KEGG   DISEASE: Focal segmental glomerulosclerosis
Entry
H00626                      Disease                                
Name
Focal segmental glomerulosclerosis
  Subgroup
Focal segmental glomerulosclerosis and neurodevelopmental syndrome (FSGSNEDS)
Description
Focal segmental glomerulosclerosis (FSGS) is one of the most common forms of glomerular disorders leading to end stage kidney disease (ESKD). FSGS is defined as a clinicopathologic syndrome manifesting with high-grade proteinuria, associated with lesions of focal and segmental glomerular sclerosis and foot-process effacement. As the disease progresses, a more diffuse and global pattern of sclerosis evolves. FSGS accounts for 7-20 % of idiopathic nephrotic syndrome in children and 40 % in adults. There are two types of FSGS, primary (idiopathic) and secondary forms. The specific cause of primary FSGS has been ill-defined. Secondary FSGS is with recognized etiologic associations, including genetic mutations in podocyte-associated proteins, viruses, and drug toxicities. For the initial treatment of FSGS, corticosteroid and immunosuppressive therapy is recommended.
Category
Urinary system disease
Brite
Human diseases [BR:br08402]
 Urinary system diseases
  Kidney diseases
   H00626  Focal segmental glomerulosclerosis
Human diseases in ICD-11 classification [BR:br08403]
 21 Symptoms, signs or clinical findings, not elsewhere classified
  Symptoms, signs or clinical findings of the genitourinary system
   Clinical findings in specimens from the urinary system
    MF8Y  Other specified clinical findings in specimens from the urinary system
     H00626  Focal segmental glomerulosclerosis
Gene
(FSGS1) ACTN4 [HSA:81] [KO:K05699]
(FSGS2) TRPC6 [HSA:7225] [KO:K04969]
(FSGS3) CD2AP [HSA:23607] [KO:K13738]
(FSGS4) APOL1 [HSA:8542] [KO:K23585]
(FSGS5) INF2 [HSA:64423] [KO:K23958]
(FSGS6) MYO1E [HSA:4643] [KO:K10356]
(FSGS7) PAX2 [HSA:5076] [KO:K15608]
(FSGS8) ANLN [HSA:54443] [KO:K18621]
(FSGS9) CRB2 [HSA:286204] [KO:K16681]
(FSGS10) LMX1B [HSA:4010] [KO:K09371]
(FSGSNEDS) TRIM8 [HSA:81603] [KO:K12001]
Comment
Congenital nephrotic syndrome (NS, H01657) and focal segmental glomerulosclerosis (FSGS) form a spectrum of podocyte diseases.
Other DBs
ICD-11: MF8Y
ICD-10: N05.1
MeSH: D005923
OMIM: 603278 603965 607832 612551 613237 614131 616002 616032 616220 256020 619428
Reference
  Authors
Lowik MM, Groenen PJ, Levtchenko EN, Monnens LA, van den Heuvel LP
  Title
Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review.
  Journal
Eur J Pediatr 168:1291-304 (2009)
DOI:10.1007/s00431-009-1017-x
Reference
PMID:14750104 (FSGS1)
  Authors
D'Agati VD, Fogo AB, Bruijn JA, Jennette JC
  Title
Pathologic classification of focal segmental glomerulosclerosis: a working proposal.
  Journal
Am J Kidney Dis 43:368-82 (2004)
DOI:10.1053/j.ajkd.2003.10.024
Reference
PMID:15879175 (FSGS2)
  Authors
Winn MP, Conlon PJ, Lynn KL, Farrington MK, Creazzo T, Hawkins AF, Daskalakis N, Kwan SY, Ebersviller S, Burchette JL, Pericak-Vance MA, Howell DN, Vance JM, Rosenberg PB
  Title
A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis.
  Journal
Science 308:1801-4 (2005)
DOI:10.1126/science.1106215
Reference
PMID:17713465 (FSGS3)
  Authors
Lowik MM, Groenen PJ, Pronk I, Lilien MR, Goldschmeding R, Dijkman HB, Levtchenko EN, Monnens LA, van den Heuvel LP
  Title
Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation.
