ARID1B gene related symptoms and diseases

All the information presented here about the ARID1B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,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 ARID1B gene

Symptoms // Phenotype	% Cases
Intellectual disability	Very Common - Between 80% and 100% cases
Global developmental delay	Very Common - Between 80% and 100% cases
Short stature	Very Common - Between 80% and 100% cases
Microcephaly	Very Common - Between 80% and 100% cases
Seizures	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ARID1B gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Wide mouth
Intrauterine growth retardation
Long eyelashes
Abnormality of cardiovascular system morphology
Thick eyebrow
Scoliosis
Coarse facial features
Hernia

And 247 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ARID1B gene

Here you will find a list of rare diseases related to the ARID1B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

6Q25 MICRODELETION SYNDROME

Alternate names

6Q25 MICRODELETION SYNDROME Is also known as del(6)(q25), monosomy 6q25

Description

6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.

Most common symptoms of 6Q25 MICRODELETION SYNDROME

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

More info about 6Q25 MICRODELETION SYNDROME

SOURCES: ORPHANET OMIM

COFFIN-SIRIS SYNDROME

Alternate names

COFFIN-SIRIS SYNDROME Is also known as css

Description

Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.

Most common symptoms of COFFIN-SIRIS SYNDROME

Intellectual disability
Seizures
Global developmental delay
Short stature
Hearing impairment

More info about COFFIN-SIRIS SYNDROME

SOURCES: ORPHANET

COFFIN-SIRIS SYNDROME 1; CSS1

Alternate names

COFFIN-SIRIS SYNDROME 1; CSS1 Is also known as fifth digit syndrome, coffin-siris syndrome, mrd12, css, mental retardation, autosomal dominant 12

Description

Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by Vergano and Deardorff, 2014). Mutations in the ARID1B gene are the most common cause of Coffin-Siris syndrome (Wieczorek et al., 2013). Genetic Heterogeneity of Coffin-Siris SyndromeForms of Coffin-Siris syndrome have been shown to be caused by mutations in genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor. These include CSS2 (OMIM ), caused by mutation in the ARID1A gene (OMIM ); CSS3 (OMIM ), caused by mutation in the SMARCB1 gene (OMIM ); CSS4 (OMIM ), caused by mutation in the SMARCA4 gene (OMIM ); CSS5 (OMIM ), caused by mutation in the SMARCE1 gene (OMIM ); CSS6 (OMIM ), caused by mutation in the ARID2 gene (OMIM ); and CSS7 (OMIM ), caused by mutation in the DPF2 gene (OMIM ).A similar phenotype, Nicolaides-Baraitser syndrome (NCBRS ), is also caused by mutation in a subunit of this complex, i.e., SMARCA2 (OMIM ).

Most common symptoms of COFFIN-SIRIS SYNDROME 1; CSS1

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

More info about COFFIN-SIRIS SYNDROME 1; CSS1

SOURCES: OMIM

INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME

Alternate names

INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME Is also known as sparse hair and mental retardation, nbs, nicolaides-baraitser syndrome

Description

Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

Most common symptoms of INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

More info about INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME

SOURCES: OMIM MESH ORPHANET

Search interest in ARID1B

Potential gene panels for ARID1B gene

Syndromic Autism Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Syndromic Autism Panel that also includes the following genes: SCN1A SCN2A BRAF SLC2A1 SLC9A6 SMC1A KDM5C CDKL5 STXBP1 TBR1

ARID1B gene related symptoms and diseases

Top 5 symptoms and clinical features associated to ARID1B gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to ARID1B gene

6Q25 MICRODELETION SYNDROME

Alternate names

Description

Most common symptoms of 6Q25 MICRODELETION SYNDROME

COFFIN-SIRIS SYNDROME

Alternate names

Description

Most common symptoms of COFFIN-SIRIS SYNDROME

COFFIN-SIRIS SYNDROME 1; CSS1

Alternate names

Description

Most common symptoms of COFFIN-SIRIS SYNDROME 1; CSS1

INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME

Alternate names

Description

Most common symptoms of INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME

Search interest in ARID1B

Potential gene panels for ARID1B gene

Syndromic Autism Panel Panel

Coffin-Siris Syndrome Panel Panel

Cornelia de Lange Syndrome PLUS Sequencing Panel Panel

Non-Specific Intellectual Disability Panel Panel

Coffin-Siris syndrome Sequencing Panel Panel

Coffin-Siris syndrome Deletion/Duplication Panel Panel

Cornelia de Lange PLUS Deletion/Duplication Panel Panel

AutismNext Panel

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

IDNext Panel

ARID1B. Complete sequencing Panel

ARID1B . Complete sequencing Panel

Mental retardation 12, AD (deletion/duplication analysis of ARID1B gene) Panel

Coffin-Siris syndrome (sequence analysis of ARID1B gene) Panel

Coffin-Siris syndrome (NGS panel of 5 genes) Panel

COFFIN-SIRIS Panel

Coffin-Siris Syndrome Sequencing Panel with CNV Detection Panel

Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel 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

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

Coffin-Siris syndrome Panel

Mental retardation - different panels Panel

Coffin-Siris and Nicolaides-Baraitser Syndrome (CSS, NCBRS) Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

Brain Malformations / Neuronal Migration Disorders Panel

Mental retardation, autosomal dominant type 12 Panel

AllNeuro panel Panel

COFFIN-SIRIS SYNDROME Panel

Intellectual Disability NGS Panel Panel

ARID1B Panel

Mental retardation, autosomal dominant 12 Panel

Schwannomatosis-1, susceptibility to Panel

NeoTYPE® Discovery Profile for Solid Tumors Panel

COFFIN-SIRIS SYNDROME NGS PANEL Panel

Providence Personalized Medicine Panel - Solid Tumor Panel

Coffin-Siris Syndrome, Sequencing ARID1B Gene Panel

Coffin-Siris Syndrome , Deletions-Duplications (MLPA) ARID1A and ARID1B Genes Panel

Coffin-Siris Syndrome, Panel Massive Sequencing (NGS) 5 Genes Panel

Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes Panel

Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes Panel

Tempus xT assay Panel

Tempus xO assay Panel