Wolfram syndrome - Wikipedia
Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders including neurodegeneration. Symptoms can start to appear as early as ...
Wolfram Syndrome: What It Is, Symptoms & Treatment - Cleveland Clinic
Wolfram syndrome is a rare genetic disease. It’s a progressive, neurodegenerative disorder that damages your brain and other tissues in your body. A series of symptoms usually appear during childhood and into adulthood. Diabetes and vision changes before …
Wolfram syndrome | About the Disease | GARD - Genetic and …
Wolfram syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.
Wolfram Syndrome
Wolfram syndrome is an inherited condition that typically includes childhood-onset insulin-dependent diabetes mellitus and progressive optic atrophy. In addition, many people with Wolfram syndrome also develop diabetes insipidus, sensorineural hearing loss and autonomic nervous system degeneration.
Wolfram Syndrome: Diagnosis, Management, and Treatment
Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing loss, and neurodegeneration.
Wolfram syndrome - MedlinePlus
Wolfram syndrome is a condition that primarily causes diabetes and vision loss. Explore symptoms, inheritance, genetics of this condition.
Orphanet: Wolfram syndrome
Estimated prevalence of Wolfram syndrome (WS) is 1/770,000 worldwide. 2 types of WS may be distinguished: type 1 (WS1) and type 2 (WS2). WS1 has onset in the first decade, with DM (91% of cases) and OA (87%) manifestations. Patients present a progressive reduction of visual acuity and loss of color vision.
Wolfram syndrome - NIH Genetic Testing Registry (GTR) - NCBI
Clinical resource with information about Wolfram syndrome and its clinical features, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, PharmGKB
Wolfram syndrome, a rare neurodegenerative disease: from pathogenesis ...
Wolfram syndrome (WS) is an autosomal recessive disorder characterized by diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), a gradual loss of vision caused by optic atrophy (OA), deafness (D; hence the acronym: DI DM OA D), and neurological signs.
Wolfram syndrome: for patients - Gene Vision
2024年12月14日 · Wolfram syndrome is a rare genetic disorder that affects multiple systems in the body, including the eyes, pancreas, and nervous system. It is characterised by a combination of symptoms that can significantly impact a person’s quality of life.