Coffin-Siris Syndrome 1 (CSS1)

Alias:

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

Mrd12

Css1

Mental Retardation, Autosomal Dominant 12

Dwarfism-Onychodysplasia

Hhid

Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features

Mental Retardation with Hypoplastic Fifth Fingernails and Toenails

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Coffin-Siris Syndrome 1, also known as coffin-siris syndrome, is related to coffin-siris syndrome 5 and coffin-siris syndrome 4. An important gene associated with Coffin-Siris Syndrome 1 is ARID1B (AT-Rich Interaction Domain 1B), and among its related pathways/superpathways are Gene expression (Transcription) and RNA Polymerase I Promoter Opening. Affiliated tissues include bone and heart, and related phenotypes are coarse facial features and thick eyebrow

Related ID：

MALACARDS：CFF008

OMIM：135900

MESH：C536436