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Nephrotic Syndrome - PLCE1 Associated

MedGen UID:
888103
Concept ID:
C4054371
Disease or Syndrome

Definition

Nephrotic syndrome attributed to mutation(s) in the PLCE1 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNephrotic Syndrome - PLCE1 Associated

Professional guidelines

PubMed

Ramanathan AS, Vijayan M, Rajagopal S, Rajendiran P, Senguttuvan P
Mol Cell Biochem 2017 Feb;426(1-2):177-181. Epub 2016 Nov 25 doi: 10.1007/s11010-016-2889-5. PMID: 27885584
Santín S, Bullich G, Tazón-Vega B, García-Maset R, Giménez I, Silva I, Ruíz P, Ballarín J, Torra R, Ars E
Clin J Am Soc Nephrol 2011 May;6(5):1139-48. Epub 2011 Mar 17 doi: 10.2215/CJN.05260610. PMID: 21415313Free PMC Article
Machuca E, Benoit G, Nevo F, Tête MJ, Gribouval O, Pawtowski A, Brandström P, Loirat C, Niaudet P, Gubler MC, Antignac C
J Am Soc Nephrol 2010 Jul;21(7):1209-17. Epub 2010 May 27 doi: 10.1681/ASN.2009121309. PMID: 20507940Free PMC Article

Recent clinical studies

Etiology

Al Riyami MS, Al Alawi I, Al Gaithi B, Al Maskari A, Al Kalbani N, Al Hashmi N, Al Balushi A, Al Shahi M, Al Saidi S, Al Bimani M, Al Hatali F, Mabillard H, Sayer JA
Mol Genet Genomic Med 2023 Sep;11(9):e2201. Epub 2023 May 19 doi: 10.1002/mgg3.2201. PMID: 37204080Free PMC Article
Sharief SN, Hefni NA, Alzahrani WA, Nazer II, Bayazeed MA, Alhasan KA, Safdar OY, El-Desoky SM, Kari JA
World J Pediatr 2019 Apr;15(2):198-203. Epub 2019 Feb 5 doi: 10.1007/s12519-018-00224-0. PMID: 30721404
Ramanathan AS, Vijayan M, Rajagopal S, Rajendiran P, Senguttuvan P
Mol Cell Biochem 2017 Feb;426(1-2):177-181. Epub 2016 Nov 25 doi: 10.1007/s11010-016-2889-5. PMID: 27885584
Tasic V, Gucev Z, Polenakovic M
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2015;36(3):5-12. doi: 10.1515/prilozi-2015-0073. PMID: 27442391
Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA; SRNS Study Group, Hildebrandt F
J Am Soc Nephrol 2015 Jun;26(6):1279-89. Epub 2014 Oct 27 doi: 10.1681/ASN.2014050489. PMID: 25349199Free PMC Article

Diagnosis

Al Riyami MS, Al Alawi I, Al Gaithi B, Al Maskari A, Al Kalbani N, Al Hashmi N, Al Balushi A, Al Shahi M, Al Saidi S, Al Bimani M, Al Hatali F, Mabillard H, Sayer JA
Mol Genet Genomic Med 2023 Sep;11(9):e2201. Epub 2023 May 19 doi: 10.1002/mgg3.2201. PMID: 37204080Free PMC Article
Sharief SN, Hefni NA, Alzahrani WA, Nazer II, Bayazeed MA, Alhasan KA, Safdar OY, El-Desoky SM, Kari JA
World J Pediatr 2019 Apr;15(2):198-203. Epub 2019 Feb 5 doi: 10.1007/s12519-018-00224-0. PMID: 30721404
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
Wang JJ, Mao JH
World J Pediatr 2016 May;12(2):149-58. Epub 2016 Mar 9 doi: 10.1007/s12519-016-0009-y. PMID: 26961288
Tasic V, Gucev Z, Polenakovic M
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2015;36(3):5-12. doi: 10.1515/prilozi-2015-0073. PMID: 27442391

