Table 2.

Human genes responsible for monogenic disorders featuring pathological pain or insensitivity to pain

Disorder^a	OMIM^b	Linkage	Gene	Protein	Reference
*Pathological pain*
FHM type I	141500	19p13	CACNA1A	Cav2.1 calcium channel	(195)
FHM type II	602481	1q21	ATP1A2	α₂ subunit, Na⁺,K⁺-ATPase	(196)
FHM type III	609634	2q24	SCN1A	Nav1.1 sodium channel	(197)
FMF	249100	16p13	MEFV	Pyrin	(198)
HNA	162100	17q25	SEPT9	Septin 9	(199)
PE	133020	2q24	SCN9A	Nav1.7 sodium channel	(148)
PEPD	167400	2q24	SCN9A	Nav1.7 sodium channel	(149)
*Congenital insensitivity to pain*
CIDP	243000	2q24	SCN9A	Nav1.7 sodium channel	(146)
HSAN type I	162400	9q22	SPTLC1	Serine palmitoyltransferase, long chain 1	(200, 201)
HSAN type II	201300	12p13	HSN2	Unknown	(202)
HSAN type III	223900	9p31	IKBKAP	IKK-complex associated protein	(203, 204)
HSAN type IV	256800	1q21	NTRK1	Neurotrophic tyrosine kinase receptor	(205)
HSAN type V	608654	1p13	NGFB	Nerve growth factor, β	(206)

CIDP: congenital indifference to pain (autosomal recessive); FHM: familial hemiplegic migraine; FMF: familial Mediterranean fever; HNA: hereditary neuralgic amyotrophy; HSAN: hereditary sensory and autonomic neuropathy; PE: primary erythromelalgia (primary erythermalgia); PEPD: paroxysmal extreme pain disorder (familial rectal pain).

Online Mendelian Inheritance in Man entry number (http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim).