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Nephrotic Syndrome - SMARCAL1 Associated

MedGen UID:
886169
Concept ID:
C4054366
Disease or Syndrome

Definition

Nephrotic syndrome attributed to mutation(s) in the SMARCAL1 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNephrotic Syndrome - SMARCAL1 Associated

Recent clinical studies

Etiology

Lipska-Ziętkiewicz BS, Gellermann J, Boyer O, Gribouval O, Ziętkiewicz S, Kari JA, Shalaby MA, Ozaltin F, Dusek J, Melk A, Bayazit AK, Massella L, Hyla-Klekot L, Habbig S, Godron A, Szczepańska M, Bieniaś B, Drożdż D, Odeh R, Jarmużek W, Zachwieja K, Trautmann A, Antignac C, Schaefer F; PodoNet Consortium
PLoS One 2017;12(8):e0180926. Epub 2017 Aug 10 doi: 10.1371/journal.pone.0180926. PMID: 28796785Free PMC Article
Simon AJ, Lev A, Jeison M, Borochowitz ZU, Korn D, Lerenthal Y, Somech R
J Clin Immunol 2014 Jan;34(1):76-83. Epub 2013 Nov 7 doi: 10.1007/s10875-013-9957-3. PMID: 24197801
Bansbach CE, Boerkoel CF, Cortez D
Nucleus 2010 May-Jun;1(3):245-8. Epub 2010 Feb 16 doi: 10.4161/nucl.1.3.11739. PMID: 21327070Free PMC Article
Zivicnjak M, Franke D, Zenker M, Hoyer J, Lücke T, Pape L, Ehrich JH
Pediatr Res 2009 May;65(5):564-8. doi: 10.1203/PDR.0b013e3181998a74. PMID: 19127206
Antignac C
Nefrologia 2005;25 Suppl 2:25-8. PMID: 16050398

Diagnosis

Xiong S, Shuai L, Li X, Dang X, Wu X, He Q
BMC Nephrol 2020 May 11;21(1):170. doi: 10.1186/s12882-020-01809-6. PMID: 32393263Free PMC Article
Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, Ashraf S, Rao J, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Schneider R, Gee HY, Schmidt JM, Vivante A, van der Ven AT, Ityel H, Chen J, Sadowski CE, Kohl S, Pabst WL, Nakayama M, Somers MJG, Rodig NM, Daouk G, Baum M, Stein DR, Ferguson MA, Traum AZ, Soliman NA, Kari JA, El Desoky S, Fathy H, Zenker M, Bakkaloglu SA, Müller D, Noyan A, Ozaltin F, Cadnapaphornchai MA, Hashmi S, Hopcian J, Kopp JB, Benador N, Bockenhauer D, Bogdanovic R, Stajić N, Chernin G, Ettenger R, Fehrenbach H, Kemper M, Munarriz RL, Podracka L, Büscher R, Serdaroglu E, Tasic V, Mane S, Lifton RP, Braun DA, Hildebrandt F
Clin J Am Soc Nephrol 2018 Jan 6;13(1):53-62. Epub 2017 Nov 10 doi: 10.2215/CJN.04120417. PMID: 29127259Free PMC Article
Lipska-Ziętkiewicz BS, Gellermann J, Boyer O, Gribouval O, Ziętkiewicz S, Kari JA, Shalaby MA, Ozaltin F, Dusek J, Melk A, Bayazit AK, Massella L, Hyla-Klekot L, Habbig S, Godron A, Szczepańska M, Bieniaś B, Drożdż D, Odeh R, Jarmużek W, Zachwieja K, Trautmann A, Antignac C, Schaefer F; PodoNet Consortium
PLoS One 2017;12(8):e0180926. Epub 2017 Aug 10 doi: 10.1371/journal.pone.0180926. PMID: 28796785Free PMC Article
Simon AJ, Lev A, Jeison M, Borochowitz ZU, Korn D, Lerenthal Y, Somech R
J Clin Immunol 2014 Jan;34(1):76-83. Epub 2013 Nov 7 doi: 10.1007/s10875-013-9957-3. PMID: 24197801
Zivicnjak M, Franke D, Zenker M, Hoyer J, Lücke T, Pape L, Ehrich JH
Pediatr Res 2009 May;65(5):564-8. doi: 10.1203/PDR.0b013e3181998a74. PMID: 19127206

Therapy

Baradaran-Heravi A, Lange J, Asakura Y, Cochat P, Massella L, Boerkoel CF
Am J Med Genet A 2013 Oct;161A(10):2609-13. Epub 2013 Aug 15 doi: 10.1002/ajmg.a.36111. PMID: 23950031Free PMC Article
Zivicnjak M, Franke D, Zenker M, Hoyer J, Lücke T, Pape L, Ehrich JH
Pediatr Res 2009 May;65(5):564-8. doi: 10.1203/PDR.0b013e3181998a74. PMID: 19127206
Lücke T, Kanzelmeyer N, Baradaran-Heravi A, Boerkoel CF, Burg M, Ehrich JH, Pape L
Pediatr Transplant 2009 Jun;13(4):482-9. Epub 2008 Sep 10 doi: 10.1111/j.1399-3046.2008.01013.x. PMID: 18785907
Bökenkamp A, deJong M, van Wijk JA, Block D, van Hagen JM, Ludwig M
Pediatr Nephrol 2005 Dec;20(12):1724-8. Epub 2005 Oct 20 doi: 10.1007/s00467-005-2047-x. PMID: 16237566
Antignac C
Nefrologia 2005;25 Suppl 2:25-8. PMID: 16050398

