Table 1.
Genes found mutated in patients with syndromes characterized by painful manifestations or painlessness
| Gene | OMIM gene ID | Disease | OMIM disease ID | Inheritance | Pain-related manifestation |
| CSNK1D | *600864 | FASPS2 | #615224 | AD | Migraine with/without aura |
| TRPA1 | *604775 | FEPS1 | #615040 | AD | Episodic pain in the upper body |
| SCN10A | *604427 | FEPS2 | #615551 | AD | Episodic burning pain affecting distal lower extremities and hands; Hyperalgesia |
| SCN11A | *604385 | FEPS3 | #615552 | AD | Episodic pain localized to the distal extremities |
| HSAN7 | #615548 | AD | Insensitivity to pain | ||
| SCN9A | *603415 | Primary erythermalgia | #133020 | AD | Painful episodic reddish skin discoloration; Myalgia; Episodic burning pain in the hands and feet; itching |
| CIP | #243000 | AR | Painless fractures; Distal painless ulcers; Isolated absence of pain sensation | ||
| Paroxysmal extreme pain disorder | #167400 | AD | Episodic mandibular and submandibular pain triggered by eating and yawning; Episodic ocular pain; Episodico rectal pain triggered by defecation; Painful micturition; Episodic reddish discoloration associated with pain; Episodic skin flushing associated with pain; Episodic burning pain | ||
| NLRP3 | *606416 | FCAS1 | #120100 | AD | Episodic arthralgia; Episodic myalgia; Episodic headache |
| NLRP12 | *609648 | FCAS2 | #611762 | AD | Episodic abdominal pain; Episodic arthralgias; Episodic arthritis; Episodic myalgia; Episodic headache |
| NLRC4 | *606831 | FCAS4 | #616115 | AD | Episodic arthralgia |
| NTRK1 | *191315 | CIPA | #256800 | AR | Diffuse pain insensitivity (including visceral pain) |
| ZFHX2 | *617828 | MARSIS | #147430 | AD | Painless fractures; Painless cutaneous thermal burns; Pain insensitivity |
| SPTLC1 | *605712 | HSAN1A | #162400 | AD | Distal painless ulcers due to sensory neuropathy; Distal sensory loss of pain; Sharp, lightning-like pain |
| SPTLC2 | *605713 | HSAN1C | #613640 | AD | Distal painless ulcers due to sensory neuropathy; Distal sensory loss of pain |
| WNK1 | *605232 | HSAN2A | #201300 | AR | Painless fractures due to injury; Impaired pain sensation in distal extremities |
| FAM134B | *613114 | HSAN2B | #613115 | AR | Impaired pain sensation in distal extremities |
| ELP1 | *603722 | HSAN3 | #223900 | AR | Decreased pain perception |
| NGF | *162030 | HSAN5 | #608654 | AR | Distal pain insensitivity |
| DST | *113810 | HSAN6 | #614653 | AR | Decreased pain response |
| PRDM12 | *616458 | HSAN8 | #616488 | AR | Recurrent infections due to painless trauma and ulceration; Ulcerating painless lesions of distal extremities, tongue, lips; Insensitivity to pain |
| ATL1 | *606439 | HSN1D | #613708 | AD | Distal painless ulcers due to sensory neuropathy; Distal sensory loss of pain; Occasional lancinating pain |
| DNMT1 | *126375 | HSN1E | #614116 | AD | Sensory neuropathy affecting pain sensation in the lower/upper limbs; Occasional lancinating pain |
| ATL3 | *609369 | HSN1F | #615632 | AD | Distal painless ulcers due to sensory neuropathy; Distal sensory impairment to pain |
| KIF1A | *601255 | HSN2C | #614213 | AR | Ulceration and amputation of fingers and toes due to sensory loss; Panmodal distal sensory loss; Spontaneous pain |
| ATP1A2 | *182340 | FHM2 | #602481 | AD | Migraine with/without aura |
| CACNA1A | *601011 | FHM1 | #141500 | AD | Migraine with/without aura |
| KCNK18 | *613655 | MGR13 | #613656 | AD | Migraine headache with/without visual aura, lateralized or holocranial headache |
| PRRT2 | *614386 | BFIS2 | #605751 | AD | Migraine |
| SCN1A | *182389 | FHM3 | #609634 | AD | Migraine with/without aura |
| SLC2A1 | *138140 | DYT9 | #601042 | AD | Migraine, headache |
FASPS = familial advanced sleep phase syndrome; FEPS = familial episodic pain syndrome; FCAS = familial cold autoinflammatory syndrome; CIP = congenital autosomal recessive indifference to pain; CIPA = congenital insensitivity to pain with anhidrosis; MARSIS = Marsili syndrome; HSAN = hereditary sensory and autonomic neuropathy; HSN = hereditary sensory neuropathy.