 253 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GABRD gene
Here you will find a list of rare diseases related to the GABRD. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
1P36 DELETION SYNDROME
Alternate names
1P36 DELETION SYNDROME Is also known as del(1)(p36), monosomy 1p36, monosomy 1pter, deletion 1pter, deletion 1p36, monosomy 1p36 syndrome, subtelomeric 1p36 deletion
Description
1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.
Most common symptoms of 1P36 DELETION SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about 1P36 DELETION SYNDROME
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS
Alternate names
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS Is also known as gefs+1, gefs+, gefs+, type 1
Description
Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms).
Most common symptoms of GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS
- Intellectual disability
- Seizures
- Fever
- Generalized tonic-clonic seizures
- Generalized myoclonic seizures
More info about GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10; EIG10
Description
Idiopathic generalized epilepsy (EIG) is a broad term that encompasses several common seizure phenotypes, classically including childhood absence epilepsy (CAE, ECA), juvenile absence epilepsy (JAE), and juvenile myoclonic epilepsy (JME, EJM) (Commission on Classification and Terminology of the International League Against Epilepsy, 1989). Generalized epilepsy with febrile seizures plus (GEFS+) shows phenotypic overlap with IGE, and includes patients with early-onset febrile seizures who later develop various types of febrile and afebrile seizures, such as those observed in EIG (summary by Singh et al., 1999).For a general phenotypic description and a discussion of genetic heterogeneity of EIG, see {600669}.For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.For a general phenotypic description and a discussion of genetic heterogeneity of EJM, see {254770}.
Most common symptoms of EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10; EIG10
- Seizures
- Generalized tonic-clonic seizures
- Generalized myoclonic seizures
- Focal-onset seizure
- Febrile seizures
More info about EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10; EIG10
SOURCES: OMIM
JUVENILE MYOCLONIC EPILEPSY
Alternate names
JUVENILE MYOCLONIC EPILEPSY Is also known as janz syndrome, juvenile myoclonus epilepsy, jme, myoclonic epilepsy, juvenile, petit mal, impulsive
Description
Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).
Most common symptoms of JUVENILE MYOCLONIC EPILEPSY
- Intellectual disability
- Seizures
- Depressivity
- Myoclonus
- Aggressive behavior
More info about JUVENILE MYOCLONIC EPILEPSY
Search interest in GABRD
Potential gene panels for GABRD gene
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC6A1
More info about this panelEpilepsy Advanced Sequencing and CNV Evaluation Panel
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5
More info about this panelNGS Epilepsy/Seizure Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Epilepsy/Seizure Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panelSCN1A, SCN1B, GABRG2, GABRD, SCN9A. NextGeneDx.Complete sequencing by NGS Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica SCN1A, SCN1B, GABRG2, GABRD, SCN9A. NextGeneDx.Complete sequencing by NGS that also includes the following genes: SCN1A SCN1B SCN9A GABRD GABRG2
More info about this panelGABRD. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GABRD gene.
More info about this panelEpilepsy, idiopathic generalized type 10 (sequence analysis of GABRD gene) Panel
By CGC Genetics
This panel specifically test the GABRD gene.
More info about this panelEpilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE
More info about this panelJuvenile Myoclonic Epilepsy (JME) Panel
By MGZ Medical Genetics Center Juvenile Myoclonic Epilepsy (JME) that also includes the following genes: EFHC1 GABRD
More info about this panelGABRD-Related Juvenile Myoclonic Epilepsy Panel
By MGZ Medical Genetics Center
This panel specifically test the GABRD gene.
More info about this panelNeurogenetic Disorders - panels Panel
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panelEpileptic Encephalopathy Panel
By MGZ Medical Genetics Center Epileptic Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SGCE SLC2A1 SPTAN1 CDKL5 STXBP1 SYNGAP1
More info about this panelProgressive Myoclonic Epilepsy Panel
By MGZ Medical Genetics Center Progressive Myoclonic Epilepsy that also includes the following genes: SGCE CACNB4 NPC2 CASR EFHC1 SCARB2 PRICKLE1 PRICKLE2 TPP1 CLN3
More info about this panelEpilepsy and Mitochondrial Encephalopathy Panel
By MGZ Medical Genetics Center Epilepsy and Mitochondrial Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panelBrain Malformations / Neuronal Migration Disorders Panel
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panelFebrile Seizures Panel
By MGZ Medical Genetics Center Febrile Seizures that also includes the following genes: SCN1A SCN1B SCN2A PCDH19 STX1B GABRA1 GABRD HCN1
More info about this panelEpilepsy Panel
By MGZ Medical Genetics Center Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panelFebrile seizures / genetic epilepsy with febrile seizures plus (GEFS+) panel Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht Febrile seizures / genetic epilepsy with febrile seizures plus (GEFS+) panel that also includes the following genes: SCN1A SCN1B SCN2A SCN9A PCDH19 ADGRV1 CLCN2 TBC1D24 GABRD GABRG2
More info about this panelIGE/JME/CAE panel Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht IGE/JME/CAE panel that also includes the following genes: SLC2A1 BRD2 CACNA1H CACNB4 CASR EFHC1 CLCN2 GABRA1 GABRB3 GABRD
More info about this panelGeneralized epilepsy with febrile seizures plus type 5 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the GABRD gene.
