Coffin-Siris Syndrome 2 (CSS2)

Alias:

Mrd14

Css2

Mental Retardation, Autosomal Dominant 14

Intellectual Disability, Autosomal Dominant 14

Autosomal Dominant Mental Retardation 14

Coffin-Siris Syndrome, Type 2

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Coffin-Siris Syndrome 2, also known as mrd14, is related to ovarian small cell carcinoma and spinal canal and spinal cord meningioma. An important gene associated with Coffin-Siris Syndrome 2 is ARID1A (AT-Rich Interaction Domain 1A), and among its related pathways/superpathways are Chromatin Regulation / Acetylation and 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 ptosis

Related ID：

MALACARDS：CFF007

OMIM：614607

MESH：D000015