Prognosis

Gharesouran J, Hosseinzadeh H, Ghergherechi R, Shiva S, Taheri M, Liehr T, Rezazadeh M
Pathol Res Pract 2024 Feb;254:155092. Epub 2024 Jan 3 doi: 10.1016/j.prp.2024.155092. PMID: 38218042
Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, Ashraf S, Rao J, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Schneider R, Gee HY, Schmidt JM, Vivante A, van der Ven AT, Ityel H, Chen J, Sadowski CE, Kohl S, Pabst WL, Nakayama M, Somers MJG, Rodig NM, Daouk G, Baum M, Stein DR, Ferguson MA, Traum AZ, Soliman NA, Kari JA, El Desoky S, Fathy H, Zenker M, Bakkaloglu SA, Müller D, Noyan A, Ozaltin F, Cadnapaphornchai MA, Hashmi S, Hopcian J, Kopp JB, Benador N, Bockenhauer D, Bogdanovic R, Stajić N, Chernin G, Ettenger R, Fehrenbach H, Kemper M, Munarriz RL, Podracka L, Büscher R, Serdaroglu E, Tasic V, Mane S, Lifton RP, Braun DA, Hildebrandt F
Clin J Am Soc Nephrol 2018 Jan 6;13(1):53-62. Epub 2017 Nov 10 doi: 10.2215/CJN.04120417. PMID: 29127259Free PMC Article
Lipska-Ziętkiewicz BS, Gellermann J, Boyer O, Gribouval O, Ziętkiewicz S, Kari JA, Shalaby MA, Ozaltin F, Dusek J, Melk A, Bayazit AK, Massella L, Hyla-Klekot L, Habbig S, Godron A, Szczepańska M, Bieniaś B, Drożdż D, Odeh R, Jarmużek W, Zachwieja K, Trautmann A, Antignac C, Schaefer F; PodoNet Consortium
PLoS One 2017;12(8):e0180926. Epub 2017 Aug 10 doi: 10.1371/journal.pone.0180926. PMID: 28796785Free PMC Article
Santangelo L, Gigante M, Netti GS, Diella S, Puteo F, Carbone V, Grandaliano G, Giordano M, Gesualdo L
BMC Nephrol 2014 Mar 3;15:41. doi: 10.1186/1471-2369-15-41. PMID: 24589093Free PMC Article
Baradaran-Heravi A, Lange J, Asakura Y, Cochat P, Massella L, Boerkoel CF
Am J Med Genet A 2013 Oct;161A(10):2609-13. Epub 2013 Aug 15 doi: 10.1002/ajmg.a.36111. PMID: 23950031Free PMC Article

Clinical prediction guides

Gharesouran J, Hosseinzadeh H, Ghergherechi R, Shiva S, Taheri M, Liehr T, Rezazadeh M
Pathol Res Pract 2024 Feb;254:155092. Epub 2024 Jan 3 doi: 10.1016/j.prp.2024.155092. PMID: 38218042
Pugliese GM, Salaris F, Palermo V, Marabitti V, Morina N, Rosa A, Franchitto A, Pichierri P
Dis Model Mech 2019 Oct 17;12(10) doi: 10.1242/dmm.039487. PMID: 31515241Free PMC Article
Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, Ashraf S, Rao J, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Schneider R, Gee HY, Schmidt JM, Vivante A, van der Ven AT, Ityel H, Chen J, Sadowski CE, Kohl S, Pabst WL, Nakayama M, Somers MJG, Rodig NM, Daouk G, Baum M, Stein DR, Ferguson MA, Traum AZ, Soliman NA, Kari JA, El Desoky S, Fathy H, Zenker M, Bakkaloglu SA, Müller D, Noyan A, Ozaltin F, Cadnapaphornchai MA, Hashmi S, Hopcian J, Kopp JB, Benador N, Bockenhauer D, Bogdanovic R, Stajić N, Chernin G, Ettenger R, Fehrenbach H, Kemper M, Munarriz RL, Podracka L, Büscher R, Serdaroglu E, Tasic V, Mane S, Lifton RP, Braun DA, Hildebrandt F
Clin J Am Soc Nephrol 2018 Jan 6;13(1):53-62. Epub 2017 Nov 10 doi: 10.2215/CJN.04120417. PMID: 29127259Free PMC Article
Lipska-Ziętkiewicz BS, Gellermann J, Boyer O, Gribouval O, Ziętkiewicz S, Kari JA, Shalaby MA, Ozaltin F, Dusek J, Melk A, Bayazit AK, Massella L, Hyla-Klekot L, Habbig S, Godron A, Szczepańska M, Bieniaś B, Drożdż D, Odeh R, Jarmużek W, Zachwieja K, Trautmann A, Antignac C, Schaefer F; PodoNet Consortium
PLoS One 2017;12(8):e0180926. Epub 2017 Aug 10 doi: 10.1371/journal.pone.0180926. PMID: 28796785Free PMC Article
Baradaran-Heravi A, Lange J, Asakura Y, Cochat P, Massella L, Boerkoel CF
Am J Med Genet A 2013 Oct;161A(10):2609-13. Epub 2013 Aug 15 doi: 10.1002/ajmg.a.36111. PMID: 23950031Free PMC Article

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