Table 3.

Zinc transporter mutations reported to be involved in inherited diseases.

Gene	Disease	MIM No.	Clinical Features	Pattern of Inheritance	References
SLC39A4/ZIP4	Acrodermatitis enteropathica (AE)	201100	Eczematous dermatitis on the perioral, perianal, and areas, alopecia, diarrhea, growth retardation because of decreased zinc absorption, Ameliorated with zinc supplementation.	Homozygous, Compound heterozygous, Dominant negative	[99,100,101,153,154]
SLC39A5/ZIP5	Nonsymptomatic high myopia	615946	Refractive error, tigroid and focal atrophy of choroid.	Heterozygous	[105]
SLC39A8/ZIP8	Cerebellar Atrophy Syndrome, a type II congenital disorder of glycosylation (CDG)	-	Intellectual disability, cerebellar atrophy, cranial asymmetry, dysproportionate dwarfism, severe infantile spasms with hypsarrhythmia, hypotonia, strabismus.	Homozygous, Compound heterozygous	[111,112]
SLC39A13/ZIP13	spondylocheiro dysplastic Ehlers-Danlos syndrome (SCD-EDS)	612350	Postnatal growth retardation, skeletal and connective tissue abnormalities, finger contractures, joint hypermobility, protruding eyes with bluish sclera, decreased hydroxyl collagen levels.	Homozygous	[114,115]
SLC30A2/ZnT2	Transient neonatal zinc deficiency (TNZD)	608118	Erosive dermatitis around the mouth, genital region, neck, and fingers, diarrhea, hair loss, alopecia, Ameliorated with zinc supplementation to infants.	Dominant negative, Heterozygous, Compound heterozygous	[121,122,123,124,125]
SLC30A3/ZnT3	Increased risk of febrile seizures	-	Potentially a prelude to more severe epilepsy.	Heterozygous	[131]
SLC30A10/ZnT10	Hypermanganesemia, syndrome of hepatic cirrhosis, dystonia, polycythemia	613280	Dysarthria, hypertonia, fine tremor, bradykinesia, spastic paraparesis, Improved by metal chelation therapy.	Homozygous	[149,150]