Table 1.

Nucleoside transporter genetic variants and associated diseases.

Syndrome	Gene (Location)	Protein	Variant	Heredity	Clinical Features	Reference
Augustine-null blood type	SLC29A1 (6p21.1)	hENT1	c.1171G>A (p.E391K)	-	Rare blood type (Ata)	[43]
			c.589+1G>C	AR	Atnull—progressive ectopic calcification of bone joints	[43,45]
Histiocytosis- lymphadenopathy plus syndrome (OMIM #602782) entry 3	SLC29A3 (10q22.1)	hENT3	p.G427S p.G437R c.1045delC	AR	H syndrome: hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height and hyperglycemia	[57]
			p.M116R c.940delT p.G437R p.E444X p.T449R	AR	Pigmented hypertrichotic dermatosis insulin-dependent diabetes (PHID)	[53]
			c.300+1G>A	AR	Faisalabad histiocytosis (FH)	[54]
			p.G437R	AR	Familial Rosai-Dorfman disease (RDD)	[54]
			p.G437R p.F103X	AR	Familial sinus histiocytosis with massive lymphadenopathy (SHML)	[62]
			p.S203P;R386Q p.T449R	AR	Dysosteosclerosis (osteoporosis)	[54]
Uridine-cytidineuria, URCTU (OMIM #618477)	SLC28A1 (15q25.3)	hCNT1	p.R510C;R561Q	CH	Uridine-cytidineuria	[63]
			p.S564P	AR	Elevated urinary excretion of uridine and cytidine	[64]

AR, autosomal recessive; CH, compound heterozygosity.