KEGG   DISEASE: Nephrotic syndrome
H01657                      Disease                                
Nephrotic syndrome
Nephrotic syndrome (NPHS) is a heterogeneous group of disorders characterized by heavy proteinuria (more than 3.5 grams per day), hypoalbuminemia, hyperlipidemia, and edema. Congenital nephrotic syndrome is most frequently related to mutations in genes specific for structural integrity of the glomerular basement membrane and associated filtration structures within the kidney, resulting in massive leakage of plasma proteins into the urine. First line treatment is with oral corticosteroids, but some patients do not respond to this treatment. Steroid-resistant nephrotic syndrome (SRNS) typically manifests histologically as focal segmental glomerulosclerosis. Calcineurin inhibitors with/without intravenous methylprednisolone pulse therapy (MPT) constitute the standard treatment for SRNS. It has been reported that additional rituximab treatment combined with conventional MPT and immunosuppressive agents is a promising option.
Urinary system disease
Human diseases [BR:br08402]
 Urinary system diseases
  Kidney diseases
   H01657  Nephrotic syndrome
Human diseases in ICD-11 classification [BR:br08403]
 16 Diseases of the genitourinary system
  Diseases of the urinary system
   Glomerular diseases
    GB41  Nephrotic syndrome
     H01657  Nephrotic syndrome
(NPHS1) NPHS1 [HSA:4868] [KO:K24496]
(NPHS2) NPHS2 [HSA:7827] [KO:K18268]
(NPHS3) PLCE1 [HSA:51196] [KO:K05860]
(NPHS4) WT1 [HSA:7490] [KO:K09234]
(NPHS5) LAMB2 [HSA:3913] [KO:K06243]
(NPHS6) PTPRO [HSA:5800] [KO:K18035]
(NPHS7) DGKE [HSA:8526] [KO:K00901]
(NPHS8) ARHGDIA [HSA:396] [KO:K12462]
(NPHS9) COQ8B [HSA:79934] [KO:K08869]
(NPHS10) EMP2 [HSA:2013] [KO:K26256]
(NPHS11) NUP107 [HSA:57122] [KO:K14301]
(NPHS12) NUP93 [HSA:9688] [KO:K14309]
(NPHS13) NUP205 [HSA:23165] [KO:K14310]
(NPHS14) SGPL1 [HSA:8879] [KO:K01634]
(NPHS15) MAGI2 [HSA:9863] [KO:K05629]
(NPHS16) KANK2 [HSA:25959] [KO:K22808]
(NPHS17) NUP85 [HSA:79902] [KO:K14304]
(NPHS18) NUP133 [HSA:55746] [KO:K14300]
(NPHS19) NUP160 [HSA:23279] [KO:K14303]
(NPHS20) TBC1D8B [HSA:54885] [KO:K19951]
(NPHS21/25) AVIL [HSA:10677] [KO:K08017]
(NPHS22) NOS1AP [HSA:9722] [KO:K16513]
(NPHS23) KIRREL1 [HSA:55243] [KO:K25874]
(NPHS24) DAAM2 [HSA:23500] [KO:K04512]
(NPHS26) LAMA5 [HSA:3911] [KO:K06240]
Triamcinolone acetonide [DR:D00983]
Dexamethasone [DR:D00292]
Dexamethasone sodium phosphate [DR:D00975]
Hydrocortisone [DR:D00088]
Hydrocortisone sodium succinate [DR:D00978]
Prednisolone [DR:D00472]
Prednisolone sodium phosphate [DR:D00981]
Chlorothiazide sodium [DR:D03471]
Chlorthalidone [DR:D00272]
Metolazone [DR:D00431]
Bumetanide [DR:D00247]
Ethacrynic acid [DR:D00313]
Spironolactone [DR:D00443]
Spironolactone and hydrochlorothiazide [DR:D10270]
Methylprednisolone [DR:D00407]
Corticotropin [DR:D00146]
Cyclophosphamide [DR:D00287]
Other DBs
ICD-11: GB41
ICD-10: N04
MeSH: D009404
OMIM: 256300 600995 610725 256370 614199 614196 615008 615244 615573 615861 616730 616892 616893 617575 617609 617783 618176 618177 618178 301028 618594 619155 619201 619263 620049
Gubler MC
Nephrotic syndrome: Genetic testing in steroid-resistant nephrotic syndrome.
Nat Rev Nephrol 7:430-1 (2011)
Benoit G, Machuca E, Heidet L, Antignac C
Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes.
Ann N Y Acad Sci 1214:83-98 (2010)
PMID:28117080 (NPHS1-13)
Bierzynska A, McCarthy HJ, Soderquest K, Sen ES, Colby E, Ding WY, Nabhan MM, Kerecuk L, Hegde S, Hughes D, Marks S, Feather S, Jones C, Webb NJ, Ognjanovic M, Christian M, Gilbert RD, Sinha MD, Lord GM, Simpson M, Koziell AB, Welsh GI, Saleem MA
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
Kidney Int 91:937-947 (2017)
PMID:28181337 (NPHS14)
Janecke AR, Xu R, Steichen-Gersdorf E, Waldegger S, Entenmann A, Giner T, Krainer I, Huber LA, Hess MW, Frishberg Y, Barash H, Tzur S, Schreyer-Shafir N, Sukenik-Halevy R, Zehavi T, Raas-Rothschild A, Mao C, Muller T
Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.
