Table 2.
Table of genetically determined hyperphosphataemic and hypophosphataemic disorders with their OMIM numbers, the genes involved together with their OMIM numbers and the chromosomal locations of the genes
| Disorder | Abbrevia- tion |
OMIM | Inherit- ance |
Gene | OMIM | Gene location | |
|---|---|---|---|---|---|---|---|
| Hyperphosphataemic disorders | |||||||
| Hyperphosphataemic familial tumoral calcinosis | HFTC | ||||||
| Hyperphosphataemic familial tumoral calcinosis type 1 | HFTC1 | #211900 | AR | UDP-N-acetyl-α-d-galactosamine:polypeptide N-acetylgalactosaminyl-transferease 3 | GALNT3 | *601756 | 2q24-q31 |
| Hyperostosis-Hyperphosphataemia Syndrome | HSS | #610233 | AR | ||||
| Hyperphosphataemic familial tumoral calcinosis type 2 | HFTC2 | #211900 | AR | fibroblast growth factor 23 | FGF23 | *605380 | 12p13.3 |
| Hyperphosphataemic familial tumoral calcinosis type 3 | HFTC3 | #211900 | AR | Klotho | KL | +604824 | 13q12 |
| Hypophosphataemic disorders | |||||||
| X-linked dominant hypophosphataemic Rickets | XLHR | #307800 | XLD | phosphate-regulating gene with homologies to endopeptidases on the X chromosome | PHEX | *300550 | Xp22.2-p22.1 |
| Autosomal-dominant Hypophosphataemic rickets | ADHR1 | #193100 | AD | fibroblast growth factor 23 | FGF23 | *605380 | 12p13.3 |
| ADHR2 | %612089 | AD | KL | KL | +604824 | 13q12 | |
| Autosomal-recessive hypophosphataemia | ARHP | #241520 | AR | dentin matrix acidic phosphoprotein 1 | DMP1 | *600980 | 4q21 |
| Hereditary hypophosphataemic rickets with hypercalciuria | HHRH | #241530 | AR | solute carrier family 34 (sodium/phosphate cotransporter), member 3 | SLC34A3 | *609826 | 9q34 |
| Hypophosphataemia with osteoporosis and nephrolithiasis type I | NPHLOP1 | #612286 | AD | solute carrier family 34 (sodium/phosphate cotransporter), member 1 (see text p. 148) | SLC34A1? | *182309 | 5q35 |
| Hypophosphataemia with osteoporosis and nephrolithiasis type II | NPHLOP2 | #612287 | AD | solute carrier family 9, isoform A3, regulatory factor 1 (see text p. 148) | SLC9A3R1? | *604990 | 17q25.1 |
| Osteoglophonic dysplasia | OGD | #166250 | AD | fibroblast growth factor receptor 1 | FGFR1 | *136350 | 8p11.2-p11.1 |
| Opsismodysplasia | OSD | %258480 | AR | not known | |||
| Schimmelpenning-Feuerstein-Mims syndrome | %163200 | sporadic somatic mutation | fibroblast growth factor receptor 33 | FGFR3 | 4p16.3 | ||
| McCune-Albright fibrous dysplasia | MAS/FD | #174800 | sporadic somatic mutation | GNAS complex locus | GNAS | +139320 | 20q13.2 |
| Jansen′s metaphyseal chondrodysplasia | #156400 | AR | PTH/PTHrP receptor 1 | PTHR1 | *168468 | 3p22-p21.1 | |
| Neurofibromatosis type I | NF1 | +162200 | AD | neurofibronim | NF1 | 17q11.2 | |
| Neurofibromatosis type II | NF2 | #101000 | AD | neurofibronim 2 (merlin) | NF2 | *607379 | 22q12.2 |
| Tissue mineralisation disorders | |||||||
| Normophosphataemic tumoral calcinosis | NFTC | #610455 | AR | sterile alpha motif domain-containing protein 9 | SAMD9 | *610456 | 7q21 |
| Pulmonary alveolar microlithiasis | #265100 | AR | solute carrier family 34 (sodium/phosphate cotransporter), member 2 | SLC34A2 | *604217 | 4p15.31- p15.2 | |