KEGG   DISEASE: Nephrolithiasis/osteoporosis, hypophosphatemic
Entry
H00888                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 16 Diseases of the genitourinary system
  Diseases of the urinary system
   GB90  Certain specified disorders of kidney or ureter
    H00888  Nephrolithiasis/osteoporosis, hypophosphatemic
Pathway-based classification of diseases [BR:br08402]
 Endocrine system
  nt06325  Hormone/cytokine signaling
   H00888  Nephrolithiasis/osteoporosis, hypophosphatemic
Pathway
hsa04928 Parathyroid hormone synthesis, secretion and action   
Network
nt06325 Hormone/cytokine signaling
Gene
(NPHLOP1) SLC34A1 [HSA:6569] [KO:K14683]
(NPHLOP2) NHERF1 [HSA:9368] [KO:K13365]
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
Reference
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
Reference
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
Reference
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
LinkDB

» Japanese version

DBGET integrated database retrieval system