eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | tuberous sclerosis |
| Symptom | C0004352|autism |
| Sentences | 6 |
| PubMedID- 26048361 | tuberous sclerosis (tsc) is associated with autism spectrum disorders and has been linked to metabolic dysfunction and unrestrained signaling of the mammalian target of rapamycin (mtor). |
| PubMedID- 21701991 | Known cases of mr involving inability to accurately interpret an outside source or stimuli are: fragile-x syndrome; tuberous sclerosis complex (tsc) with associated autism spectrum disorder (asd); rett syndrome; autism and asd with or without mr; chromosome 22q13.3 deletion syndrome; familial dysautonomia, prader-willi's syndrome, williams syndrome. |
| PubMedID- 22327361 | Tubers are cerebral cortical developmental malformations associated with epilepsy and autism in tuberous sclerosis complex (tsc). |
| PubMedID- 22661408 | Impaired language pathways in tuberous sclerosis complex patients with autism spectrum disorders. |
| PubMedID- 25254170 | Potential for treatment of severe autism in tuberous sclerosis complex. |
| PubMedID- 24822087 | tuberous sclerosis complex is also associated with autism spectrum disorder (asd). |
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