Woodhouse-Sakati Syndrome (WDSKS)

Alias:

Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome

Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome

Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, and Extrapyramidal Syndrome

Woodhouse Sakati Syndrome

Wdsks

Extrapyramidal Disorder, Progressive, with Primary Hypogonadism, Mental Retardation, and Alopecia

Progressive Extrapyramidal Disorder with Primary Hypogonadism, Mental Retardation, Alopecia

Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome

Wss

Favorite

基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

伍德豪斯-萨卡蒂综合症，又称糖尿病-性腺功能减退-耳聋-智力障碍综合症，与舞蹈病和运动病有关，症状包括外锥体运动功能异常。与伍德豪斯-萨卡蒂综合症相关的重要基因是DCAF17（DDB1和CUL4相关因子17），其相关通路/超级通路包括水溶性维生素和辅因子代谢和自噬。铁已被提及与这种疾病有关。附属组织包括子宫和睾丸，相关表型为口吃和甲状腺功能减退。

Related ID：

MALACARDS：WDH003

OMIM：241080

MESH：C536742