Woodhouse-Sakati Syndrome (WDSKS)

Woodhouse-Sakati Syndrome(来自ICD-11)

别称:

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

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Woodhouse-Sakati Syndrome, also known as diabetes-hypogonadism-deafness-intellectual disability syndrome, is related to choreatic disease and movement disease, and has symptoms including abnormality of extrapyramidal motor function An important gene associated with Woodhouse-Sakati Syndrome is DCAF17 (DDB1 And CUL4 Associated Factor 17), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Autophagy. The drug Iron has been mentioned in the context of this disorder. Affiliated tissues include uterus and testes, and related phenotypes are dysarthria and hypothyroidism

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