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Nephrotic Syndrome - PTPRO Associated

MedGen UID:
884129
•Concept ID:
C4054370
•
Disease or Syndrome

Definition

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

Term Hierarchy

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

Professional guidelines

PubMed

Idiopathic collapsing glomerulopathy is associated with APOL1 high-risk genotypes or Mendelian variants in most affected individuals in a highly admixed population.
Neves PD, Watanabe A, Watanabe EH, Narcizo AM, Nunes K, Lerario AM, Ferreira FM, Cavalcante LB, Wongboonsin J, Malheiros DM, Jorge LB, Sampson MG, Noronha IL, Onuchic LF
Kidney Int 2024 Mar;105(3):593-607. Epub 2023 Dec 22 doi: 10.1016/j.kint.2023.11.028. PMID: 38143038

Recent clinical studies

Etiology

Idiopathic collapsing glomerulopathy is associated with APOL1 high-risk genotypes or Mendelian variants in most affected individuals in a highly admixed population.
Neves PD, Watanabe A, Watanabe EH, Narcizo AM, Nunes K, Lerario AM, Ferreira FM, Cavalcante LB, Wongboonsin J, Malheiros DM, Jorge LB, Sampson MG, Noronha IL, Onuchic LF
Kidney Int 2024 Mar;105(3):593-607. Epub 2023 Dec 22 doi: 10.1016/j.kint.2023.11.028. PMID: 38143038
Mutational landscape of TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2 and WT1 genes associated with Steroid resistant nephrotic syndrome.
Thakor JM, Parmar G, Mistry KN, Gang S, Rank DN, Joshi CG
Mol Biol Rep 2021 Nov;48(11):7193-7201. Epub 2021 Sep 21 doi: 10.1007/s11033-021-06711-4. PMID: 34546508
Disruption of PTPRO causes childhood-onset nephrotic syndrome.
Ozaltin F, Ibsirlioglu T, Taskiran EZ, Baydar DE, Kaymaz F, Buyukcelik M, Kilic BD, Balat A, Iatropoulos P, Asan E, Akarsu NA, Schaefer F, Yilmaz E, Bakkaloglu A; PodoNet Consortium
Am J Hum Genet 2011 Jul 15;89(1):139-47. Epub 2011 Jun 30 doi: 10.1016/j.ajhg.2011.05.026. PMID: 21722858Free PMC Article
Expression of synaptopodin and GLEPP1 as markers of steroid responsiveness in primary focal segmental glomerulosclerosis.
Hirakawa M, Tsuruya K, Yotsueda H, Tokumoto M, Ikeda H, Katafuchi R, Fujimi S, Hirakata H, Iida M
Life Sci 2006 Jul 17;79(8):757-63. Epub 2006 Mar 27 doi: 10.1016/j.lfs.2006.02.031. PMID: 16564554

Diagnosis

Idiopathic collapsing glomerulopathy is associated with APOL1 high-risk genotypes or Mendelian variants in most affected individuals in a highly admixed population.
Neves PD, Watanabe A, Watanabe EH, Narcizo AM, Nunes K, Lerario AM, Ferreira FM, Cavalcante LB, Wongboonsin J, Malheiros DM, Jorge LB, Sampson MG, Noronha IL, Onuchic LF
Kidney Int 2024 Mar;105(3):593-607. Epub 2023 Dec 22 doi: 10.1016/j.kint.2023.11.028. PMID: 38143038
Mutational landscape of TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2 and WT1 genes associated with Steroid resistant nephrotic syndrome.
Thakor JM, Parmar G, Mistry KN, Gang S, Rank DN, Joshi CG
Mol Biol Rep 2021 Nov;48(11):7193-7201. Epub 2021 Sep 21 doi: 10.1007/s11033-021-06711-4. PMID: 34546508
Expression of synaptopodin and GLEPP1 as markers of steroid responsiveness in primary focal segmental glomerulosclerosis.
Hirakawa M, Tsuruya K, Yotsueda H, Tokumoto M, Ikeda H, Katafuchi R, Fujimi S, Hirakata H, Iida M
Life Sci 2006 Jul 17;79(8):757-63. Epub 2006 Mar 27 doi: 10.1016/j.lfs.2006.02.031. PMID: 16564554

Therapy

Expression of synaptopodin and GLEPP1 as markers of steroid responsiveness in primary focal segmental glomerulosclerosis.
Hirakawa M, Tsuruya K, Yotsueda H, Tokumoto M, Ikeda H, Katafuchi R, Fujimi S, Hirakata H, Iida M
Life Sci 2006 Jul 17;79(8):757-63. Epub 2006 Mar 27 doi: 10.1016/j.lfs.2006.02.031. PMID: 16564554

Prognosis

Idiopathic collapsing glomerulopathy is associated with APOL1 high-risk genotypes or Mendelian variants in most affected individuals in a highly admixed population.
Neves PD, Watanabe A, Watanabe EH, Narcizo AM, Nunes K, Lerario AM, Ferreira FM, Cavalcante LB, Wongboonsin J, Malheiros DM, Jorge LB, Sampson MG, Noronha IL, Onuchic LF
Kidney Int 2024 Mar;105(3):593-607. Epub 2023 Dec 22 doi: 10.1016/j.kint.2023.11.028. PMID: 38143038
Mutational landscape of TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2 and WT1 genes associated with Steroid resistant nephrotic syndrome.
Thakor JM, Parmar G, Mistry KN, Gang S, Rank DN, Joshi CG
Mol Biol Rep 2021 Nov;48(11):7193-7201. Epub 2021 Sep 21 doi: 10.1007/s11033-021-06711-4. PMID: 34546508

Clinical prediction guides

Mutational landscape of TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2 and WT1 genes associated with Steroid resistant nephrotic syndrome.
Thakor JM, Parmar G, Mistry KN, Gang S, Rank DN, Joshi CG
Mol Biol Rep 2021 Nov;48(11):7193-7201. Epub 2021 Sep 21 doi: 10.1007/s11033-021-06711-4. PMID: 34546508
Disruption of PTPRO causes childhood-onset nephrotic syndrome.
Ozaltin F, Ibsirlioglu T, Taskiran EZ, Baydar DE, Kaymaz F, Buyukcelik M, Kilic BD, Balat A, Iatropoulos P, Asan E, Akarsu NA, Schaefer F, Yilmaz E, Bakkaloglu A; PodoNet Consortium
Am J Hum Genet 2011 Jul 15;89(1):139-47. Epub 2011 Jun 30 doi: 10.1016/j.ajhg.2011.05.026. PMID: 21722858Free PMC Article
Dysregulation of podocyte phenotype in idiopathic collapsing glomerulopathy and HIV-associated nephropathy.
Yang Y, Gubler MC, Beaufils H
Nephron 2002 Jul;91(3):416-23. doi: 10.1159/000064281. PMID: 12119471

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