Create issue ticket

1,202 Possible Causes for Wolfram Syndrome

  • Wolfram Syndrome

    Wolfram syndrome is a condition that affects many of the body's systems.[ghr.nlm.nih.gov] Two genetic forms have been described: Wolfram syndrome 1 (WFS1), and Wolfram syndrome 2 (WFS2).[en.wikipedia.org] Unfortunately, most patients die suffering from Wolfram syndrome at a median age of 30 years.[symptoma.com]

  • Diabetes Insipidus

    Genetic neurohypophyseal diabetes insipidus occurring in the context of diabetes mellitus, optic atrophy, and deafness is termed DIDMOAD or Wolfram syndrome, a genetically[ncbi.nlm.nih.gov] CDI may also occur as part of a larger syndrome or disorder including Wolfram syndrome or septo-optic dysplasia.[web.archive.org] syndrome.[bestpractice.bmj.com]

  • Maternally-Inherited Diabetes and Deafness

    Wolfram syndrome. Rev Endocr Metab Disord. 2003 Mar;4(1):53-9. PMID: 12618560 Rigoli L, Di Bella C. Wolfram syndrome 1 and Wolfram syndrome 2.[rarediseases.org] PURPOSE: To evaluate the pattern of choriocapillaris signal voids in maternally inherited diabetes and deafness and in pseudoxanthoma elasticum in eyes before the development[ncbi.nlm.nih.gov] Based on the triad of Maternal Inheritance, Diabetes and Deafness we propose the name Maternally Inherited Diabetes and Deafness (MIDD) for this syndrome.[ncbi.nlm.nih.gov]

  • Optic Atrophy

    Wolfram syndrome In Wolfram syndrome, there is probably a direct relationship between diabetes and optic nerve atrophy.[wolframsyndrome.dom.wustl.edu] We identified 45 patients with Wolfram syndrome, median age 29 years.[ncbi.nlm.nih.gov] Since the discovery of the association between WFS1 gene and Wolfram syndrome, more than 150 mutations have been identified in WS patients.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Optic Atrophy

    , Jensen syndrome, Opticoacoustic nerve atrophy with dementia XL 11 21 TMEM126A Optic atrophy AR 3 1 WFS1 Wolfram syndrome, Deafness, Wolfram-like syndrome, autosomal dominant[blueprintgenetics.com] Mutations in the WFS1 gene, at 4p16.3, are associated with either optic atrophy (OA) as part of the autosomal recessive Wolfram syndrome or with autosomal dominant progressive[ncbi.nlm.nih.gov] syndrome (DIDMOAD) may cause mitochondrial dysfunction and optic atrophy. mRNA messenger RNA; mtDNA mitochondrial DNA;oxphos oxidative phosphorylation.[eyewiki.aao.org]

  • Autosomal Dominant Optic Atrophy and Cataract

    Congenital cataracts in two siblings with Wolfram syndrome. Ophthalmic Genet. 2010;31(4):227-229. Viswanathan V, Medempudi S, Kadiri M. Wolfram syndrome.[healio.com] Registry Wolfram-Like Syndrome, Autosomal Dominant.[ukgtn.nhs.uk] This syndrome has a discrete pathophysiology and differs genetically and clinically from recessive Wolfram syndrome. Received October 25, 2016.[diabetes.diabetesjournals.org]

  • Deafness, Autosomal Dominant 23

    syndromes.[morl.lab.uiowa.edu] WFS1 Wolfram syndrome,222300 WFS1 Wolfram-like syndrome,autosomal dominant,614296 نشانی مطلب در وبگاه شرکت سهامی خاص ژن کاوش آزما: برگشت به اصل مطلب[gsdseq.ir] WFS1 Wolfram syndrome,222300 WFS1 Wolfram-like syndrome,autosomal dominant,614296[gsdseq.ir]

  • Central Diabetes Insipidus

    syndrome.[ncbi.nlm.nih.gov] Since the discovery of the association between WFS1 gene and Wolfram syndrome, more than 150 mutations have been identified in WS patients.[ncbi.nlm.nih.gov] Wolfram Syndrome (also called DIDMOAD) is characterised by DI, diabetes mellitus nerve deafness and optic atrophy.[en.wikipedia.org]

  • Autosomal Recessive Isolated Optic Atrophy

    Keywords Optic Neuropathy Optic Atrophy Nijmegen Breakage Syndrome Wolfram Syndrome Dominant Optic Atrophy These keywords were added by machine and not by the authors.[link.springer.com] , Jensen syndrome, Opticoacoustic nerve atrophy with dementia XL 11 21 TMEM126A Optic atrophy AR 3 1 WFS1 Wolfram syndrome, Deafness, Wolfram-like syndrome, autosomal dominant[blueprintgenetics.com] Biallelic variants in WFS1 are associated with optic atrophy as part of the autosomal recessive Wolfram syndrome.[blueprintgenetics.com]

  • Megaloblastic Anemia

    Previously unreported olfactory abnormalities, as described in Wolfram syndrome, were also present in our patient.[ncbi.nlm.nih.gov] KEYWORDS: Alström syndrome; Monogenic diabetes; Thiamine-responsive megaloblastic anemia syndrome; Wolfram syndrome; genotype-phenotype analysis; locus-specific database[ncbi.nlm.nih.gov] These features initially suggested a clinical diagnosis of Wolfram syndrome (WS). Therapy with thiamine was initiated which resulted in the resolution of the anemia.[ncbi.nlm.nih.gov]

Further symptoms