Inherited Disorders Affecting Renal Tubular Ion and Solute Transport

Disease or Syndrome	Gene	OMIMa
Disorders Involving the Proximal Tubule
Proximal renal tubular acidosis	Sodium bicarbonate co-transporter
	(SLC4A4, 4q21)	604278
Faconi-Bickel syndrome	Glucose transporter-2
	(SLC2A2 3q26.1-q26.3)	227810
Isolated renal glycosuria	Sodium glucose co-transporter
	(SLC5A2,16p11.2)	233100
Cystinuria, type I	Cystine, dibasic and neutral amino acid transporter
	(SLC3A1, 2p16.3)	220100
Cystinuria, non-type I	Amino acid transporter, light subunit
	(SLC7A9, 19q13.1)	600918
Lysinuric protein intolerance	Amino acid transporter
	(SLC7A7, 4q11.2)	222700
Hereditary hypophosphatemic rickets with hypercalcemia	Sodium phosphate co-transporter	241530
	(SLC34A3, 9q34)
Renal hypouricemia	Urate-anion exchanger
	(SLC22A12, 11q13)	220150
Dent disease	Chloride channel, ClC-5
	(CLCN5, Xp11.22)	300009
X-linked recessive nephrolithiasis with renal failure	Chloride channel, ClC-5	310468
	(CLCN5, Xp11.22)
X-linked recessive hypophosphatemic rickets	Chloride channel, ClC-5	307800
	(CLCN5, Xp11.22)
Disorders Involving the Loop of Henle
Bartter syndrome, type 1	Sodium potassium-chloride co-transporter
	(SLC12A1,15q15-q21)	241200
Bartter syndrome, type 2	Potassium channel, ROMK
	(KCNJ1, 11q24)	601678
Bartter syndrome, type 3	Chloride channel, ClC-Kb
	(CLCNKB, 1p36)	602023
Bartter syndrome with sensorineural deafness	Chloride channel accessory subunit, barttin
	(BSND, 1p31)	602522
Autosomal dominant hypocalcemia with Bartter-like syndrome	Calcium-sensing receptor
	(CASR, 3q13.3-q21)	601199
Familial hypocalciuric hypercalcemia	Calcium-sensing receptor
	(CASR, 3q13.3-q21)	145980
Primary hypomagnesemia	Claudin-16 or paracellin-1
	(CLDN16 or PCLN1, 3q27)	248250
Isolated renal magnesium loss	Sodium potassium ATPase, 1-subunit
	(ATP1G1, 11q23)	154020
Primary hypomagnesemia with secondary hypocalcemia	Melastatin-related transient receptor potential cation channel 6
	(TRPM6, 9q22)	602014
Disorders Involving the Distal Tubule and Collecting Duct
Gitelman's syndrome	Sodium-chloride co-transporter
	(SLC12A3, 16q13)	263800
Pseudoaldosteronism (Liddle's syndrome)	Epithelial sodium channel and subunits
	(SCNN1B, SCNN1G, 16p13-p12)	177200
Recessive pseudohypoaldosteronism type 1	Epithelial sodium channel, , , and subunits
	(SCNN1A, 12p13; SCNN1B, SCNN1G, 16p13-p12)	264350
Pseudohypoaldosteronism type 2 (Gordon hyperkalemia-hypertension syndrome)	Kinases WNK-1, WNK-4
	(WNK1, 12p13; WNK4, 17q21-q22)	145260
X-Linked nephrogenic diabetes insipidus	Vasopressin V2 receptor
	(AVPR2, Xq28)	304800
Nephrogenic diabetes insipidus (autosomal)	Water channel, aquaporin-2
	(AQP2, 12q13)	125800
Distal renal tubular acidosis, autosomal dominant	Anion exchanger-1
	(SLC4A1, 17q21-q22)	179800
Distal renal tubular acidosis, autosomal recessive	Anion exchanger-1
	(SLC4A1, 17q21-q22)	602722
Distal renal tubular acidosis with neural deafness	Proton ATPase, 1 subunit
	(ATP6B1,2cen-q13)	192132
Distal renal tubular acidosis with normal hearing	Proton ATPase, 116-kD subunit
	(ATP6N1B, 7q33-q34)	602722