CNTNAP2 gene related symptoms and diseases

All the information presented here about the CNTNAP2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,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 CNTNAP2 gene

Symptoms // Phenotype	% Cases
Intellectual disability	Very Common - Between 80% and 100% cases
Autistic behavior	Very Common - Between 80% and 100% cases
Hyperventilation	Common - Between 50% and 80% cases
Generalized hypotonia	Common - Between 50% and 80% cases
Seizures	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with CNTNAP2 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Wide mouth
Intellectual disability, severe
Abnormal facial shape
Not very common - Between 30% and 50% cases
Coarse facial features
Encephalopathy
Constipation
Autism
Gastroesophageal reflux

And 138 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to CNTNAP2 gene

Here you will find a list of rare diseases related to the CNTNAP2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

PITT-HOPKINS SYNDROME

Alternate names

PITT-HOPKINS SYNDROME Is also known as encephalopathy, severe epileptic, with autonomic dysfunction, mental retardation, syndromal, with intermittent hyperventilation

Description

Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.

Most common symptoms of PITT-HOPKINS SYNDROME

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Hearing impairment

More info about PITT-HOPKINS SYNDROME

SOURCES: ORPHANET OMIM MESH

PITT-HOPKINS-LIKE SYNDROME

Description

Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated.

Most common symptoms of PITT-HOPKINS-LIKE SYNDROME

Intellectual disability
Seizures
Generalized hypotonia
Scoliosis
Growth delay

More info about PITT-HOPKINS-LIKE SYNDROME

SOURCES: OMIM ORPHANET

AUTISM, SUSCEPTIBILITY TO, 15; AUTS15

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, 15; AUTS15

Intellectual disability
Atrial septal defect
Autism
Autistic behavior

More info about AUTISM, SUSCEPTIBILITY TO, 15; AUTS15

SOURCES: OMIM

CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME

Alternate names

CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME Is also known as cdfe syndrome, cortical dysplasia-focal epilepsy syndrome, cdfes

Description

Cortical dysplasia-focal epilepsy syndrome is a rare genetic epilepsy characterized by relatively large head circumference or macrocephaly, diminished or absent deep-tendon reflexes and mild gross motor delay in infancy, followed by intractable focal seizures with language regression, behavioral abnormalities (hyperactivity, attention deficit, aggressive/autoaggressive behavior, autistic features) and intellectual disability later in life.

Most common symptoms of CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

More info about CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME

SOURCES: OMIM ORPHANET

Search interest in CNTNAP2

Potential gene panels for CNTNAP2 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

CNTNAP2 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to CNTNAP2 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Not very common - Between 30% and 50% cases

Rare diseases associated to CNTNAP2 gene

PITT-HOPKINS SYNDROME

Alternate names

Description

Most common symptoms of PITT-HOPKINS SYNDROME

PITT-HOPKINS-LIKE SYNDROME

Description

Most common symptoms of PITT-HOPKINS-LIKE SYNDROME

AUTISM, SUSCEPTIBILITY TO, 15; AUTS15

Description

Most common symptoms of AUTISM, SUSCEPTIBILITY TO, 15; AUTS15

CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME

Alternate names

Description

Most common symptoms of CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME

Search interest in CNTNAP2

Potential gene panels for CNTNAP2 gene

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy Panel

Syndromic Autism Panel Panel

Rett-Angelman Syndrome 2nd-Tier Sequencing Panel Panel

NGS Epilepsy/Seizure Panel Panel

Pitt-Hopkins Syndrome (TCF4, CNTNAP2) Panel

Autism Spectrum Disorders 53-Gene Panel Panel

Childhood Epilepsy Panel

Epilepsy/Seizure Panel

Infantile Epilepsy Panel

Rett - Angelman Syndrome Panel

CNTNAP2 Sequencing Panel

CNTNAP2 Deletion/duplication analysis Panel

Rett/Angelman Syndrome Deletion/Duplication Panel Panel

Non-Specific Intellectual Disability Panel Panel

Autosomal Recessive Non-Specific Intellectual Disability Panel Panel

Rett/Angelman Syndrome Sequencing Panel Panel

Epilepsy Panel - Comprehensive Panel

Comprehensive Epilepsy Panel Panel

Infantile Epilepsy Panel Panel

Childhood-Onset Epilepsy Panel Panel

Rett/Angelman Syndrome Panel Panel

Rett/Atypical Rett/Angelman Panel

Autism/Intellectual Disability/Multiple Anomalies Panel

AutismNext Panel

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

EpilepsyNext Panel

EpiRapid reflex EpilepsyNext Panel

IDNext Panel

Cortical dysplasia-focal epilepsy syndrome (sequence analysis of CNTNAP2 gene) Panel

Epileptic encephalopathy (NGS panel for 67 genes) Panel

Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection Panel

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

Cortical Dysplasia-Focal Epilepsy Syndrome via CNTNAP2 Gene Sequencing with CNV Detection Panel

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

Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel

Rett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel with CNV Detection Panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

Mental retardation - different panels Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

Brain Malformations / Neuronal Migration Disorders Panel

Angelman Syndrome and Differential Diagnoses Panel

Epileptic syndromes with epilepsy and intellectual disability panel Panel

AllNeuro panel Panel

Cortical dysplasia-focal epilepsy syndrome Panel

Epileptic Encephalopathy Panel Panel

Single gene testing CNTNAP2 Panel

Autism Spectrum Disorders Panel

Invitae Epilepsy Panel Panel

Invitae Rett and Angelman Syndromes and Related Disorders Panel Panel

Autism Panel

CNTNAP2-Related Disorders: CNTNAP2 Gene Sequencing Panel

CNTNAP2-Related Disorders: CNTNAP2 Gene Deletion/Duplication Panel

Epilepsy and Seizure Disorders: Sequencing Panel Panel

Autism Spectrum Disorders: Tier 2 Panel Panel

Neurology: Sequencing Panel Panel