Disease or Syndrome
Wolfram syndrome
[ wool-fruhm, vawl- sin-drohm, -druhm ]
Subclass of:
Diabetes Mellitus, Insulin-Dependent;
Optic Atrophies, Hereditary;
Deaf-Blind Disorders;
Diabetes Insipidus
Definitions related to wolfram syndrome:
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A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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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.NICHD Pediatric TerminologyU.S. National Cancer Institute, 2021
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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.NCI ThesaurusU.S. National Cancer Institute, 2021
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WFS1 Wolfram syndrome spectrum disorder (WFS1-WSSD) is a progressive neurodegenerative disorder characterized by onset of diabetes mellitus (DM) and optic atrophy (OA) before age 16 years, and typically associated with other endocrine abnormalities, sensorineural hearing loss, and progressive neurologic abnormalities (cerebellar ataxia, peripheral neuropathy, dementia, psychiatric illness, and urinary tract atony). Although DM is mostly insulin-dependent, overall the course is milder (with lower prevalence of microvascular disease) than that seen in isolated DM. OA typically results in significantly reduced visual acuity in the first decade. Sensorineural hearing impairment ranges from congenital deafness to milder, sometimes progressive, hearing impairment.GeneReviewsUniversity of Washington, 2021
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Wolfram syndrome, which is also known by the acronym DIDMOAD, is an inherited condition characterized by diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), a gradual loss of vision caused by optic atrophy (OA), and deafness (D). Other symptoms may include bladder and bowel dysfunction, problems with the parts of the inner...National Center for Advancing Translational Sciences
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