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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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

Coffin-Siris Syndrome 1，也被称为Coffin-Siris综合症，与Coffin-Siris Syndrome 5和Coffin-Siris Syndrome 4有关。与Coffin-Siris Syndrome 1相关的基因是ARID1B（AT-Rich Interaction Domain 1B），其相关通路/超级通路包括基因表达（转录）和RNA聚合酶I启动子开放。附属组织包括骨和心脏，相关表型为粗糙的面部特征和浓密的眉毛

Related ID：

MALACARDS：CFF008

OMIM：135900

MESH：C536436