Details of Disease

General Information of Disease (ID: DISVEBC9)

Disease Name Steroid-resistant nephrotic syndrome
Synonyms
NPHS2; SRNS - steroid-resistant nephrotic syndrome; steroid-unresponsive nephrotic syndrome; nephrotic syndrome, idiopathic, steroid-resistant; nephrotic syndrome, steroid-resistant, autosomal recessive; nephrotic syndrome of childhood - steroid resistant; steroid-resistant nephrotic syndrome; nephrotic syndrome-steroid-resistant
Definition
Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids.
Disease Hierarchy
DISSPSC2: Nephrotic syndrome
DISVEBC9: Steroid-resistant nephrotic syndrome
Disease Identifiers
MONDO ID
MONDO_0044765
UMLS CUI
C0403397
MedGen ID
588369
HPO ID
HP:0012588
SNOMED CT ID
236381000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
WT1 TTZ8UT4 moderate Genetic Variation [1]
APOL1 TTDB8PW Strong Genetic Variation [2]
ARSB TTESQTG Strong Genetic Variation [3]
SGPL1 TT618Q2 Strong Genetic Variation [4]
------------------------------------------------------------------------------------
This Disease Is Related to 28 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COL4A3 OT6SB8X5 Limited Genetic Variation [5]
PLCE1 OTJISZOX Limited Genetic Variation [6]
LAGE3 OTKBQHZI moderate Genetic Variation [7]
NUP160 OTUKVV3I moderate Biomarker [8]
OSGEP OT38HX9V moderate Genetic Variation [7]
SMARCAL1 OTTKXLUZ moderate Biomarker [9]
TP53RK OTARRZAB moderate Genetic Variation [7]
TPRKB OTV4QEVT moderate Genetic Variation [7]
AVIL OTUK67IT Strong Biomarker [10]
CD2AP OTC76KQM Strong Biomarker [11]
COQ2 OTDAKEY4 Strong Genetic Variation [3]
COQ6 OTZWW1FX Strong Genetic Variation [12]
COQ7 OTSLAEUP Strong Biomarker [13]
COQ8B OTBY50BD Strong Genetic Variation [14]
CRB2 OTG0L2CE Strong Genetic Variation [15]
GUK1 OTLI0HRU Strong Biomarker [16]
LAMB2 OT71OI2Y Strong Biomarker [17]
MAGI2 OTXDDKZS Strong Genetic Variation [18]
NPHS1 OT21JD3P Strong Biomarker [19]
NUP107 OTG4RDYS Strong Genetic Variation [20]
NUP205 OTJKHCY6 Strong Genetic Variation [8]
NUP93 OT4J2VAL Strong Genetic Variation [21]
RAB11A OTC4FW0J Strong Biomarker [22]
TBC1D8B OTSYGOXH Strong Genetic Variation [23]
COQ9 OTM2T1FI Definitive Biomarker [24]
KIRREL1 OTOA7ON7 Definitive Genetic Variation [25]
MYO1E OTM9YSIZ Definitive Genetic Variation [26]
NEIL1 OTHBU5DJ Definitive Genetic Variation [26]
------------------------------------------------------------------------------------
⏷ Show the Full List of 28 DOT(s)

References

1 WT1 mutation-associated nephropathy: asingle-center experience?"Yue Z. Lin H
2 APOL1 risk genotype in European steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis patients of different African ancestries.Nephrol Dial Transplant. 2019 Nov 1;34(11):1885-1893. doi: 10.1093/ndt/gfy176.
3 A steroid-resistant nephrotic syndrome in an infant resulting from a consanguineous marriage with COQ2 and ARSB gene mutations: a case report.BMC Med Genet. 2019 Oct 28;20(1):165. doi: 10.1186/s12881-019-0898-4.
4 SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency.J Clin Endocrinol Metab. 2019 May 1;104(5):1484-1490. doi: 10.1210/jc.2018-02238.
5 Exploring the Clinical and Genetic Spectrum of Steroid Resistant Nephrotic Syndrome: The PodoNet Registry.Front Pediatr. 2018 Jul 17;6:200. doi: 10.3389/fped.2018.00200. eCollection 2018.
6 Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern.Clin Exp Nephrol. 2017 Aug;21(4):677-684. doi: 10.1007/s10157-016-1331-3. Epub 2016 Aug 29.
7 Nephrological and urological complications of homozygous c.974G>A (p.Arg325Gln) OSGEP mutations.Pediatr Nephrol. 2018 Nov;33(11):2201-2204. doi: 10.1007/s00467-018-4060-x. Epub 2018 Aug 23.
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 Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.PLoS One. 2017 Aug 10;12(8):e0180926. doi: 10.1371/journal.pone.0180926. eCollection 2017.
10 Advillin acts upstream of phospholipase C ?1 in steroid-resistant nephrotic syndrome. J Clin Invest. 2017 Dec 1;127(12):4257-4269. doi: 10.1172/JCI94138. Epub 2017 Oct 23.
11 Mutational analysis of podocyte genes in children with sporadic steroid-resistant nephrotic syndrome.Genet Mol Res. 2014 Nov 11;13(4):9514-22. doi: 10.4238/2014.November.11.16.
12 Treatment with 2,4-Dihydroxybenzoic Acid Prevents FSGS Progression and Renal Fibrosis in Podocyte-Specific Coq6 Knockout Mice.J Am Soc Nephrol. 2019 Mar;30(3):393-405. doi: 10.1681/ASN.2018060625. Epub 2019 Feb 8.
13 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.
14 Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function.Hum Mutat. 2018 Mar;39(3):406-414. doi: 10.1002/humu.23376. Epub 2017 Dec 18.
15 Long-term clinicopathologic observation in a case of steroid-resistant nephrotic syndrome caused by a novel Crumbs homolog 2 mutation.Nephrology (Carlton). 2018 Jul;23(7):697-702. doi: 10.1111/nep.13244.
16 MAGI2 Mutations Cause Congenital Nephrotic Syndrome.J Am Soc Nephrol. 2017 May;28(5):1614-1621. doi: 10.1681/ASN.2016040387. Epub 2016 Dec 8.
17 LAMB2 mutation with different phenotypes in China?"Zhang H. Wang F
18 Corticosteroid treatment exacerbates nephrotic syndrome in a zebrafish model of magi2a knockout.Kidney Int. 2019 May;95(5):1079-1090. doi: 10.1016/j.kint.2018.12.026. Epub 2019 Mar 5.
19 Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93.Pediatr Nephrol. 2018 Aug;33(8):1347-1363. doi: 10.1007/s00467-018-3950-2. Epub 2018 Jun 4.
20 Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome. Ann Neurol. 2018 Dec;84(6):814-828. doi: 10.1002/ana.25370.
21 Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome.J Hum Genet. 2019 Jul;64(7):673-679. doi: 10.1038/s10038-019-0606-4. Epub 2019 Apr 23.
22 TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome.J Am Soc Nephrol. 2019 Dec;30(12):2338-2353. doi: 10.1681/ASN.2019040414. Epub 2019 Nov 15.
23 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.
24 Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.J Inherit Metab Dis. 2015 Jan;38(1):145-56. doi: 10.1007/s10545-014-9749-9. Epub 2014 Aug 5.
25 Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome.Kidney Int. 2019 Oct;96(4):883-889. doi: 10.1016/j.kint.2019.06.016. Epub 2019 Jul 10.
26 Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome.Kidney Int. 2011 Aug;80(4):389-96. doi: 10.1038/ki.2011.148. Epub 2011 Jun 22.