Table 1 Select Mendelian disorders from TRP channel family members
Gene NameInheritanceDisorder (MIM#, name)Affected TissuesProposed Genetic Mechanism
MCOLN1AR#252650, Mucolipidosis IVNeurologic, ocular, gastrointestinalLOF
TRPM1AR#613216, Night blindness, congenital stationary (complete), 1CPhotoreceptorsLOF
TRPM6AR#602014, Hypomagnesemia 1, intestinalGastrointestinalLOF
PKD2AD#613095, Polycystic kidney disease 2RenalLOF (haploinsufficiency)
TRPA1AD#615040, Episodic pain syndrome, familialPeripheral nervous systemGOF
TRPC3AD#616410, ?Spinocerebellar ataxia 41Central nervous systemToxic GOF
TRPC6AD#603965, Glomerulosclerosis, focal segmental, 2RenalGOF
TRPM4AD#604559, Progressive familial heart block, type IBCardiacGOF
TRPM7AD#105500, Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibilityCentral nervous systemModulation of function?
TRPV3AD#616400, ?palmoplantar keratodermaSkinGOF
#614594, Olmsted syndrome
TRPV4ADTwo spectra of Mendelian disorders- skeletal and neurologic (see text)Skeletal in one group, neurologic in another groupComplex (see text)
  • AR, Autosomal recessive; AD, autosomal dominant; LOF, loss of function; GOF, gain of function.