Urolithiasis

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

Systematic

Hereditary kidney diseases
	Congenital abnormalities of the kidney and urinary tract
	Cystic kidney disease
	Disorders of tubular solute transport
	Hereditary glomerular disease
	Hereditary metabolic kidney disease
	Hereditary renal tumors
	Interstitial kidney disease
	Kidney disease appearing as endocrinological disorders
	Thrombotic microangiopathies
	Urolithiasis
		Cystinuria
			SLC3A1
			SLC7A9
		Dicarboxylic aminoaciduria
			SLC1A1
		Dihydroxyadenin urolithiasis
			APRT
		Nephrocalcinosis
			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
			Dent disease
				CLCN5
				OCRL
			Hereditary Rickets
				Hypophosphatasia
					Adult hypophosphatasia
						ALPL
					Childhood hypophosphatasia
						ALPL
					Infantile hypophosphatasia
						ALPL
					Odontohypophosphatasia
						ALPL
				Hypophosphatemic bone and kindney disease
					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
					FGF23-induced hypophosphatemic rickets
						Autosomal dominant hypophosphatemic rickets
							FGF23
						Autosomal recessive hypophosphatemic rickets type 1
							DMP1
						Autosomal recessive hypophosphatemic rickets type 2
							ENPP1
						X-linked dominant hypophosphatemic rickets
							PHEX
					Fanconi-type hypophosphatemic rickets
						Nephrolithiasis/osteoporosis, hypophosphatemic, 1
							SLC34A1
						X-linked recessive hypophosphatemic rickets
							CLCN5
							OCRL
					Hypophosphatemic rickets with hyperparathyroidism
						KL
					Osteoglophonic dysplasia
						FGFR1
					Raine syndrome
						FAM20C
					X-linked dominant hypophosphatemic rickets
						PHEX
				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
			Hyperoxaluria
				Hyperoxaluria type 1
					AGXT
				Hyperoxaluria type 2
					GRHPR
				Hyperoxaluria type 3
					HOGA1
			Hypomagnesemia with hypercalciuria and nephrocalcinosis
				CLDN16
			Hypomagnesemia with hypercalciuria and nephrocalcinosis with ocular involvement
				CLDN19
			Infantile hypercalcemia
				CYP24A1
			Lowe disease
				OCRL
			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
			Williams-Beuren syndrome
				ELN
		Nephrolithiasis diarrhea syndrome
			SLC26A6
		Susceptibility to nephrolithiasis
			ALPL
			CASR
			SLC26A1
			TRPV5
			ZNF365
		Uric acid nephropathy
			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
				SLC2A9

References:

1.	Zanni G et al. (2012) Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis.

2.	Tran TH et al. (1985) Association of hereditary heparin co-factor II deficiency with thrombosis.

Update: Aug. 14, 2020

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