Coffin-Siris Syndrome 4 (CSS4)

Alias:

Mrd16

Css4

Mental Retardation, Autosomal Dominant 16

Intellectual Disability, Autosomal Dominant 16

Autosomal Dominant Mental Retardation 16

Coffin-Siris Syndrome, Type 4

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Coffin-Siris Syndrome 4, also known as mrd16, is related to coffin-siris syndrome 1 and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Coffin-Siris Syndrome 4 is SMARCA4 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4), and among its related pathways/superpathways is RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known. Affiliated tissues include heart and bone, and related phenotypes are intellectual disability and global developmental delay

Related ID：

MALACARDS：CFF009

OMIM：614609

MESH：D000015