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Inherited focal segmental glomerulosclerosis

MedGen UID:
1008296
•Concept ID:
CN327126
•
Disease or Syndrome
Synonym: inherited focal segmental glomerulosclerosis
 
Related genes: CRB2, INF2, ANLN, CD2AP, APOL1, TRPC6, PAX2, MYO1E, LMX1B, ACTN4
 
Monarch Initiative: MONDO:0005363
OMIM® Phenotypic series: PS603278

Definition

An instance of focal segmental glomerulosclerosis that is caused by an inherited genomic modification in an individual. [from MONDO]

Professional guidelines

PubMed

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Savige J, Storey H, Watson E, Hertz JM, Deltas C, Renieri A, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Lipska-Ziętkiewicz BS
Eur J Hum Genet 2021 Aug;29(8):1186-1197. Epub 2021 Apr 15 doi: 10.1038/s41431-021-00858-1. PMID: 33854215Free PMC Article
Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, Deltas C, Flinter F, Ding J, Gale DP, Nagel M, Yau M, Shagam L, Torra R, Ars E, Hoefele J, Garosi G, Storey H
Pediatr Nephrol 2019 Jul;34(7):1175-1189. Epub 2018 Jul 9 doi: 10.1007/s00467-018-3985-4. PMID: 29987460
Cystinosis: practical tools for diagnosis and treatment.
Wilmer MJ, Schoeber JP, van den Heuvel LP, Levtchenko EN
Pediatr Nephrol 2011 Feb;26(2):205-15. Epub 2010 Aug 24 doi: 10.1007/s00467-010-1627-6. PMID: 20734088Free PMC Article

Recent clinical studies

Diagnosis

Nonlinear viscoelasticity of actin transiently cross-linked with mutant α-actinin-4.
Yao NY, Becker DJ, Broedersz CP, Depken M, Mackintosh FC, Pollak MR, Weitz DA
J Mol Biol 2011 Sep 2;411(5):1062-71. Epub 2011 Jul 6 doi: 10.1016/j.jmb.2011.06.049. PMID: 21762701Free PMC Article

Therapy

Posttransplant recurrence of proteinuria in a case of focal segmental glomerulosclerosis associated with WT1 mutation.
Ghiggeri GM, Aucella F, Caridi G, Bisceglia L, Ghio L, Gigante M, Perfumo F, Carraro M, Gesualdo L
Am J Transplant 2006 Sep;6(9):2208-11. Epub 2006 Jun 19 doi: 10.1111/j.1600-6143.2006.01418.x. PMID: 16780544

Clinical prediction guides

Nonlinear viscoelasticity of actin transiently cross-linked with mutant α-actinin-4.
Yao NY, Becker DJ, Broedersz CP, Depken M, Mackintosh FC, Pollak MR, Weitz DA
J Mol Biol 2011 Sep 2;411(5):1062-71. Epub 2011 Jul 6 doi: 10.1016/j.jmb.2011.06.049. PMID: 21762701Free PMC Article
Posttransplant recurrence of proteinuria in a case of focal segmental glomerulosclerosis associated with WT1 mutation.
Ghiggeri GM, Aucella F, Caridi G, Bisceglia L, Ghio L, Gigante M, Perfumo F, Carraro M, Gesualdo L
Am J Transplant 2006 Sep;6(9):2208-11. Epub 2006 Jun 19 doi: 10.1111/j.1600-6143.2006.01418.x. PMID: 16780544
A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13.
Mathis BJ, Kim SH, Calabrese K, Haas M, Seidman JG, Seidman CE, Pollak MR
Kidney Int 1998 Feb;53(2):282-6. doi: 10.1046/j.1523-1755.1998.00828.x. PMID: 9461087

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