Therapy

Nandlal L, Winkler CA, Bhimma R, Cho S, Nelson GW, Haripershad S, Naicker T
Eur J Pediatr 2022 Oct;181(10):3595-3606. Epub 2022 Aug 3 doi: 10.1007/s00431-022-04581-x. PMID: 35920919Free PMC Article
Ramanathan AS, Vijayan M, Rajagopal S, Rajendiran P, Senguttuvan P
Mol Cell Biochem 2017 Feb;426(1-2):177-181. Epub 2016 Nov 25 doi: 10.1007/s11010-016-2889-5. PMID: 27885584
Kari JA, Montini G, Bockenhauer D, Brennan E, Rees L, Trompeter RS, Tullus K, Van't Hoff W, Waters A, Ashton E, Lench N, Sebire NJ, Marks SD
Pediatr Nephrol 2014 Nov;29(11):2173-80. Epub 2014 Jun 6 doi: 10.1007/s00467-014-2856-x. PMID: 24902943Free PMC Article
Santín S, Bullich G, Tazón-Vega B, García-Maset R, Giménez I, Silva I, Ruíz P, Ballarín J, Torra R, Ars E
Clin J Am Soc Nephrol 2011 May;6(5):1139-48. Epub 2011 Mar 17 doi: 10.2215/CJN.05260610. PMID: 21415313Free PMC Article
Boyer O, Benoit G, Gribouval O, Nevo F, Pawtowski A, Bilge I, Bircan Z, Deschênes G, Guay-Woodford LM, Hall M, Macher MA, Soulami K, Stefanidis CJ, Weiss R, Loirat C, Gubler MC, Antignac C
J Med Genet 2010 Jul;47(7):445-52. doi: 10.1136/jmg.2009.076166. PMID: 20591883

Prognosis

Al Riyami MS, Al Alawi I, Al Gaithi B, Al Maskari A, Al Kalbani N, Al Hashmi N, Al Balushi A, Al Shahi M, Al Saidi S, Al Bimani M, Al Hatali F, Mabillard H, Sayer JA
Mol Genet Genomic Med 2023 Sep;11(9):e2201. Epub 2023 May 19 doi: 10.1002/mgg3.2201. PMID: 37204080Free PMC Article
Sharief SN, Hefni NA, Alzahrani WA, Nazer II, Bayazeed MA, Alhasan KA, Safdar OY, El-Desoky SM, Kari JA
World J Pediatr 2019 Apr;15(2):198-203. Epub 2019 Feb 5 doi: 10.1007/s12519-018-00224-0. PMID: 30721404
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
Tasic V, Gucev Z, Polenakovic M
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2015;36(3):5-12. doi: 10.1515/prilozi-2015-0073. PMID: 27442391
Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA; SRNS Study Group, Hildebrandt F
J Am Soc Nephrol 2015 Jun;26(6):1279-89. Epub 2014 Oct 27 doi: 10.1681/ASN.2014050489. PMID: 25349199Free PMC Article

Clinical prediction guides

Nandlal L, Winkler CA, Bhimma R, Cho S, Nelson GW, Haripershad S, Naicker T
Eur J Pediatr 2022 Oct;181(10):3595-3606. Epub 2022 Aug 3 doi: 10.1007/s00431-022-04581-x. PMID: 35920919Free 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
Wang Y, Dang X, He Q, Zhen Y, He X, Yi Z, Zhu K
Gene 2017 Aug 20;625:15-20. Epub 2017 May 2 doi: 10.1016/j.gene.2017.04.050. PMID: 28476686
Tasic V, Gucev Z, Polenakovic M
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2015;36(3):5-12. doi: 10.1515/prilozi-2015-0073. PMID: 27442391
Boyer O, Benoit G, Gribouval O, Nevo F, Pawtowski A, Bilge I, Bircan Z, Deschênes G, Guay-Woodford LM, Hall M, Macher MA, Soulami K, Stefanidis CJ, Weiss R, Loirat C, Gubler MC, Antignac C
J Med Genet 2010 Jul;47(7):445-52. doi: 10.1136/jmg.2009.076166. PMID: 20591883

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