Introduction
Diseasea
| Mode of inheritanceb
| Genec
| Human chromosomal location | Reference |
---|---|---|---|---|
Idiopathic hypercalciuria | ||||
A-d | SAC | 1q23.3-q24 | [35] | |
A-d | VDR | 12q12-q14 | [30] | |
A-d | ? | 9q33.2-q34.2 | [31] | |
ADHH | A-d | CASR | 3q21.1 | [40] |
Hypercalcemia with hypercalciuria | A-d | CASR | 3q21.1 | [38] |
Bartter syndromes | ||||
Type I | A-r | SLC12A1/NKCC2 | 15q15-q21.1 | [90] |
Type II | A-r | KCNJ1/ROMK | 11q24 | [91] |
Type IIId
| A-r | CLCNKB | 1q36 | [92] |
Type IVd
| A-r | BSND | 1q31 | [93] |
Type V | A-d | CASR | 3q21.1 | [48] |
Type VIe
| X-r | CLCN5 | Xp11.22 | [50] |
Dent’s disease | X-r | CLCN5 | Xp11.22 | [52] |
Lowe’s syndrome | X-r | OCRL1 | Xq25 | [60] |
HHRH | A-r | NPT2c/SLC34A3 | 9q34 | [69] |
Nephrolithiasis, osteoporosis and hypophosphatemia | A-d | NPT2a/SLC34A1 | 5q35 | [64] |
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis | A-r | PCLN1/CLDN16 | 3q28 | [73] |
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis with ocular abnormalities | A-r | CLDN19 | 1p34.2 | [77] |
dRTA | A-d | SLC4A1/kAE1 | 17q21.31 | [81] |
dRTA with sensorineural deafness | A-r | ATP6B1/ATP6V1B1 | 2p13 | [85] |
dRTA with preserved hearing | A-r | ATP6N1B/ATP6V0A4 | 7q34 | [88] |
Genetic epidemiology of nephrolithiasis and hypercalciuria
Monogenic forms of hypercalciuria with nephrolithiasis
Idiopathic hypercalciuria
Absorptive hypercalciuria locus on 1q23.3-q24
Vitamin D receptor and IH
Chromosome 9q33.2-q34.2 locus for autosomal dominant nephrolithiasis
Calcium-sensing receptor and hypercalciuric disorders
Familial isolated primary hyperparathyroidism due to CaSR mutations
Disorder | Clinical features | Gene product | Chromosomal location of the gene |
---|---|---|---|
FIHP | Familial isolated parathyroid tumors | Menin | 11q13 |
Parafibromin | 1q31.2 | ||
CaSR | 3q21.1 | ||
MEN1 | Parathyroid hyperplasia and/or tumors associated with pituitary and pancreatico-duodenal neuro-endocrine tumors | Menin | 11q13 |
MEN2a | Parathyroid tumors with medullary thyroid cancer and pheochromocytoma | Ret | 10q11.2 |
HPT-JT | Parathyroid tumors with ossifying fibromas of the jaw | Parafibromin | 1q31.2 |