H01198 | |
H number | H01198 |
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 | Inherited metabolic disorder |
Network | - |
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] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
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 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 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 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 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 |