Nephrocalcinosis
This group of diseases is characterized by accumulation of calcium-containing hard-substances in kidney's interstitium and recurrent kidney stones.
Systematic
Urolithiasis
|
|
Cystinuria
|
|
Dicarboxylic aminoaciduria
|
|
Dihydroxyadenin urolithiasis
|
|
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
|
|
Susceptibility to nephrolithiasis
|
|
Uric acid nephropathy
|
|
|
|
|
|
|
|
|
|
References:
1. |
Moochhala SH et al. (2008) Renal calcium stones: insights from the control of bone mineralization.
|
2. |
Stechman MJ et al. (2009) Genetic causes of hypercalciuric nephrolithiasis.
|
3. |
Vervaet BA et al. (2009) Nephrocalcinosis: new insights into mechanisms and consequences.
|
4. |
Orphanet article
Orphanet ID 1031
|
5. |
Wikipedia article
Wikipedia EN (Nephrocalcinosis)
|
Update: Aug. 14, 2020