eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | wolfram syndrome |
| Comorbidity | C0043207|wolfram syndrome |
| Sentences | 4 |
| PubMedID- 21968327 | Many mutations have been described since the identification of wfs1 as the cause of wolfram syndrome. |
| PubMedID- 23650218 | Rare mutations in the wfs1 gene lead to wolfram syndrome, a severe multisystem disorder with progressive neurodegeneration and diabetes mellitus causing life-threatening complications and premature death. |
| PubMedID- 22662265 | Recessive mutations in wfs1 can lead to wolfram syndrome (omim #222300), which includes diabetes, hearing impairment and psychiatric disease, while heterozygous carriers appear to show no major symptoms associated with diabetes. |
| PubMedID- 21886777 | Defects in wfs1 are the cause of wolfram syndrome (wfs) also known as diabetes insipidus and mellitus with optic atrophy and deafness syndrome [26], [27]. |
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