DEPDC5 gene related symptoms and diseases

All the information presented here about the DEPDC5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to DEPDC5 gene

Symptoms // Phenotype	% Cases
Seizures	Common - Between 50% and 80% cases
Focal-onset seizure	Common - Between 50% and 80% cases
Focal sensory seizure	Common - Between 50% and 80% cases
Generalized tonic-clonic seizures	Uncommon - Between 30% and 50% cases
Intellectual disability	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with DEPDC5 gene alterations may also develop some of the following symptoms and phenotypes:

Rarely - Less than 30% cases
Cortical dysplasia
Loss of consciousness
Nocturnal seizures
Focal cortical dysplasia type IIa
Focal aware seizure
Heterotopia
Psychosis
Autistic behavior

And 23 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to DEPDC5 gene

Here you will find a list of rare diseases related to the DEPDC5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY

Alternate names

AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY Is also known as adnfle

Description

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.

Most common symptoms of AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY

Intellectual disability
Seizures
Behavioral abnormality
Dystonia
Focal-onset seizure

More info about AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY

SOURCES: OMIM MESH ORPHANET

AUTOSOMAL DOMINANT EPILEPSY WITH AUDITORY FEATURES

Alternate names

AUTOSOMAL DOMINANT EPILEPSY WITH AUDITORY FEATURES Is also known as partial epilepsy with auditory aura, partial epilepsy with auditory features, adlte, adeaf, autosomal dominant lateral temporal lobe epilepsy, adpeaf, epilepsy, lateral temporal lobe, autosomal dominant, epilepsy, partial, with auditory features

Description

Autosomal dominant lateral temporal lobe epilepsy is a specific form of temporal lobe epilepsy characterized by partial seizures originating from the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature (summary by Winawer et al., 2000). Genetic Heterogeneity of Temporal Lobe EpilepsySee also ETL2 (OMIM ), which maps to chromosome 12q; ETL3 (OMIM ), which maps to chromosome 4q; ETL4 (OMIM ), which maps to chromosome 9q; ETL5 (OMIM ), caused by mutation in the CPA6 gene (OMIM ) on chromosome 8q13; ETL6 (OMIM ), which maps to chromosome 3q25-q26; ETL7 (OMIM ), caused by mutation in the RELN gene (OMIM ) on chromosome 7q22; and ETL8 (OMIM ), caused by mutation in the GAL gene (OMIM ) on chromosome 11q13.

Most common symptoms of AUTOSOMAL DOMINANT EPILEPSY WITH AUDITORY FEATURES

Seizures
Generalized tonic-clonic seizures
Vertigo
Focal-onset seizure
Febrile seizures

More info about AUTOSOMAL DOMINANT EPILEPSY WITH AUDITORY FEATURES

SOURCES: ORPHANET OMIM

FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI

Alternate names

FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI Is also known as ffevf, familial partial epilepsy with variable foci

Description

Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described.

More info about FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI

SOURCES: ORPHANET

EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1; FFEVF1

Alternate names

EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1; FFEVF1 Is also known as epilepsy, familial focal, with variable foci, ffevf, fpevf, epilepsy, partial, with variable foci

Description

Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions in different family members. Many patients have an aura and show automatisms during the seizures, whereas others may have nocturnal seizures. There is often secondary generalization. Some patients show abnormal interictal EEG, and some patients have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. Penetrance of the disorder is incomplete (summary by Klein et al., 2012). Detailed electrophysiologic, brain imaging, and/or histologic studies have indicated that some patients have subtle or clear evidence of focal cortical dysplasia (FCD) (Baulac et al., 2015). Genetic Heterogeneity of Familial Focal Epilepsy With Variable FociSee also FFEVF2 (OMIM ), caused by mutation in the NPRL2 gene (OMIM ) on chromosome 3p21, FFEVF3 (OMIM ), caused by mutation in the NPRL3 gene (OMIM ) on chromosome 16p13, and FFEVF4 (OMIM ), caused by mutation in the SCN3A gene (OMIM ) on chromosome 2q24.

Most common symptoms of EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1; FFEVF1

Intellectual disability
Seizures
Global developmental delay
Autism
Autistic behavior

More info about EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1; FFEVF1

SOURCES: OMIM

Search interest in DEPDC5

Potential gene panels for DEPDC5 gene

Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel

United States.

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

DEPDC5 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to DEPDC5 gene

Other less frequent symptoms and clinical features

Rarely - Less than 30% cases

Rare diseases associated to DEPDC5 gene

AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY

Alternate names

Description

Most common symptoms of AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY

AUTOSOMAL DOMINANT EPILEPSY WITH AUDITORY FEATURES

Alternate names

Description

Most common symptoms of AUTOSOMAL DOMINANT EPILEPSY WITH AUDITORY FEATURES

FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI

Alternate names

Description

EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1; FFEVF1

Alternate names

Description

Most common symptoms of EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1; FFEVF1

Search interest in DEPDC5

Potential gene panels for DEPDC5 gene

Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

NGS Epilepsy/Seizure Panel Panel

DEPDC5 Sequencing Panel

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

EpiFirst-Focal Panel

EpilepsyNext Panel

EpiRapid reflex EpilepsyNext Panel

IDNext Panel

DEPDC5. Complete sequencing Panel

CHOP Epilepsy Panel Panel

Epilepsy, familial focal with variable foci (sequence analysis of DEPDC5 gene) Panel

Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes) Panel

Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes) Panel

Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection Panel

Familial Focal Epilepsy with Variable Foci via DEPDC5 Gene Sequencing with CNV Detection Panel

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

Mental retardation - different panels Panel

Familial Focal Epilepsy Panel

Neurogenetic Disorders - panels Panel

Brain Malformations / Neuronal Migration Disorders Panel

Epilepsy Panel

Epilepsy, familial focal with variable foci Panel

AllNeuro panel Panel

DEPDC5 Panel

Idiopathic Generalized and Focal Epilepsy Panel Panel

Epilepsy Panel

Invitae Epilepsy Panel Panel

EPILEPSY HEREDITARY PANEL Panel

Essential Epilepsy NGS Panel Panel

Idiopathic Generalized Epilepsy NGS Panel Panel

Early-Onset Epileptic Encephalopathy NGS Panel Panel

Comprehensive Epilepsy NGS Panel Panel

DEPDC5 Panel

Comprehensive Epilepsy Panel Panel

Idiopathic Generalized and Focal Epilepsy Panel Panel

EPILEPSY, NOCTURNAL FRONTAL LOBE (AUTOSOMAL DOMINANT) Panel

EPILEPSY, NOCTURNAL FRONTAL LOBE NGS PANEL Panel

Familial Focal Epilepsy with Variable Foci , Sequencing DEPDC5 Gene Panel