Table 1.

Human diseases associated with mutations in PIKfyve, Vac14 and Fig4.

Disease	Affected gene	References
Charcot-Marie–Tooth type 4J (CMT4J)	Homozygous or heterozygous mutations leading to reduced Fig4 expression	[32,34,45,54, 55, 56]
Amyotrophic lateral sclerosis (ALS)	Mutations in Fig4	[34,57, 58, 59]
Primary lateral sclerosis (PLS)	Mutations in Fig4	[34,60]
Yunis–Varon syndrome	Homozygous null mutation in Fig4	[35,36]
Central nervous system white matter disorders	Mutations in Fig4	[37]
Syndrome with severe neurological and psychiatric symptoms	Homozygous point mutation in Fig4	[38]
Yunis–Varon syndrome	Biallelic Vac14 variants	[39]
Childhood onset striato-nigral degeneration	Mutations in Vac14	[40, 41, 42, 43, 44,46, 47, 48, 49]
Francois–Mouchetee Fleck corneal dystrophy	Mutations in PIKfyve	[50, 51, 52]
Congenital cataract	Mutation in PIKfyve	[53]