Wolfram Syndrome

Alias:

Didmoad Syndrome

Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Hearing Loss Syndrome

Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome

Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness

Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness

Didmoadud

Didmoad

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Wolfram Syndrome, also known as didmoad syndrome, is related to wolfram syndrome 2 and wolfram syndrome 1, and has symptoms including ataxia, seizures and tremor. An important gene associated with Wolfram Syndrome is WFS1 (Wolframin ER Transmembrane Glycoprotein), and among its related pathways/superpathways are Glucose / Energy Metabolism and Unfolded Protein Response (UPR). The drugs Acetylcysteine and Deferiprone have been mentioned in the context of this disorder. Affiliated tissues include eye and pituitary, and related phenotypes are diabetes mellitus and sensorineural hearing impairment

Related ID：

MALACARDS：WLF004

MESH：D014929