CASK gene related symptoms and diseases

All the information presented here about the CASK 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 CASK gene

Symptoms // Phenotype	% Cases
Seizures	Very Common - Between 80% and 100% cases
Intellectual disability	Common - Between 50% and 80% cases
Nystagmus	Common - Between 50% and 80% cases
Short neck	Common - Between 50% and 80% cases
Sensorineural hearing impairment	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

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

Commonly - More than 50% cases
Strabismus
Micrognathia
Cerebellar hypoplasia
Long philtrum
Hypertelorism
Scoliosis
Microcephaly
Hearing impairment

And 170 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to CASK gene

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

X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE

Alternate names

X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE Is also known as fgs1, keller syndrome, fg syndrome, fgs, x-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome, mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum, fg syndrome 1, micpch

Description

Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.

Most common symptoms of X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

More info about X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE

SOURCES: OMIM ORPHANET

MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH

Alternate names

MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH Is also known as micpch syndrome, mrxsna, mental retardation, x-linked, syndromic, najm type

Description

Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) is an X-linked disorder affecting females and characterized by severe intellectual disability, microcephaly, and variable degrees of pontocerebellar hypoplasia. Affected individuals have very poor psychomotor development, often without independent ambulation or speech, and axial hypotonia with or without hypertonia. Some may have sensorineural hearing loss or eye anomalies. Dysmorphic features include overall poor growth, severe microcephaly (-3.5 to -10 SD), broad nasal bridge and tip, large ears, long philtrum, micrognathia, and hypertelorism (summary by Moog et al., 2011).

Most common symptoms of MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

More info about MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH

SOURCES: OMIM

FG SYNDROME 4; FGS4

Description

FG syndrome-4 is an X-linked recessive mental retardation syndrome characterized by congenital hypotonia, constipation, behavioral disturbances, and dysmorphic features (summary by Piluso et al., 2003).The name 'FG' derives from the first description of the disorder (FGS1 ) by Opitz and Kaveggia (1974), who named it 'FG syndrome' according to the Opitz system of using initials of patients' surnames. For a phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).FGS4 is typically associated with missense or hypomorphic mutations in the CASK gene. See also the more severe disorder MICPCH (OMIM ), an allelic disorder caused by complete loss-of-function mutations in the CASK gene (Tarpey et al., 2009).

Most common symptoms of FG SYNDROME 4; FGS4

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

More info about FG SYNDROME 4; FGS4

SOURCES: OMIM

EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

Alternate names

EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY Is also known as early infantile epileptic encephalopathy with suppression-bursts, ohtahara syndrome, eiee

Description

Early infantile epileptic encephalopathy (EIEE), or Ohtahara syndrome, is one of the most severe forms of age-related epileptic encephalopathies, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death.

Most common symptoms of EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

Seizures
Encephalopathy
Generalized myoclonic seizures
Focal-onset seizure
Epileptic encephalopathy

More info about EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

SOURCES: ORPHANET

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 CASK

Potential gene panels for CASK 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

CASK gene related symptoms and diseases

Top 5 symptoms and clinical features associated to CASK gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to CASK gene

X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE

Alternate names

Description

Most common symptoms of X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE

MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH

Alternate names

Description

Most common symptoms of MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH

FG SYNDROME 4; FGS4

Description

Most common symptoms of FG SYNDROME 4; FGS4

EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

Alternate names

Description

Most common symptoms of EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

Description

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

Search interest in CASK

Potential gene panels for CASK 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

NGS Epilepsy/Seizure Panel Panel

CASK-related X-linked intellectual disability Panel

Comprehensive Brain Malformation Panel Panel

Epilepsy/Seizure Panel

Microcephaly Panel

X-Linked Intellectual Disabilities Deletion/Duplication Panel

X-linked Intellectual Disabilities Sequencing Panel

X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel

CASK sequencing Panel

CASK deletion/duplication analysis Panel

Non-Specific Intellectual Disability Panel Panel

Early Infantile Epileptic Encephalopathy Panel Panel

X-linked Non-Specific Intellectual Disability Panel Panel

Cerebellar/Pontocerebellar Hypoplasia Sequencing Panel Panel

Microcephaly Sequencing Panel Panel

Cerebellar/Pontocerebellar Hypoplasia Deletion/Duplication Panel Panel

Microcephaly Deletion/Duplication Panel Panel

Ataxia Exome Panel Panel

Comprehensive Brain Malformations Panel Panel

Autism/Intellectual Disability/Multiple Anomalies Panel

CASK gene sequence and deletion/duplication Panel

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

EpilepsyNext Panel

EpiRapid reflex EpilepsyNext Panel

IDNext Panel

Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia - CASK Sequence Analysis Panel

Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia - CASK Known Point Mutation Analysis Panel

CHOP Epilepsy Panel Panel

FG syndrome (delection/duplication analysis of CASK gene) Panel

Mental retardation and microcephaly with pontine and cerebellar hypoplasia (sequence analysis of CASK gene) Panel

FG syndrome type 4 (sequence analysis of CASK gene) Panel

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

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

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

CASK Related Disorders, Microcephaly with Pontine and Cerebellar Hypoplasia, X-linked intellectual disability with or without Nystagmus and FG Syndrome Type 4 via CASK Gene Sequencing with CNV Detection Panel

Opitz G/BBB Syndrome Sequencing Panel with CNV Detection Panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

Mental retardation Panel

Mental retardation and microcephaly with pontine and cerebellar hypoplasia Panel

Mental retardation - different panels Panel

Pontocerebellar Hypoplasia 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

Mental retardation and microcephaly with pontine and cerebellar hypoplasia Panel

Pontocerebellar hypoplasia panel Panel

Microcephaly panel Panel