ARHGEF9 gene related symptoms and diseases

All the information presented here about the ARHGEF9 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, 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 ARHGEF9 gene

Symptoms // Phenotype	% Cases
Intellectual disability	Very Common - Between 80% and 100% cases
Seizures	Very Common - Between 80% and 100% cases
Lack of spontaneous play	Uncommon - Between 30% and 50% cases
Restrictive behavior	Uncommon - Between 30% and 50% cases
Inflexible adherence to routines or rituals	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ARHGEF9 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Impaired use of nonverbal behaviors
Increased serum serotonin
Stereotypy
Autistic behavior
EEG abnormality
Autism
Delayed speech and language development
Atrial septal defect

And 10 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ARHGEF9 gene

Here you will find a list of rare diseases related to the ARHGEF9. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

HYPEREKPLEXIA-EPILEPSY SYNDROME

Alternate names

HYPEREKPLEXIA-EPILEPSY SYNDROME Is also known as hyperekplexia and epilepsy

Description

Early infantile epileptic encephalopathy-8 is an X-linked disorder characterized by seizure onset before 2 years of age and severe developmental delay. Some patients have hyperekplexia (summary by Shimojima et al., 2011).For general phenotypic descriptions and discussions of genetic heterogeneity of early infantile epileptic encephalopathy and hyperekplexia, see EIEE1 (OMIM ) and hereditary hyperekplexia (OMIM ), respectively.

Most common symptoms of HYPEREKPLEXIA-EPILEPSY SYNDROME

Intellectual disability
Seizures
Global developmental delay
Intellectual disability, severe
Hypertonia

More info about HYPEREKPLEXIA-EPILEPSY SYNDROME

SOURCES: MESH ORPHANET OMIM

AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

Description

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of genetic heterogeneity of autism, see {209850}.

Most common symptoms of AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

Intellectual disability
Seizures
Delayed speech and language development
Atrial septal defect
Autism

More info about AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

SOURCES: MESH OMIM

Search interest in ARHGEF9

Potential gene panels for ARHGEF9 gene

Epilepsy Advanced Sequencing and CNV Evaluation Panel

United States.

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

ARHGEF9 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to ARHGEF9 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to ARHGEF9 gene

HYPEREKPLEXIA-EPILEPSY SYNDROME

Alternate names

Description

Most common symptoms of HYPEREKPLEXIA-EPILEPSY SYNDROME

AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

Description

Most common symptoms of AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

Search interest in ARHGEF9

Potential gene panels for ARHGEF9 gene

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy Panel

Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Panel

NGS XLID Panel Panel

NGS Epilepsy/Seizure Panel Panel

Epilepsy/Seizure Panel

X-Linked Intellectual Disabilities Deletion/Duplication Panel

X-linked Intellectual Disabilities Sequencing Panel

X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel

ARHGEF9 sequencing Panel

Non-Specific Intellectual Disability Panel Panel

Early Infantile Epileptic Encephalopathy Panel Panel

X-linked Non-Specific Intellectual Disability Panel Panel

ARHGEF9 gene sequence and deletion/duplication Panel

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

EpilepsyNext Panel

EpiRapid reflex EpilepsyNext Panel

IDNext Panel

CHOP Epilepsy Panel Panel

Epileptic encephalopathy, early infantile type 8 (sequence analysis of ARHGEF9 gene) Panel

Early infantile epileptic encephalopathy (NGS panel for 26 genes) Panel

Epileptic encephalopathy (NGS panel for 67 genes) Panel

Mental retardation, X-linked (NGS panel for 89 genes) Panel

Hyperekplexia (NGS panel for 7 genes) Panel

Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection Panel

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

Epilepsy: Early Infantile Epileptic Encephalopathy via ARHGEF9 Gene Sequencing with CNV Detection Panel

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection Panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

Mental retardation - different panels Panel

Neurogenetic Disorders - panels Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

Epileptic Encephalopathy Panel

X-Linked Mental Retardation Panel

Epilepsy and Mitochondrial Encephalopathy Panel

Hyperekplexia Panel

Epilepsy Panel

ARHGEF9 Panel

Epileptic encephalopathy panel Panel

Hyperekplexia panel Panel

Epileptic encephalopathy, early infantile type 8 Panel

AllNeuro panel Panel

Epileptic Encephalopathy Panel Panel

Epilepsy and X-linked Mental Retardation with Seizures Panel Panel

Hyperekplexia Panel Panel

Single gene testing ARHGEF9 Panel

Epilepsy Panel

Invitae Epilepsy Panel Panel

Invitae Early Infantile Epileptic Encephalopathy Panel Panel

Invitae Hereditary Hyperekplexia Panel Panel

Invitae Neurotransmitter Disorders Panel Panel

Epileptic encephalopathies Panel

ARHGEF9-Related Hereditary Hyperekplexia: ARHGEF9 Gene Sequencing Panel

ARHGEF9-Related Hereditary Hyperekplexia: ARHGEF9 Gene Deletion/Duplication Panel

Epilepsy and Seizure Disorders: Sequencing Panel Panel

X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel Panel

Neurology: Sequencing Panel Panel

Epilepsy and Seizure Disorders: Deletion/Duplication Panel Panel

Epilepsy NGS Panel Panel

XLID NGS Panel Panel

ARHGEF9 Panel

Essential Epilepsy NGS Panel Panel

Idiopathic Generalized Epilepsy NGS Panel Panel