Table 5.

Nephrolithiasis. The leading diagnostic features are renal calculi or nephrocalcinosis.

NEPHROLITHIASIS	OMIM No.	MOI	Characteristic signs and features	Gene symbol, gene product
Cystinuria, type 1	#220100	AR	Cystin calculi	CSNU1, SLC3A1 amino acid transporter
Cystinuria, non-type 1	#604144	AR	Cystin calculi	SLC7A9, amino acid transporter
Dent disease	#300009	XR	NL, NC, renal Fanconi syndrome	CLCN5, renal Cl-Channel
Primary hyperoxaluria type 1	#259900	AR	NL, CKD	AGXT, Ala-glyoxylate aminotransferase
Primary hyperoxaluria type 2	#260000	AR	NL	GRHPR, glyoxylate reductase
Lysinuric protein intolerance	#222700	AD	NL, phosphate wasting, osteopenia	SLC9A3R1, NHERF1
Adenine-phosphoribosyl-transferase deficiency	#102600	AR	NL	APR5, adenine phosphoribosyl transferase
Xanthinuria	#278300	AR	NL, xanthine calculi	XHD, xanthin dehydrogenase
Distal renal tubular acidosis	#179800	AD	NL, ricketts	SLC4A1, RTA

AD=autosomal dominant, AR=autosomal recessive, NC=nephrocalcinosis, NL=nephrolithiasis, RTA=renal tubular acidosis, XR=X-linked recessive