OPHN1 gene related symptoms and diseases

All the information presented here about the OPHN1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, 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 OPHN1 gene

Symptoms // Phenotype	% Cases
Intellectual disability	Very Common - Between 80% and 100% cases
Delayed speech and language development	Very Common - Between 80% and 100% cases
Autism	Very Common - Between 80% and 100% cases
Seizures	Very Common - Between 80% and 100% cases
Inflexible adherence to routines or rituals	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with OPHN1 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
External genital hypoplasia
Dysmetria
Long face
Abnormal cerebellum morphology
Triangular face
Prominent nose
Focal-onset seizure
Hypotelorism

And 55 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to OPHN1 gene

Here you will find a list of rare diseases related to the OPHN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

Alternate names

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome, ophn1 syndrome, mental retardation, x-linked 60, formerly, mrx60, formerly

Description

X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

Most common symptoms of X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Ataxia

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

SOURCES: OMIM ORPHANET MESH

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 OPHN1

Potential gene panels for OPHN1 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

OPHN1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to OPHN1 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to OPHN1 gene

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

Alternate names

Description

Most common symptoms of X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

Description

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

Search interest in OPHN1

Potential gene panels for OPHN1 gene

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Panel

Syndromic Autism Panel Panel

NGS XLID Panel Panel

Rett-Angelman Syndrome 2nd-Tier Sequencing Panel Panel

NGS Epilepsy/Seizure Panel Panel

Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance Panel

Comprehensive Brain Malformation 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

Rett/Angelman Syndrome Deletion/Duplication Panel Panel

Abnormal/Ambiguous Genitalia Sequencing Panel Panel

OPHN1 sequencing Panel

46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel Panel

Non-Specific Intellectual Disability Panel Panel

OPHN1 deletion/duplication analysis Panel

X-linked Non-Specific Intellectual Disability Panel Panel

Cerebellar/Pontocerebellar Hypoplasia Sequencing Panel Panel

Rett/Angelman Syndrome Sequencing Panel Panel

Cerebellar/Pontocerebellar Hypoplasia Deletion/Duplication Panel Panel

46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel Panel

Ataxia Exome Panel Panel

Comprehensive Brain Malformations Panel Panel

Autism/Intellectual Disability/Multiple Anomalies Panel

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

OPHN1 gene sequence and deletion/duplication Panel

IDNext Panel

OPHN1. Complete sequencing Panel

Angelman/Rett Seq Panel

Angelman/Rett Del/Dup Panel

Angelman/ Rett Seq + Del/Dup Panel

X-linked mental retardation (deletion/duplication analysis, multiple genes) Panel

Mental retardation with cerebellar hypoplasia, X-linked (sequence analysis of OPHN1 gene) Panel

Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) Panel

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

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

Mental Retardation with Cerebellar Hypoplasia and Distinctive Facial Appearance via OPHN1 Gene Sequencing with CNV Detection Panel

Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel

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

Ambiguous Genitalia Sequencing Panel with CNV Detection Panel

Mental retardation - different panels Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

X-Linked Mental Retardation Panel

Brain Malformations / Neuronal Migration Disorders Panel

Epileptic syndromes with epilepsy and intellectual disability panel Panel

Pontocerebellar hypoplasia panel Panel

AllNeuro panel Panel

Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance Panel

Epilepsy and X-linked Mental Retardation with Seizures Panel Panel

Single gene testing OPHN1 Panel

Spinocerebellar Ataxia Panel

Brain malformations Panel

qCarrier Plus Panel

Mental retardation, X-linked, non-syndromic Panel

XLMR with Cerebellar Hypoplasia and Distinctive Facial Appearance: OPHN1 Full Gene Sequencing Panel

XLMR with Cerebellar Hypoplasia and Distinctive Facial Appearance: OPHN1 Gene Deletion/Duplication Panel

Epilepsy and Seizure Disorders: Sequencing Panel Panel

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

Autism Spectrum Disorders: Tier 2 Panel Panel

Brain Malformations: Sequencing Panel Panel

Neurology: Sequencing Panel Panel