CSS2
MCID: ARD002
MIFTS: 8

Arid1a-Related Coffin-Siris Syndrome (CSS2) malady

Categories: Genetic diseases, Neuronal diseases, Mental diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Arid1a-Related Coffin-Siris Syndrome

Aliases & Descriptions for Arid1a-Related Coffin-Siris Syndrome:

Name: Arid1a-Related Coffin-Siris Syndrome 24
Mental Retardation, Autosomal Dominant 14 24 69
Coffin-Siris Syndrome 2 24
Mrd14 24
Css2 24

Classifications:



Summaries for Arid1a-Related Coffin-Siris Syndrome

MalaCards based summary : Arid1a-Related Coffin-Siris Syndrome, also known as mental retardation, autosomal dominant 14, is related to mental retardation, autosomal dominant 14. An important gene associated with Arid1a-Related Coffin-Siris Syndrome is ARID1A (AT-Rich Interaction Domain 1A).

Related Diseases for Arid1a-Related Coffin-Siris Syndrome

Diseases in the Coffin-Siris Syndrome family:

Arid1a-Related Coffin-Siris Syndrome Arid1b-Related Coffin-Siris Syndrome
Smarca4-Related Coffin-Siris Syndrome Smarcb1-Related Coffin-Siris Syndrome
Smarce1-Related Coffin-Siris Syndrome Coffin-Siris Syndrome 5

Diseases related to Arid1a-Related Coffin-Siris Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 mental retardation, autosomal dominant 14 12.2

Symptoms & Phenotypes for Arid1a-Related Coffin-Siris Syndrome

Drugs & Therapeutics for Arid1a-Related Coffin-Siris Syndrome

Search Clinical Trials , NIH Clinical Center for Arid1a-Related Coffin-Siris Syndrome

Genetic Tests for Arid1a-Related Coffin-Siris Syndrome

Genetic tests related to Arid1a-Related Coffin-Siris Syndrome:

id Genetic test Affiliating Genes
1 Arid1a-Related Coffin-Siris Syndrome 24 ARID1A

Anatomical Context for Arid1a-Related Coffin-Siris Syndrome

Publications for Arid1a-Related Coffin-Siris Syndrome

Variations for Arid1a-Related Coffin-Siris Syndrome

ClinVar genetic disease variations for Arid1a-Related Coffin-Siris Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ARID1A NM_006015.4(ARID1A): c.31_56del26 (p.Ser11Alafs) deletion Pathogenic rs797045262 GRCh38 Chromosome 1, 26696434: 26696459
2 ARID1A NM_006015.4(ARID1A): c.2758C> T (p.Gln920Ter) single nucleotide variant Pathogenic rs387906845 GRCh37 Chromosome 1, 27092737: 27092737
3 ARID1A NM_006015.4(ARID1A): c.4003C> T (p.Arg1335Ter) single nucleotide variant Pathogenic rs387906846 GRCh37 Chromosome 1, 27100207: 27100207
4 ARID1A NM_006015.4(ARID1A): c.394delG (p.Val132Trpfs) deletion Pathogenic rs797045263 GRCh37 Chromosome 1, 27023288: 27023288
5 ARID1A NM_006015.4(ARID1A): c.5965C> T (p.Arg1989Ter) single nucleotide variant Pathogenic rs879255270 GRCh38 Chromosome 1, 26779863: 26779863
6 ARID1A NM_006015.4(ARID1A): c.1113delG (p.Gln372Serfs) deletion Pathogenic rs875989848 GRCh38 Chromosome 1, 26697516: 26697516
7 ARID1A NM_006015.4(ARID1A): c.3679G> T (p.Glu1227Ter) single nucleotide variant Pathogenic rs875989849 GRCh37 Chromosome 1, 27099442: 27099442

Expression for Arid1a-Related Coffin-Siris Syndrome

Search GEO for disease gene expression data for Arid1a-Related Coffin-Siris Syndrome.

Pathways for Arid1a-Related Coffin-Siris Syndrome

GO Terms for Arid1a-Related Coffin-Siris Syndrome

Sources for Arid1a-Related Coffin-Siris Syndrome

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