Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

None (2000) Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis.

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2.

Lehmann-Horn F et al. (1999) Voltage-gated ion channels and hereditary disease.

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3.

OMIM.ORG article

Omim 220150 [^]
4.

Orphanet article

Orphanet ID 3467 [^]
5.

Wikipedia article

Wikipedia EN (Kidney_stone_disease) [^]
Update: April 29, 2019