KEGG   VARIANT: 6569v1
Entry
6569v1                      Variant                                
Name
SLC34A1 mutation
Type
Loss of function
Gene
SLC34A1  solute carrier family 34 member 1 [KO:K14683]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 182309
Network
nt06325  Hormone/cytokine signaling
Disease
H00888  Nephrolithiasis/osteoporosis, hypophosphatemic
H01198  Fanconi renotubular syndrome
H01371  Hypercalcemia infantile
Reference
  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
  Authors
Magen D, Berger L, Coady MJ, Ilivitzki A, Militianu D, Tieder M, Selig S, Lapointe JY, Zelikovic I, Skorecki K
  Title
A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.
  Journal
N Engl J Med 362:1102-9 (2010)
DOI:10.1056/NEJMoa0905647
Reference
  Authors
Schlingmann KP, Ruminska J, Kaufmann M, Dursun I, Patti M, Kranz B, Pronicka E, Ciara E, Akcay T, Bulus D, Cornelissen EA, Gawlik A, Sikora P, Patzer L, Galiano M, Boyadzhiev V, Dumic M, Vivante A, Kleta R, Dekel B, Levtchenko E, Bindels RJ, Rust S, Forster IC, Hernando N, Jones G, Wagner CA, Konrad M
  Title
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.
  Journal
J Am Soc Nephrol 27:604-14 (2016)
DOI:10.1681/ASN.2014101025
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