Table 1.

Human diseases caused by mutations in TRP channels

Channel	Functional effect	Disease	Reference:
TRPC6	Gain of function	Focal Segmental Glomerulosclerosis	[18]
TRPV3	Gain of function	Olmsted Syndrome (skin disorder)	[20]
TRPV4	Gain of function	Brachyolmia type 3	[27]
TRPV4	Gain of function	Spondylometaphyseal dysplasia, metatropic dysplasia	[28]
TRPV4	Gain of function	Congenital distal spinal muscular atrophy	[29]
TRPV4	Gain of function	Scapuloperoneal hereditary motor neuropathy	[30]
TRPV4	Loss of function	Hyponatremia	[31,33]
TRPV5	Loss of function	Kidney stones	[16,17]
TRPV6	Loss of function	Transient neonatal hyperparathyroidism (TNHP);	[12]
TRPV6	Loss of function	Early-Onset Chronic Pancreatitis	[14]
TRPV6	Gain of function	Kidney stones	[15]
TRPM1	Loss of function	Congenital Stationary Night Blindness	[6–8]
TRPM2	Loss of function	Western Pacific Amyotrophic Lateral Sclerosis (ALS) and Parkinsonism Dementia (PD)	[26]
TRPM3	Gain of function	Intellectual disability and epilepsy	[35–37,71]
TRPM4	Gain of function	Progressive familial heart block type I (PFHBI)	[22]
TRPM4	Gain of function	Progressive Symmetric Erythrokeratodermia	[21]
TRPM6	Loss of function	Hypomagnesemia with secondary hypocalcemia	[10,11]
TRPM7	Loss of function	Western Pacific Amyotrophic Lateral Sclerosis (ALS) and Parkinsonism Dementia (PD)	[25]
TRPA1	Gain of function	Familial Episodic Pain Syndrome	[5]
TRPML1	Loss of function	Mucolipidosis type IV	[23,24]
TRPP2	Loss of function	Autosomal dominant polycystic kidney disease (ADPKD)	[19]