Details of Disease

General Information of Disease (ID: DISIRFO1)

Disease Name Nephrotic syndrome, type 2
Synonyms
SRN1; nephrotic syndrome, idiopathic, steroid-resistant; NPHS2; nephrotic syndrome, steroid-resistant, autosomal recessive; nephrotic syndrome, type 2; nephrotic syndrome caused by mutation in NPHS2; NPHS2 nephrotic syndrome
Definition Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene.
Disease Hierarchy
DISQ53RS: Familial idiopathic steroid-resistant nephrotic syndrome
DISSPSC2: Nephrotic syndrome
DISIRFO1: Nephrotic syndrome, type 2
Disease Identifiers
MONDO ID
MONDO_0010974
MESH ID
C536404
UMLS CUI
C1868672
MedGen ID
358380
SNOMED CT ID
1260194003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
APOL1 TTDB8PW Limited SusceptibilityMutation [1]
WT1 TTZ8UT4 Limited CausalMutation [2]
TRPC6 TTRBT3W Definitive GermlineCausalMutation [3]
------------------------------------------------------------------------------------
This Disease Is Related to 27 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACTN4 OTCNZAJ5 Limited Genetic Variation [4]
COL4A3 OT6SB8X5 Limited GermlineModifyingMutation [5]
NPHS1 OT21JD3P Limited GermlineCausalMutation [6]
MYO1E OTM9YSIZ Disputed GermlineCausalMutation [7]
NUP133 OTC294HE Disputed GermlineCausalMutation [8]
NUP160 OTUKVV3I Disputed GermlineCausalMutation [8]
NUP37 OTPZH72U Disputed GermlineCausalMutation [8]
NUP85 OTB5ZHC8 Disputed GermlineCausalMutation [8]
AXDND1 OT3PI5KG moderate Genetic Variation [9]
ANKFY1 OTHT028D Strong GermlineCausalMutation [10]
ANLN OTXJY54C Strong GermlineCausalMutation [11]
ARHGAP24 OTCQCEZS Strong GermlineCausalMutation [12]
ARHGDIA OTEXWJDO Strong GermlineCausalMutation [13]
CD2AP OTC76KQM Strong GermlineCausalMutation [14]
COQ8B OTBY50BD Strong GermlineCausalMutation [15]
CRB2 OTG0L2CE Strong GermlineCausalMutation [16]
EMP2 OTPS2H0L Strong GermlineCausalMutation [17]
GAPVD1 OT5K42IK Strong GermlineCausalMutation [10]
INF2 OT8ZM13C Strong GermlineCausalMutation [18]
NUP107 OTG4RDYS Strong GermlineCausalMutation [19]
NUP205 OTJKHCY6 Strong Biomarker [20]
NUP93 OT4J2VAL Strong Biomarker [20]
PLCE1 OTJISZOX Strong GermlineCausalMutation [21]
TBC1D8B OTSYGOXH Strong GermlineCausalMutation [22]
NPHS2 OTLCNUII Definitive Autosomal recessive [23]
PAX2 OTKP1N8F Definitive GermlineCausalMutation [24]
PTPRO OTFLKWOY Definitive GermlineCausalMutation [25]
------------------------------------------------------------------------------------
⏷ Show the Full List of 27 DOT(s)

References

1 A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis.J Clin Invest. 2016 Mar 1;126(3):1067-78. doi: 10.1172/JCI82592. Epub 2016 Feb 22.
2 Genetic screening in adolescents with steroid-resistant nephrotic syndrome.Kidney Int. 2013 Jul;84(1):206-13. doi: 10.1038/ki.2013.93. Epub 2013 Mar 20.
3 A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. Science. 2005 Jun 17;308(5729):1801-4. doi: 10.1126/science.1106215. Epub 2005 May 5.
4 A locus for adolescent and adult onset familial focal segmental glomerulosclerosis on chromosome 1q25-31.J Am Soc Nephrol. 2000 Sep;11(9):1674-1680. doi: 10.1681/ASN.V1191674.
5 Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.Eur J Hum Genet. 2015 Sep;23(9):1192-9. doi: 10.1038/ejhg.2014.252. Epub 2014 Nov 19.
6 Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.Kidney Int. 2009 Dec;76(12):1268-76. doi: 10.1038/ki.2009.381. Epub 2009 Oct 7.
7 MYO1E mutations and childhood familial focal segmental glomerulosclerosis. N Engl J Med. 2011 Jul 28;365(4):295-306. doi: 10.1056/NEJMoa1101273. Epub 2011 Jul 14.
8 Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. J Clin Invest. 2018 Oct 1;128(10):4313-4328. doi: 10.1172/JCI98688. Epub 2018 Sep 4.
9 Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome.Clin J Am Soc Nephrol. 2016 Feb 5;11(2):245-53. doi: 10.2215/CJN.07370715. Epub 2015 Dec 14.
10 GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. J Am Soc Nephrol. 2018 Aug;29(8):2123-2138. doi: 10.1681/ASN.2017121312. Epub 2018 Jun 29.
11 Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS. J Am Soc Nephrol. 2014 Sep;25(9):1991-2002. doi: 10.1681/ASN.2013090976. Epub 2014 Mar 27.
12 Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis. J Clin Invest. 2011 Oct;121(10):4127-37. doi: 10.1172/JCI46458. Epub 2011 Sep 12.
13 ARHGDIA: a novel gene implicated in nephrotic syndrome. J Med Genet. 2013 May;50(5):330-8. doi: 10.1136/jmedgenet-2012-101442. Epub 2013 Feb 22.
14 Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation. Kidney Int. 2007 Nov;72(10):1198-203. doi: 10.1038/sj.ki.5002469. Epub 2007 Aug 22.
15 ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest. 2013 Dec;123(12):5179-89. doi: 10.1172/JCI69000. Epub 2013 Nov 25.
16 Defects of CRB2 cause steroid-resistant nephrotic syndrome. Am J Hum Genet. 2015 Jan 8;96(1):153-61. doi: 10.1016/j.ajhg.2014.11.014. Epub 2014 Dec 31.
17 Mutations in EMP2 cause childhood-onset nephrotic syndrome. Am J Hum Genet. 2014 Jun 5;94(6):884-90. doi: 10.1016/j.ajhg.2014.04.010. Epub 2014 May 8.
18 Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. Nat Genet. 2010 Jan;42(1):72-6. doi: 10.1038/ng.505. Epub 2009 Dec 20.
19 Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome. Am J Hum Genet. 2015 Oct 1;97(4):555-66. doi: 10.1016/j.ajhg.2015.08.013. Epub 2015 Sep 24.
20 Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. Nat Genet. 2016 Apr;48(4):457-65. doi: 10.1038/ng.3512. Epub 2016 Feb 15.
21 Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome. J Med Genet. 2010 Jul;47(7):445-52. doi: 10.1136/jmg.2009.076166.
22 TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways. Am J Hum Genet. 2019 Feb 7;104(2):348-355. doi: 10.1016/j.ajhg.2018.12.016. Epub 2019 Jan 17.
23 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
24 Mutations in PAX2 associate with adult-onset FSGS. J Am Soc Nephrol. 2014 Sep;25(9):1942-53. doi: 10.1681/ASN.2013070686. Epub 2014 Mar 27.
25 Disruption of PTPRO causes childhood-onset nephrotic syndrome. Am J Hum Genet. 2011 Jul 15;89(1):139-47. doi: 10.1016/j.ajhg.2011.05.026. Epub 2011 Jun 30.