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ENWolfram Syndrome 1 (WFS1)
Alias:
Wfs1
Didmoad
Diabetes Mellitus and Insipidus with Optic Atrophy and Deafness
Wfs
Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness Syndrome
Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness
Wolfram Syndrome, Type 1
Wolfram Syndrome
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Wolfram Syndrome 1, also known as wfs1, is related to neurogenic bladder and insulinoma, and has symptoms including ataxia, seizures and tremor. An important gene associated with Wolfram Syndrome 1 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 bone marrow and brain, and related phenotypes are diabetes mellitus and optic atrophy
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