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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

WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome.
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
Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.
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
Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.
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

Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome.
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
Genetics of congenital and infantile nephrotic syndrome.
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
WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome.
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
Steroid Resistant Nephrotic Syndrome-Genetic Consideration.
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
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
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

Genetics of congenital and infantile nephrotic syndrome.
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
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.
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
WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome.
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
The etiology of congenital nephrotic syndrome: current status and challenges.
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
Steroid Resistant Nephrotic Syndrome-Genetic Consideration.
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

Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa.
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: 35920919
WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome.
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
Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.
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
Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome.
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
Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome.
Benoit G, Machuca E, Nevo F, Gribouval O, Lepage D, Antignac C
Pediatr Nephrol 2010 Mar;25(3):445-51. Epub 2009 Dec 3 doi: 10.1007/s00467-009-1372-x. PMID: 19956976

Prognosis

Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome.
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
Genetics of congenital and infantile nephrotic syndrome.
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
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.
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
Steroid Resistant Nephrotic Syndrome-Genetic Consideration.
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
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
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

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.
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
Mutation spectrum of genes associated with steroid-resistant nephrotic syndrome in Chinese children.
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
Steroid Resistant Nephrotic Syndrome-Genetic Consideration.
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
Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.
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
Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome.
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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