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Figure 1 from PMID:41890637
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paper figure
Created: 2026-04-13T06:15:46
By: unknown
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ID: paper-figure-41890637-1
Figure 1Figure 1
Relationship between syndromic and non-syndromic ASD and their genetic underpinnings. The left circle represents syndromic ASD, where autism spectrum disorder (ASD) symptoms occur as part of a broader clinical syndrome. Examples include Angelman syndrome (UBE3A), Rett syndrome (MECP2), Fragile X syndrome (FMR1), Phelan-McDermid syndrome (SHANK3), and Tuberous Sclerosis Complex (TSC1, TSC2). In these cases, ASD is considered a component of the syndrome. The right circle represents non-syndromic ASD, characterized by isolated ASD without additional syndromic features. High-risk genes associated with non-syndromic ASD include CNTNAP2, GRIN2B, CHD8, SCN2A, PTEN, and SHANK3. Notably, SHANK3 mutations can also occur in ASD patients without Phelan-McDermid syndrome, indicating that a single gene mutation may lead to ASD alone. The overlapping region highlights shared molecular pathways, such as synapse formation, synaptic pruning, and ubiquitination, demonstrating that different genetic backg
▸Metadata
| pmid | 41890637 |
| pmc_id | PMC13013429 |
| caption | Relationship between syndromic and non-syndromic ASD and their genetic underpinnings. The left circle represents syndromic ASD, where autism spectrum disorder (ASD) symptoms occur as part of a broader |
| image_url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13013429/figure/F1/ |
| figure_label | Figure 1 |
| figure_number | 1 |
| _schema_version | 1 |
📊 Evidence Profile
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