U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Nephrotic Syndrome - MYO1E Associated

MedGen UID:
887391
•Concept ID:
C4054376
•
Disease or Syndrome

Definition

Nephrotic syndrome attributed to mutation(s) in the MYO1E gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNephrotic Syndrome - MYO1E Associated

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
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: 35920919Free PMC Article

Diagnosis

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
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: 35920919Free PMC Article
Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.
Lennon R, Stuart HM, Bierzynska A, Randles MJ, Kerr B, Hillman KA, Batra G, Campbell J, Storey H, Flinter FA, Koziell A, Welsh GI, Saleem MA, Webb NJ, Woolf AS
Pediatr Nephrol 2015 Sep;30(9):1459-65. Epub 2015 Mar 5 doi: 10.1007/s00467-015-3067-9. PMID: 25739341Free PMC Article

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: 35920919Free PMC Article
MYO1E mutations and childhood familial focal segmental glomerulosclerosis.
Mele C, Iatropoulos P, Donadelli R, Calabria A, Maranta R, Cassis P, Buelli S, Tomasoni S, Piras R, Krendel M, Bettoni S, Morigi M, Delledonne M, Pecoraro C, Abbate I, Capobianchi MR, Hildebrandt F, Otto E, Schaefer F, Macciardi F, Ozaltin F, Emre S, Ibsirlioglu T, Benigni A, Remuzzi G, Noris M; PodoNet Consortium
N Engl J Med 2011 Jul 28;365(4):295-306. Epub 2011 Jul 14 doi: 10.1056/NEJMoa1101273. PMID: 21756023Free PMC Article

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
Focal segmental glomerulosclerosis and proteinuria associated with Myo1E mutations: novel variants and histological phenotype analysis.
Krendel M, Leh S, Garone ME, Edwards-Richards A, Lin JJ, Brackman D, Knappskog P, Mikhailov A
Pediatr Nephrol 2023 Feb;38(2):439-449. Epub 2022 Jun 20 doi: 10.1007/s00467-022-05634-x. PMID: 35723736Free PMC Article
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: 35920919Free PMC Article
Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome.
Sanna-Cherchi S, Burgess KE, Nees SN, Caridi G, Weng PL, Dagnino M, Bodria M, Carrea A, Allegretta MA, Kim HR, Perry BJ, Gigante M, Clark LN, Kisselev S, Cusi D, Gesualdo L, Allegri L, Scolari F, D'Agati V, Shapiro LS, Pecoraro C, Palomero T, Ghiggeri GM, Gharavi AG
Kidney Int 2011 Aug;80(4):389-96. Epub 2011 Jun 22 doi: 10.1038/ki.2011.148. PMID: 21697813

Clinical prediction guides

Focal segmental glomerulosclerosis and proteinuria associated with Myo1E mutations: novel variants and histological phenotype analysis.
Krendel M, Leh S, Garone ME, Edwards-Richards A, Lin JJ, Brackman D, Knappskog P, Mikhailov A
Pediatr Nephrol 2023 Feb;38(2):439-449. Epub 2022 Jun 20 doi: 10.1007/s00467-022-05634-x. PMID: 35723736Free PMC Article
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: 35920919Free PMC Article
Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome.
Sanna-Cherchi S, Burgess KE, Nees SN, Caridi G, Weng PL, Dagnino M, Bodria M, Carrea A, Allegretta MA, Kim HR, Perry BJ, Gigante M, Clark LN, Kisselev S, Cusi D, Gesualdo L, Allegri L, Scolari F, D'Agati V, Shapiro LS, Pecoraro C, Palomero T, Ghiggeri GM, Gharavi AG
Kidney Int 2011 Aug;80(4):389-96. Epub 2011 Jun 22 doi: 10.1038/ki.2011.148. PMID: 21697813

Supplemental Content

Table of contents

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...