KEGG   DISEASE: Fanconi renotubular syndrome
Entry
H01198                      Disease                                
Name
Fanconi renotubular syndrome
Description
Fanconi renotubular syndrome (FRTS) is a disease resulting from a generalized dysfunction of the proximal kidney tubule leading to decreased solute and water reabsorption. Patients had a generalized proximal tubulopathy, renal phosphate wasting, bone mineral deficiency, and decreased glomerular filtration rates. It is reported that mutations in SLC34A1, which encodes the renal sodium-inorganic phosphate cotransporter NaPi-IIa, may cause this disease.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H01198  Fanconi renotubular syndrome
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
    H01198  Fanconi renotubular syndrome
Gene
(FRTS1) GATM [HSA:2628] [KO:K00613]
(FRTS2) SLC34A1 [HSA:6569] [KO:K14683]
(FRTS3) EHHADH [HSA:1962] [KO:K07514]
(FRTS4) HNF4A [HSA:3172] [KO:K07292]
(FRTS5) NDUFAF6 [HSA:137682] [KO:K18163]
Other DBs
ICD-11: GB90.42
ICD-10: E72.0
MeSH: D005198
OMIM: 134600 613388 615605 616026 618913
Reference
PMID:29654216 (FRTS1)
  Authors
Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C, Laing C, Wiesner J, Devi S, Zhou W, Schmitt R, Tegtmeier I, Sterner C, Doellerer H, Renner K, Oefner PJ, Dettmer K, Simbuerger JM, Witzgall R, Stanescu HC, Dumitriu S, Iancu D, Patel V, Mozere M, Tekman M, Jaureguiberry G, Issler N, Kesselheim A, Walsh SB, Gale DP, Howie AJ, Martins JR, Hall AM, Kasgharian M, O'Brien K, Ferreira CR, Atwal PS, Jain M, Hammers A, Charles-Edwards G, Choe CU, Isbrandt D, Cebrian-Serrano A, Davies B, Sandford RN, Pugh C, Konecki DS, Povey S, Bockenhauer D, Lichter-Konecki U, Gahl WA, Unwin RJ, Warth R, Kleta R
  Title
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
  Journal
J Am Soc Nephrol 29:1849-1858 (2018)
DOI:10.1681/ASN.2017111179
Reference
PMID:20335586 (FRTS2)
  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
PMID:24401050 (FRTS3)
  Authors
Klootwijk ED, Reichold M, Helip-Wooley A, Tolaymat A, Broeker C, Robinette SL, Reinders J, Peindl D, Renner K, Eberhart K, Assmann N, Oefner PJ, Dettmer K, Sterner C, Schroeder J, Zorger N, Witzgall R, Reinhold SW, Stanescu HC, Bockenhauer D, Jaureguiberry G, Courtneidge H, Hall AM, Wijeyesekera AD, Holmes E, Nicholson JK, O'Brien K, Bernardini I, Krasnewich DM, Arcos-Burgos M, Izumi Y, Nonoguchi H, Jia Y, Reddy JK, Ilyas M, Unwin RJ, Gahl WA, Warth R, Kleta R
  Title
Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.
  Journal
N Engl J Med 370:129-38 (2014)
DOI:10.1056/NEJMoa1307581
Reference
PMID:24285859 (FRTS4)
  Authors
Hamilton AJ, Bingham C, McDonald TJ, Cook PR, Caswell RC, Weedon MN, Oram RA, Shields BM, Shepherd M, Inward CD, Hamilton-Shield JP, Kohlhase J, Ellard S, Hattersley AT
  Title
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a beta cell phenotype.
  Journal
J Med Genet 51:165-9 (2014)
DOI:10.1136/jmedgenet-2013-102066
Reference
PMID:27466185 (FRTS5)
  Authors
Hartmannova H, Piherova L, Tauchmannova K, Kidd K, Acott PD, Crocker JF, Oussedik Y, Mallet M, Hodanova K, Stranecky V, Pristoupilova A, Baresova V, Jedlickova I, Zivna M, Sovova J, Hulkova H, Robins V, Vrbacky M, Pecina P, Kaplanova V, Houstek J, Mracek T, Thibeault Y, Bleyer AJ, Kmoch S
  Title
Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.
  Journal
Hum Mol Genet 25:4062-4079 (2016)
DOI:10.1093/hmg/ddw245
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