KEGG   DISEASE: 腎ファンコニー症候群
エントリ  
H01198                                                             
名称    
腎ファンコニー症候群
概要    
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.
カテゴリ  
先天性代謝異常症
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 16 泌尿生殖器系の疾患
  尿路系の疾患
   GB90  明示された腎または尿管の疾患
    H01198  腎ファンコニー症候群
パスウェイに基づく疾患分類 [BR:jp08402]
 内分泌系
  nt06325  ホルモンとサイトカインのシグナリング
   H01198  腎ファンコニー症候群
パスウェイ 
hsa04928  Parathyroid hormone synthesis, secretion and action
ネットワーク
nt06325 Hormone/cytokine signaling
病因遺伝子 
(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]
リンク   
ICD-11: GB90.42
MeSH: D005198
OMIM: 134600 613388 615605 616026 618913
文献    
PMID:29654216 (FRTS1)
  著者
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
  タイトル
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
  雑誌
J Am Soc Nephrol 29:1849-1858 (2018)
DOI:10.1681/ASN.2017111179
文献    
PMID:20335586 (FRTS2)
  著者
Magen D, Berger L, Coady MJ, Ilivitzki A, Militianu D, Tieder M, Selig S, Lapointe JY, Zelikovic I, Skorecki K
  タイトル
A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.
  雑誌
N Engl J Med 362:1102-9 (2010)
DOI:10.1056/NEJMoa0905647
文献    
PMID:24401050 (FRTS3)
  著者
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
  タイトル
Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.
  雑誌
N Engl J Med 370:129-38 (2014)
DOI:10.1056/NEJMoa1307581
文献    
PMID:24285859 (FRTS4)
  著者
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
  タイトル
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a beta cell phenotype.
  雑誌
J Med Genet 51:165-9 (2014)
DOI:10.1136/jmedgenet-2013-102066
文献    
PMID:27466185 (FRTS5)
  著者
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
  タイトル
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.
  雑誌
Hum Mol Genet 25:4062-4079 (2016)
DOI:10.1093/hmg/ddw245
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