Hereditary disease: Urolithiasis

Urolithiasis
220150
203500
259900
260000
278300
145001
102600

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Urolithiasis

Clinical feature:

Definition: Heraditary Disorders that lead to urolithiasis are listed on this page.

Systematic link table:

Hereditary kidney diseases
	Congenital abnormalities of the kidney and urinary tract
	Cystic kidney disease
	Disorders of tubular solute transport
	Hereditary glomerular disease
	Hereditary renal tumors
	Interstitial kidney disease
	Kidney disease appearing as endocrinological disorders
	Thrombotic microangiopathies
	Urolithiasis
		Cystinuria
			SLC3A1
			SLC7A9
		Dihydroxyadenin urolithiasis
			APRT
		Hyperuricemic nephropathy
			Hyperuricemic nephropathy, familial juvenile 1
				UMOD
			Hyperuricemic nephropathy, familial juvenile 2
				REN
			Kelley-Seegmiller syndrome
				HPRT1
			Lesch-Nyhan syndrome
				HPRT1
			Renal Hypouricemia
				SLC22A12
		Nephrocalcinosis

				CYP24A1
			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
			Dent disease
				CLCN5
				OCRL1
			Hereditary Rickets
				Autosomal recessive hypophosphatemic rickets type 1
					DMP1
				Autosomal recessive hypophosphatemic rickets type 2
					ENPP1
				Dent disease
					CLCN5
					OCRL1
				Lowe disease
					OCRL1
				Vitamin D hydroxylation-deficient rickets type 1A
					CYP27B1
				Vitamin D hydroxylation-deficient rickets type 1B
					CYP2R1
				Vitamin D-dependent rickets, type 2A
					VDR
				Vitamin D-dependent rickets, type 2B
					RXRA
				autosomal dominant hypophosphatemic rickets
					FGF23
				x-linked dominant hypophosphatemic rickets
					PHEX
			Hyperoxaluria
				Hyperoxaluria type I
					AGXT
				Hyperoxaluria type II
					GRHPR
			Hypomagnesemia with hypercalciuria and nephrocalcinosis
				CLDN16
			Hypomagnesemia with hypercalciuria and nephrocalcinosis with ocular involvement
				CLDN19
			Lowe disease
				OCRL1
			Renal tubular acidosis
				ATP6V0A4
				ATP6V1B1
				CA2
				SLC4A1
				SLC4A4
		Nephrolithiasis diarrhea syndrome
			SLC26A6

Literature:

Lehmann-Horn F et al. (1999) Voltage-gated ion channels and hereditary disease.
Thakker RV et al. (2000) Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis.