| H00888 | |
| H number | H00888 |
| Name | Nephrolithiasis/osteoporosis, hypophosphatemic |
| Description | Nephrolithiasis/osteoporosis, hypophosphatemic (NPHLOP) is a genetically heterologous group of disorders characterized by the formation of renal calcium stones or bone demineralization due to impaired renal phosphate reabsorption. It is caused by either mutations in SLC34A1, a sodium-phosphate cotransporter expressed in kidney and polarized osteoclasts, or in sodium-hydrogen exchanger regulatory factor (NHERF)1, that controls renal phosphate transport by trafficking SLC34A1. |
| Category | Urinary system disease |
| Network | - |
| Gene | (NPHLOP1) SLC34A1 [HSA:6569] [KO:K14683] (NPHLOP2) NHERF1 [HSA:9368] [KO:K13365] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: GB90.48 MeSH: C567363 C567362 OMIM: 612286 612287 |
| Reference | PMID:20924400 AUTHORS Alizadeh Naderi AS, Reilly RF TITLE Hereditary disorders of renal phosphate wasting. JOURNAL Nat Rev Nephrol 6:657-65 (2010) DOI:10.1038/nrneph.2010.121 PMID:15483460 AUTHORS Prie D, Beck L, Friedlander G, Silve C TITLE Sodium-phosphate cotransporters, nephrolithiasis and bone demineralization. JOURNAL Curr Opin Nephrol Hypertens 13:675-81 (2004) DOI:10.1097/00041552-200411000-00015 PMID:12324554 (SLC34A1) AUTHORS Prie D, Huart V, Bakouh N, Planelles G, Dellis O, Gerard B, Hulin P, Benque-Blanchet F, Silve C, Grandchamp B, Friedlander G TITLE Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter. JOURNAL N Engl J Med 347:983-91 (2002) DOI:10.1056/NEJMoa020028 PMID:18784102 (NHERF1) AUTHORS Karim Z, Gerard B, Bakouh N, Alili R, Leroy C, Beck L, Silve C, Planelles G, Urena-Torres P, Grandchamp B, Friedlander G, Prie D TITLE NHERF1 mutations and responsiveness of renal parathyroid hormone. JOURNAL N Engl J Med 359:1128-35 (2008) DOI:10.1056/NEJMoa0802836 |