Hereditary disease: Disorders of tubular solute transport

Disorders of tubular solute transport
248250
300009
227810
267300
600918

Pedigree

Diagnostic
strategy

Forms

Print page

Sprache
wechseln

Disorders of tubular solute transport

Clinical feature:

Definition: This page summarizes hereditary disturbances in tubular solute transport.

Systematic link table:

Hereditary kidney diseases
	Congenital abnormalities of the kidney and urinary tract
	Cystic kidney disease
	Disorders of tubular solute transport
		Aminoaciduria
			Cystinosis
				CTNS
			Cystinuria
				SLC3A1
				SLC7A9
			Fanconi-Bickel syndrome
				SLC2A2
			Lysinuric protein intolerance
				SLC7A7
		Hereditary Salt-wasting tubulopathies
			Bartter syndrome
				Antenatal Bartter syndrome type 1
					SLC12A1
				Antenatal Bartter syndrome type 2
					KCNJ1
				Classic Bartter syndrome
					CLCNKB
				Infantile Bartter syndrome with deafness type 4
					BSND
					CLCNKA
					CLCNKB
			EAST syndrome
				KCNJ10
			Gitelman syndrome
				SLC12A3
			Hypomagnesemia
				EGFR
				TRPM7
				Gitelman syndrome
					SLC12A3
				Hypomagnesemia with hypercalciuria and nephrocalcinosis
					CLDN16
				Hypomagnesemia with hypercalciuria and nephrocalcinosis with ocular involvement
					CLDN19
				Hypomagnesemia with normocalciuria
					EGF
				Hypomagnesemia with secondary hypocalcemia
					TRPM6
				Isolated dominant hypomagnesemia
					FXYD2
		Hyperphosphaturia
			Autosomal recessive hypophosphatemic rickets type 1
				DMP1
			Autosomal recessive hypophosphatemic rickets type 2
				ENPP1
			Dent disease
				CLCN5
				OCRL1
			Lowe disease
				OCRL1
			autosomal dominant hypophosphatemic rickets
				FGF23
			x-linked dominant hypophosphatemic rickets
				PHEX
		Liddle syndrome
			NEDD4
			NEDD4L
			NR3C2
			SCNN1B
			SCNN1G
		Lowe disease
			OCRL1
		Monosacchariduria
			Fanconi-Bickel syndrome
				SLC2A2
			Glucose-Galactose Malabsorption
				SLC5A1
			Renal Glucosuria
				SLC5A2
		Nephrogenic diabetes insipidus
			AQP2
			AVPR2
		Pseudohypoaldosteronism
			Pseudohypoaldosteronism type 2
				WNK1
				WNK4
			Pseudohypoaldosteronism type1
				NR3C2
				SCNN1A
				SCNN1B
				SCNN1G
		Renal Hypouricemia
			SLC22A12
		Renal tubular acidosis
			ATP6V0A4
			ATP6V1B1
			CA2
			SLC4A1
			SLC4A4
	Hereditary glomerular disease
	Hereditary renal tumors
	Interstitial kidney disease
	Kidney disease appearing as endocrinological disorders
	Thrombotic microangiopathies
	Urolithiasis

Literature:

Zelikovic I et al. (2001) Molecular pathophysiology of tubular transport disorders.