  Journal
Kidney Int 72:1198-203 (2007)
DOI:10.1038/sj.ki.5002469
Reference
PMID:20647424 (FSGS4)
  Authors
Genovese G, Friedman DJ, Ross MD, Lecordier L, Uzureau P, Freedman BI, Bowden DW, Langefeld CD, Oleksyk TK, Uscinski Knob AL, Bernhardy AJ, Hicks PJ, Nelson GW, Vanhollebeke B, Winkler CA, Kopp JB, Pays E, Pollak MR
  Title
Association of trypanolytic ApoL1 variants with kidney disease in African Americans.
  Journal
Science 329:841-5 (2010)
DOI:10.1126/science.1193032
Reference
PMID:20023659 (FSGS5)
  Authors
Brown EJ, Schlondorff JS, Becker DJ, Tsukaguchi H, Tonna SJ, Uscinski AL, Higgs HN, Henderson JM, Pollak MR
  Title
Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.
  Journal
Nat Genet 42:72-6 (2010)
DOI:10.1038/ng.505
Reference
PMID:21756023 (FSGS6)
  Authors
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
  Title
MYO1E mutations and childhood familial focal segmental glomerulosclerosis.
  Journal
N Engl J Med 365:295-306 (2011)
DOI:10.1056/NEJMoa1101273
Reference
PMID:24676634 (FSGS7)
  Authors
Barua M, Stellacci E, Stella L, Weins A, Genovese G, Muto V, Caputo V, Toka HR, Charoonratana VT, Tartaglia M, Pollak MR
  Title
Mutations in PAX2 associate with adult-onset FSGS.
  Journal
J Am Soc Nephrol 25:1942-53 (2014)
DOI:10.1681/ASN.2013070686
Reference
PMID:24676636 (FSGS8)
  Authors
Gbadegesin RA, Hall G, Adeyemo A, Hanke N, Tossidou I, Burchette J, Wu G, Homstad A, Sparks MA, Gomez J, Jiang R, Alonso A, Lavin P, Conlon P, Korstanje R, Stander MC, Shamsan G, Barua M, Spurney R, Singhal PC, Kopp JB, Haller H, Howell D, Pollak MR, Shaw AS, Schiffer M, Winn MP
  Title
Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS.
  Journal
J Am Soc Nephrol 25:1991-2002 (2014)
DOI:10.1681/ASN.2013090976
Reference
PMID:25557779 (FSGS9)
  Authors
Ebarasi L, Ashraf S, Bierzynska A, Gee HY, McCarthy HJ, Lovric S, Sadowski CE, Pabst W, Vega-Warner V, Fang H, Koziell A, Simpson MA, Dursun I, Serdaroglu E, Levy S, Saleem MA, Hildebrandt F, Majumdar A
  Title
Defects of CRB2 cause steroid-resistant nephrotic syndrome.
  Journal
Am J Hum Genet 96:153-61 (2015)
DOI:10.1016/j.ajhg.2014.11.014
Reference
PMID:23687361 (FSGS10)
  Authors
Boyer O, Woerner S, Yang F, Oakeley EJ, Linghu B, Gribouval O, Tete MJ, Duca JS, Klickstein L, Damask AJ, Szustakowski JD, Heibel F, Matignon M, Baudouin V, Chantrel F, Champigneulle J, Martin L, Nitschke P, Gubler MC, Johnson KJ, Chibout SD, Antignac C
  Title
LMX1B mutations cause hereditary FSGS without extrarenal involvement.
  Journal
J Am Soc Nephrol 24:1216-22 (2013)
DOI:10.1681/ASN.2013020171
Reference
PMID:32531461 (FSGSNEDS)
  Authors
McClatchey MA, du Toit ZD, Vaughan R, Whatley SD, Martins S, Hegde S, Naude JTW, Thomas DH, Griffiths DF, Genomics England Research Consortium, Clarke AJ, Fry AE
  Title
Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation.
  Journal
Eur J Med Genet 63:103972 (2020)
DOI:10.1016/j.ejmg.2020.103972
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