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.

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.

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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


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

More info about this panel

Coffin-Siris Syndrome Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Coffin-Siris Syndrome Panel that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 BTD HDAC8 ADNP

More info about this panel

Cornelia de Lange Syndrome PLUS Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Cornelia de Lange Syndrome PLUS Sequencing Panel that also includes the following genes: ROR2 SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 WNT5A HDAC8

More info about this panel

Non-Specific Intellectual Disability Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Non-Specific Intellectual Disability Panel that also includes the following genes: RPS6KA3 CLIP1 SCN2A ST3GAL3 SLC16A2 SLC25A1 SLC6A8 SLC9A6 SMARCA4 SMARCB1

More info about this panel

Coffin-Siris syndrome Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Coffin-Siris syndrome Sequencing Panel that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SOX11 ADNP ARID1B PHF6 ANKRD11

More info about this panel

Coffin-Siris syndrome Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Coffin-Siris syndrome Deletion/Duplication Panel that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SOX11 ADNP ARID1B PHF6 ANKRD11

More info about this panel

Cornelia de Lange PLUS Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Cornelia de Lange PLUS Deletion/Duplication Panel that also includes the following genes: ROR2 SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 WNT5A HDAC8

More info about this panel

AutismNext Panel

United States.

By Ambry Genetics AutismNext that also includes the following genes: SCN2A SLC6A8 SLC9A6 SMC1A CDKL5 SYNGAP1 TBR1 TCF4 MED12 TSC1

More info about this panel

CustomNext: Neuro Panel

United States.

By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2

More info about this panel

Neurodevelopment-Expanded Panel

United States.

By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2

More info about this panel

IDNext Panel

United States.

By Ambry Genetics IDNext that also includes the following genes: RPL10 RPS6KA3 SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMARCA2

More info about this panel

ARID1B. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ARID1B gene.

More info about this panel

ARID1B . Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ARID1B gene.

More info about this panel

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

Portugal.

By CGC Genetics

This panel specifically test the ARID1B gene.

More info about this panel

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

Portugal.

By CGC Genetics

This panel specifically test the ARID1B gene.

More info about this panel

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

Portugal.

By CGC Genetics Coffin-Siris syndrome (NGS panel of 5 genes) that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 ARID1A ARID1B

More info about this panel

COFFIN-SIRIS Panel

Belgium.

By Centre de Genetique Humaine Institut de Pathologie et de Genetique

This panel specifically test the ARID1B gene.

More info about this panel

Coffin-Siris Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Coffin-Siris Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 ARID1A SOX11 ARID1B

More info about this panel

Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 TAF1 TAF6 MED12 HDAC8

More info about this panel

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

United States.

By PreventionGenetics PreventionGenetics Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection that also includes the following genes: BDNF RPS6KA3 SCN2A SCN8A SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMC1A KDM5C

More info about this panel

Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Autism Spectrum Disorders Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN2A SGSH BRAF SLC6A1 SLC9A6 SPAST CDKL5 STXBP1 SYN2

More info about this panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE

More info about this panel

Coffin-Siris syndrome Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Coffin-Siris syndrome that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A ARID1B PHF6

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

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

Germany.

By MGZ Medical Genetics Center Coffin-Siris and Nicolaides-Baraitser Syndrome (CSS, NCBRS) that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A ARID1B PHF6

More info about this panel

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Brain Malformations / Neuronal Migration Disorders Panel

Germany.

By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2

More info about this panel

Mental retardation, autosomal dominant type 12 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ARID1B gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

COFFIN-SIRIS SYNDROME Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases COFFIN-SIRIS SYNDROME that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 ARID1A ARID1B

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

ARID1B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ARID1B gene.

More info about this panel

Mental retardation, autosomal dominant 12 Panel

Spain.

By Bioarray

This panel specifically test the ARID1B gene.

More info about this panel

Schwannomatosis-1, susceptibility to Panel

Spain.

By Bioarray

This panel specifically test the ARID1B gene.

More info about this panel

NeoTYPE® Discovery Profile for Solid Tumors Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2

More info about this panel

COFFIN-SIRIS SYNDROME NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL COFFIN-SIRIS SYNDROME NGS PANEL that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SOX11 ARID1B PHF6

More info about this panel

Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2

More info about this panel

Coffin-Siris Syndrome, Sequencing ARID1B Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ARID1B gene.

More info about this panel

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

Spain.

By Reference Laboratory Genetics Coffin-Siris Syndrome , Deletions-Duplications (MLPA) ARID1A and ARID1B Genes that also includes the following genes: ARID1A ARID1B

More info about this panel

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

Spain.

By Reference Laboratory Genetics Coffin-Siris Syndrome, Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 ARID1A ARID1B

More info about this panel

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

Spain.

By Reference Laboratory Genetics Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes that also includes the following genes: RPS6KA3 ST3GAL3 SLC6A8 SMARCA4 SMARCB1 ARID1A KDM5C STXBP1 SYNGAP1 SYP

More info about this panel

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

Spain.

By Reference Laboratory Genetics Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes that also includes the following genes: SMARCA4 SMARCB1 ARID1A SYNGAP1 TRIO ZBTB18 CACNG2 DEAF1 SETBP1 ADNP

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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