More info about this panelEpilepsy, idiopathic generalized type 10 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the GABRD gene.
More info about this panelAllNeuro panel Panel
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 panelGABRD Panel
By Amplexa Genetics Amplexa Genetics A/S
This panel specifically test the GABRD gene.
More info about this panelIdiopathic Generalized and Focal Epilepsy Panel Panel
By CeGaT GmbH Idiopathic Generalized and Focal Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC1A3 SLC2A1 CACNA1A CACNA1H CACNB4
More info about this panelGeneralized epilepsy with febrile seizures plus Panel
By Laboratory of Human Genetics GENOMED Health Care Center Generalized epilepsy with febrile seizures plus that also includes the following genes: SCN1A SCN1B SCN2A SCN9A GABRD GABRG2
More info about this panelEpilepsy Panel
By Asper Biogene Asper Biogene LLC Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC35A2 SLC35A3 SLC6A1 SLC6A8
More info about this panelEpilepsy, generalized with febrile seizures plus (GEFS+) 5 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the GABRD gene.
More info about this panelEpilepsy, idiopathic generalized, 10 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the GABRD gene.
More info about this panelEpilepsy, juvenile myoclonic 7 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the GABRD gene.
More info about this panelEpilepsy, generalized with febrile seizures plus (GEFS+) 5 Panel
By MedGene
This panel specifically test the GABRD gene.
More info about this panelEpilepsy, idiopathic generalized, 10 Panel
By MedGene
This panel specifically test the GABRD gene.
More info about this panelEpilepsy, juvenile myoclonic 7 Panel
By MedGene
This panel specifically test the GABRD gene.
More info about this panelDRAVET, SYNDROME & MIOCLONIC EPILEPSY Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DRAVET, SYNDROME & MIOCLONIC EPILEPSY that also includes the following genes: SCN1A SCN1B SCN2A SCN9A CACNB4 PCDH19 EFHC1 CHRNA7 NHLRC1 EPM2A
More info about this panelEPILEPSY HEREDITARY PANEL Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases EPILEPSY HEREDITARY PANEL that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 CDKL5 STXBP1 CACNA1A CACNA1H
More info about this panelEpilepsy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panelGABRD Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GABRD gene.
More info about this panelIdiopathic Generalized Epilepsy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Idiopathic Generalized Epilepsy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC9A6 SMC1A KDM5C CDKL5
More info about this panelEarly-Onset Epileptic Encephalopathy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Early-Onset Epileptic Encephalopathy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC25A12
More info about this panelComprehensive Epilepsy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panelGeneralized Epilepsy with Febrile Seizures Plus (GEFS+) type V Panel
By Bioarray
This panel specifically test the GABRD gene.
More info about this panelPROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL Panel
By Laboratorio de Genetica Clinica SL PROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL that also includes the following genes: SCN1A SCN1B SCN2A SCN9A SGCE SLC6A1 STXBP1 CACNB4 CERS1 PCDH19
More info about this panelFamilial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes Panel
By Reference Laboratory Genetics Familial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 CDKL5 STXBP1 CACNA1A CACNA1H
More info about this panelGeneralized Epilepsy with Febrile Seizures Plus, Panel Massive Sequencing (NGS) 5 Genes Panel
By Reference Laboratory Genetics Generalized Epilepsy with Febrile Seizures Plus, Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: SCN1A SCN1B SCN9A GABRD GABRG2
More info about this panelNeuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes Panel
By Reference Laboratory Genetics Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes that also includes the following genes: RYR1 SCN1A SCN1B SCN2A SCN4A SCN8A SCN9A ST3GAL3 ST3GAL5 SPTAN1
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