Disorders of tubular solute transport

This page summarizes hereditary disturbances in tubular function.

Systematic

Hereditary kidney diseases
	Congenital abnormalities of the kidney and urinary tract
	Cystic kidney disease
	Disorders of tubular solute transport
		Genetic disorders of proximal tubular function
			Endocytotic disturbances of proximal tubular function
				Donnai-Barrow syndrome
					LRP2
				Imerslund-Grasbeck syndrome
					AMN
					CUBN
			Fanconi renotubular syndrome
				Autosomal dominant idiopathic Fanconi syndrome
					HNF4A
				Fanconi renotubular syndrome 1
				Fanconi renotubular syndrome 2
					SLC34A1
				Fanconi renotubular syndrome 3
					EHHADH
			Metabolic disturbances of proximal tubular function
				Cystinosis
					CTNS
				Dent disease
					CLCN5
					OCRL
				Fanconi renotubular syndrome
					Autosomal dominant idiopathic Fanconi syndrome
						HNF4A
					Fanconi renotubular syndrome 1
					Fanconi renotubular syndrome 2
						SLC34A1
					Fanconi renotubular syndrome 3
						EHHADH
				Fanconi-Bickel syndrome
					SLC2A2
				Fructose intolerance
					ALDOB
				Galactosemia
					GALT
				Glycogen storage disease 1
					Glycogen storage disease 1A
						G6PC
					Glycogen storage disease 1B
						SLC37A4
					Glycogen storage disease 1C
						SLC37A4
				Hepatorenal tyrosinemia
					FAH
				Lowe disease
					OCRL
				MELAS syndrome
					EHHADH
					ND1
					ND5
					ND6
					TRNC
					TRNH
					TRNK
					TRNQ
					TRNS1
					TRNS2
				Wilson disease
					ATP7B
			Specific disturbances of proximal tubular transport
				Aminoaciduria
					Cystinuria
						SLC3A1
						SLC7A9
					Dicarboxylic aminoaciduria
						SLC1A1
					Erythrocyte lactate transporter defect
						SLC16A1
					Fanconi renotubular syndrome
						Autosomal dominant idiopathic Fanconi syndrome
							HNF4A
						Fanconi renotubular syndrome 1
						Fanconi renotubular syndrome 2
							SLC34A1
						Fanconi renotubular syndrome 3
							EHHADH
					Fanconi-Bickel syndrome
						SLC2A2
					Hartnup disorder
						SLC6A19
					Hyperglycinuria
						SLC36A2
						SLC6A19
						SLC6A20
					Iminoglycinuria
						SLC36A2
						SLC6A19
						SLC6A20
					Lysinuric protein intolerance
						SLC7A7
					Monocarboxylate transporter 1 deficiency
						SLC16A1
					SLC36A1
					SLC3A2
					SLC6A18
					SLC7A8
				Disorders of the renal phosphate transporters
					Hypophosphatemic rickets with hypercalciuria
						SLC34A3
					Idiopathic basal ganglia calcification 1
						SLC20A2
					Nephrolithiasis/osteoporosis, hypophosphatemic, 1
						SLC34A1
					Nephrolithiasis/osteoporosis, hypophosphatemic, 2
						SLC9A3R1
				Monosacchariduria
					Fructosuria
						KHK
					Glucose-Galactose Malabsorption
						SLC5A1
					Renal Glucosuria
						SLC5A2
				Proximal renal tubular acidosis
					SLC4A4
				Renal Hypouricemia
					SLC22A12
					SLC2A9
		Hereditary Salt-wasting tubulopathies
			Bartter syndrome
				Antenatal Bartter syndrome type 1
					SLC12A1
				Antenatal Bartter syndrome type 2
					KCNJ1
				Classic Bartter syndrome
					CLCNKB
				Hypercalciuric hypocalcemia 1
					CASR
				Hypercalciuric hypocalcemia 2
					GNA11
				Infantile Bartter syndrome with deafness type 4
					BSND
					CLCNKA
					CLCNKB
				Transient antenatal Bartter syndrome
					MAGED2
			EAST syndrome
				KCNJ10
			Gitelman syndrome
				SLC12A3
			Hypomagnesemia
				EGFR
				Gitelman syndrome
					SLC12A3
				Hereditary myokymia type 1
					KCNA1
				Hypomagnesemia with hypercalciuria and nephrocalcinosis
					CLDN16
				Hypomagnesemia with hypercalciuria and nephrocalcinosis with ocular involvement
					CLDN19
				Hypomagnesemia with normocalciuria
					EGF
				Intestinal hypomagnesemia with secondary hypocalcemia
					TRPM6
				Isolated dominant hypomagnesemia
					FXYD2
				Renal cysts and diabetes (RCAD)
					HNF1B
				Renal hypomagnesemia 6
					CNNM2
				TRPM7
		Inherited disorders of calcium balance
			Familial hypocalciuric hypercalcemia type 1
				CASR
			Familial hypocalciuric hypercalcemia type 2
				GNA11
			Familial hypocalciuric hypercalcemia type 3
				AP2S1
			Hypophosphatasia
				Adult hypophosphatasia
					ALPL
				Childhood hypophosphatasia
					ALPL
				Infantile hypophosphatasia
					ALPL
				Odontohypophosphatasia
					ALPL
			Infantile hypercalcemia
				CYP24A1
		Liddle syndrome
			NEDD4
			NEDD4L
			NR3C2
			OXSR1
			SCNN1B
			SCNN1G
			STK39
		Nephrogenic diabetes insipidus
			AQP2
			AVPR2
		Pseudohypoaldosteronism
			Pseudohypoaldosteronism type 2
				CUL3
				KLHL3
				WNK1
				WNK4
			Pseudohypoaldosteronism type1
				NR3C2
				SCNN1A
				SCNN1B
				SCNN1G
		Renal tubular acidosis
			Combined renal tubular acidosis 3 with osteopetrosis 3
				CA2
			Distal renal tubular acidosis (autosomal dominant)
				SLC4A1
			Distal renal tubular acidosis (autosomal recessive)
				ATP6V0A4
			Distal renal tubular acidosis with deafness (autosomal recessive)
				ATP6V1B1
			Proximal renal tubular acidosis
				SLC4A4
			Renal tubular acidosis with arthrogryposis
				Arthrogryposis, renal dysfunction, and cholestasis 1
					VPS33B
				Arthrogryposis, renal dysfunction, and cholestasis 2
					VIPAS39
	Hereditary glomerular disease
	Hereditary metabolic kidney disease
	Hereditary renal tumors
	Interstitial kidney disease
	Kidney disease appearing as endocrinological disorders
	Thrombotic microangiopathies
	Urolithiasis

References:

1.	None (2001) Molecular pathophysiology of tubular transport disorders. [^]

Update: April 29, 2019