CUL4B gene related symptoms and diseases

All the information presented here about the CUL4B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,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 CUL4B gene

Symptoms // Phenotype	% Cases
Intellectual disability	Very Common - Between 80% and 100% cases
Macrocephaly	Very Common - Between 80% and 100% cases
Prominent nose	Very Common - Between 80% and 100% cases
Wide mouth	Very Common - Between 80% and 100% cases
Aggressive behavior	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CUL4B gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Coarse facial features
High forehead
Mandibular prognathia
Inguinal hernia
Intellectual disability, severe
Seizures
Ventriculomegaly
Gait ataxia

And 120 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to CUL4B gene

Here you will find a list of rare diseases related to the CUL4B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

Alternate names

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures, mrxs21, mrx59, mental retardation, x-linked 59, mrxs5, mental retardation, x-linked, syndromic, fried type, mrxsf, mental retardation, x-linked, syndromic 21, menta

Description

X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

Most common symptoms of X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Scoliosis

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

SOURCES: ORPHANET OMIM

X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE

Alternate names

X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome, mrss, mrxs15, mental retardation, x-linked, with short stature, mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait, mental retardation, x-linked, syndromic 15

Description

X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

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

Intellectual disability
Seizures
Short stature
Generalized hypotonia
Microcephaly

More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE

SOURCES: OMIM ORPHANET

Search interest in CUL4B

Potential gene panels for CUL4B 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

CUL4B gene related symptoms and diseases

Top 5 symptoms and clinical features associated to CUL4B gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to CUL4B gene

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

Alternate names

Description

Most common symptoms of X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE

Alternate names

Description

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

Search interest in CUL4B

Potential gene panels for CUL4B gene

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Panel

NGS XLID Panel Panel

NGS Overgrowth/Macrocephaly Panel Panel

Comprehensive Brain Malformation Panel Panel

Macrocephaly Panel

X-Linked Intellectual Disabilities Deletion/Duplication Panel

X-linked Intellectual Disabilities Sequencing Panel

X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel

Monogenic Obesity Sequencing Panel Panel

Macrocephaly Deletion/Duplication Panel Panel

Non-Specific Intellectual Disability Panel Panel

X-linked Non-Specific Intellectual Disability Panel Panel

Macrocephaly Sequencing Panel Panel

Monogenic Obesity Deletion/Duplication Panel Panel

Ataxia Exome Panel Panel

CUL4B gene sequence and deletion/duplication Panel

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

IDNext Panel

Mental retardation, X-linked type 15 (sequence analysis of CUL4B gene) Panel

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

Cabezas X-Linked Mental Retardation Syndrome via CUL4B 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

Comprehensive Monogenic Obesity Panel with CNV Detection Panel

Mental retardation - different panels Panel

Macrocephaly Panel

CUL4B Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

X-Linked Mental Retardation Panel

Newborn: “Floppy Infant “ Panel

Brain Malformations / Neuronal Migration Disorders Panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

Epileptic syndromes with epilepsy and intellectual disability panel Panel

Mental retardation, X-linked type 15 Panel

AllNeuro panel Panel

Epilepsy and X-linked Mental Retardation with Seizures Panel Panel

Brain malformations Panel

qCarrier Plus Panel

Invitae Overgrowth and Macrocephaly Syndromes Panel Panel

X-Linked Mental Retardation with Short Stature, Small Testes, Muscle Wasting, and Tremor: CUL4B Full Gene Sequencing Panel

X-Linked Mental Retardation with Short Stature, Small Testes, Muscle Wasting, and Tremor: CUL4B Gene Deletion/Duplication Panel

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

Macrocephaly: Sequencing Panel Panel

Epilepsy NGS Panel Panel

Intellectual Disability NGS Panel Panel

XLID NGS Panel Panel

CUL4B Panel

Idiopathic Generalized Epilepsy NGS Panel Panel

Comprehensive Epilepsy NGS Panel Panel

Monogenic Obesity Panel Panel

X-linked Intellectual Disability Panel Panel

Macrocephaly / Overgrowth Syndrome Panel Panel

Comprehensive Epilepsy Panel Panel

Tempus xO assay Panel