| SPTLC1/2 mutations | Alter serine palmitoyltransferase activity, affecting lipid metabolism |
| TRPV1 mutations | Impair pain and temperature sensing channels |
| SCN9A/10A/11A mutations | Affect sodium channel function in pain signaling |
| NGF mutations | Impair neurotrophic support for sensory neurons |
| ELP1 mutations | Affect tRNA modification and transcriptional regulation |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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