Disease_Mapped_To_Gene CISD2 Gene Pediatric Endocrinology Terminology Cellosaurus Disease Terminology WFS1 Gene Syndrome Wolfram Syndrome Wolfram Syndrome A neurodegenerative condition due to recessive mutation(s) in the WFS1 gene, encoding the membrane glycoprotein wolframin, and the CISD2 gene, encoding CDGSH iron sulfur domain protein 2 (or endoplasmic reticulum intermembrane small protein). This condition is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Additional clinical features may include renal anomalies, ataxia, intellectual impairment, and psychiatric illnesses. A similar condition may be caused by mutations in mitochondrial DNA. A rare inherited syndrome caused by mutations in the WFS1 and CISD2 genes. It is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Cellosaurus Wolfram_Syndrome C0043207 Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness Syndrome NICHD C35133 Wolfram Syndrome Disease or Syndrome DIDMOAD Rare Non-Neoplastic Disorder NICHD Terminology