MCID: ARD005
MIFTS: 8

Arid1b-Related Disorder

Aliases & Classifications for Arid1b-Related Disorder

MalaCards integrated aliases for Arid1b-Related Disorder:

Name: Arid1b-Related Disorder 24

Summaries for Arid1b-Related Disorder

MalaCards based summary : Arid1b-Related Disorder is related to gastroesophageal reflux and coffin-siris syndrome 1. An important gene associated with Arid1b-Related Disorder is ARID1B (AT-Rich Interaction Domain 1B).

GeneReviews: NBK541502

Related Diseases for Arid1b-Related Disorder

Diseases related to Arid1b-Related Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 gastroesophageal reflux 10.1
2 coffin-siris syndrome 1 10.1
3 attention deficit-hyperactivity disorder 10.1
4 strabismus 10.1
5 cryptorchidism, unilateral or bilateral 10.1
6 alacrima, achalasia, and mental retardation syndrome 10.1
7 sleep apnea 10.1
8 scoliosis 10.1
9 constipation 10.1
10 hypertrichosis 10.1
11 mechanical strabismus 10.1
12 refractive error 10.1
13 hypotonia 10.1

Graphical network of the top 20 diseases related to Arid1b-Related Disorder:



Diseases related to Arid1b-Related Disorder

Symptoms & Phenotypes for Arid1b-Related Disorder

Drugs & Therapeutics for Arid1b-Related Disorder

Search Clinical Trials , NIH Clinical Center for Arid1b-Related Disorder

Genetic Tests for Arid1b-Related Disorder

Anatomical Context for Arid1b-Related Disorder

Publications for Arid1b-Related Disorder

Articles related to Arid1b-Related Disorder:

(show all 25)
# Title Authors PMID Year
1
A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features. 38 4
27570168 2016
2
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. 4
30349098 2019
3
First data from a parent-reported registry of 81 individuals with Coffin-Siris syndrome: Natural history and management recommendations. 4
30276971 2018
4
A 69-year-old woman with Coffin-Siris syndrome. 4
30055038 2018
5
Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders. 4
30123105 2018
6
Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment. 4
28695822 2017
7
ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability. 4
27474218 2016
8
Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. 4
26395437 2016
9
Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome. 4
25099957 2014
10
The ARID1B phenotype: what we have learned so far. 4
25169814 2014
11
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. 4
25168959 2014
12
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. 4
23929686 2013
13
Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma. 4
23202128 2013
14
SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability. 4
23010866 2012
15
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B. 4
21801163 2012
16
The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases. 4
22711679 2012
17
Delineation of the interstitial 6q25 microdeletion syndrome: refinement of the critical causative region. 4
22585544 2012
18
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 4
22426308 2012
19
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. 4
22405089 2012
20
Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss. 4
19034313 2009
21
Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study. 4
11170086 2001
22
New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome. 4
10649791 2000
23
Brachymorphism-onychodysplasia-dysphalangism syndrome. 4
8445623 1993
24
Partial trisomy 9 with resemblance to Coffin-Siris syndrome. 4
933124 1976
25
ARID1B-Related Disorder 38
31132234 2019

Variations for Arid1b-Related Disorder

Expression for Arid1b-Related Disorder

Search GEO for disease gene expression data for Arid1b-Related Disorder.

Pathways for Arid1b-Related Disorder

GO Terms for Arid1b-Related Disorder

Sources for Arid1b-Related Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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