Hum Mutat 38:365-372 (2017)
PMID:27932480 (NPHS15)
Bierzynska A, Soderquest K, Dean P, Colby E, Rollason R, Jones C, Inward CD, McCarthy HJ, Simpson MA, Lord GM, Williams M, Welsh GI, Koziell AB, Saleem MA
MAGI2 Mutations Cause Congenital Nephrotic Syndrome.
J Am Soc Nephrol 28:1614-1621 (2017)
PMID:25961457 (NPHS16)
Gee HY, Zhang F, Ashraf S, Kohl S, Sadowski CE, Vega-Warner V, Zhou W, Lovric S, Fang H, Nettleton M, Zhu JY, Hoefele J, Weber LT, Podracka L, Boor A, Fehrenbach H, Innis JW, Washburn J, Levy S, Lifton RP, Otto EA, Han Z, Hildebrandt F
KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.
J Clin Invest 125:2375-84 (2015)
PMID:30179222 (NPHS12_13_17_18_19)
Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, Daga A, Widmeier E, Rao J, Ashraf S, Tan W, Lusk CP, Kolb A, Jobst-Schwan T, Schmidt JM, Hoogstraten CA, Eddy K, Kitzler TM, Shril S, Moawia A, Schrage K, Khayyat AIA, Lawson JA, Gee HY, Warejko JK, Hermle T, Majmundar AJ, Hugo H, Budde B, Motameny S, Altmuller J, Noegel AA, Fathy HM, Gale DP, Waseem SS, Khan A, Kerecuk L, Hashmi S, Mohebbi N, Ettenger R, Serdaroglu E, Alhasan KA, Hashem M, Goncalves S, Ariceta G, Ubetagoyena M, Antonin W, Baig SM, Alkuraya FS, Shen Q, Xu H, Antignac C, Lifton RP, Mane S, Nurnberg P, Khokha MK, Hildebrandt F
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
J Clin Invest 128:4313-4328 (2018)
PMID:29058690 (NPHS21)
Rao J, Ashraf S, Tan W, van der Ven AT, Gee HY, Braun DA, Feher K, George SP, Esmaeilniakooshkghazi A, Choi WI, Jobst-Schwan T, Schneider R, Schmidt JM, Widmeier E, Warejko JK, Hermle T, Schapiro D, Lovric S, Shril S, Daga A, Nayir A, Shenoy M, Tse Y, Bald M, Helmchen U, Mir S, Berdeli A, Kari JA, El Desoky S, Soliman NA, Bagga A, Mane S, Jairajpuri MA, Lifton RP, Khurana S, Martins JC, Hildebrandt F
Advillin acts upstream of phospholipase C 1 in steroid-resistant nephrotic syndrome.
J Clin Invest 127:4257-4269 (2017)
PMID:33523862 (NPHS22)
Majmundar AJ, Buerger F, Forbes TA, Klambt V, Schneider R, Deutsch K, Kitzler TM, Howden SE, Scurr M, Tan KS, Krzeminski M, Widmeier E, Braun DA, Lai E, Ullah I, Amar A, Kolb A, Eddy K, Chen CH, Salmanullah D, Dai R, Nakayama M, Ottlewski I, Kolvenbach CM, Onuchic-Whitford AC, Mao Y, Mann N, Nabhan MM, Rosen S, Forman-Kay JD, Soliman NA, Heilos A, Kain R, Aufricht C, Mane S, Lifton RP, Shril S, Little MH, Hildebrandt F
Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice.
Sci Adv 7:eabe1386 (2021)
PMID:31472902 (NPHS23)
Solanki AK, Widmeier E, Arif E, Sharma S, Daga A, Srivastava P, Kwon SH, Hugo H, Nakayama M, Mann N, Majmundar AJ, Tan W, Gee HY, Sadowski CE, Rinat C, Becker-Cohen R, Bergmann C, Rosen S, Somers M, Shril S, Huber TB, Mane S, Hildebrandt F, Nihalani D
Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome.
Kidney Int 96:883-889 (2019)
PMID:33232676 (NPHS24)
Schneider R, Deutsch K, Hoeprich GJ, Marquez J, Hermle T, Braun DA, Seltzsam S, Kitzler TM, Mao Y, Buerger F, Majmundar AJ, Onuchic-Whitford AC, Kolvenbach CM, Schierbaum L, Schneider S, Halawi AA, Nakayama M, Mann N, Connaughton DM, Klambt V, Wagner M, Riedhammer KM, Renders L, Katsura Y, Thumkeo D, Soliman NA, Mane S, Lifton RP, Shril S, Khokha MK, Hoefele J, Goode BL, Hildebrandt F
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.
Am J Hum Genet 107:1113-1128 (2020)
PMID:29534211 (NPHS26)
Braun DA, Warejko JK, Ashraf S, Tan W, Daga A, Schneider R, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Nakayama M, Schapiro D, Rao J, Schmidt JM, Hoogstraten CA, Hugo H, Bakkaloglu SA, Kari JA, El Desoky S, Daouk G, Mane S, Lifton RP, Shril S, Hildebrandt F
Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome.
Nephrol Dial Transplant 34:485-493 (2019)

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