Details of Disease

General Information of Disease (ID: DISV4XYG)

Disease Name Idiopathic nephrotic syndrome
Definition Nephrotic syndrome for which no cause has been identified.
Disease Hierarchy
DISSPSC2: Nephrotic syndrome
DISBBY0S: Idiopathic disease
DISV4XYG: Idiopathic nephrotic syndrome
Disease Identifiers
MONDO ID
MONDO_0018170
MESH ID
C535761
UMLS CUI
C3496337
OMIM ID
600995
MedGen ID
501252
Orphanet ID
357502

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NPHS1 OT21JD3P Limited Genetic Variation [1]
AXDND1 OT3PI5KG moderate Genetic Variation [2]
CABIN1 OT4G5CIK Strong Biomarker [3]
CMIP OTZN8Z4A Strong Biomarker [4]
ESPN OT7Z6LX2 Strong Biomarker [5]
NPHS2 OTLCNUII Strong CausalMutation [6]
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⏷ Show the Full List of 6 DOT(s)

References

1 Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations.Clin J Am Soc Nephrol. 2009 Jun;4(6):1065-72. doi: 10.2215/CJN.03910808. Epub 2009 Apr 30.
2 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.
3 Randomised controlled trial comparing ofatumumab to rituximab in children with steroid-dependent and calcineurin inhibitor-dependent idiopathic nephrotic syndrome: study protocol.BMJ Open. 2017 Mar 17;7(3):e013319. doi: 10.1136/bmjopen-2016-013319.
4 Upregulation of c-mip is closely related to podocyte dysfunction in membranous nephropathy.Kidney Int. 2013 Mar;83(3):414-25. doi: 10.1038/ki.2012.426. Epub 2013 Jan 9.
5 European Society of Pediatric Nephrology survey on current practice regarding recurrent focal segmental glomerulosclerosis after pediatric kidney transplantation.Pediatr Transplant. 2019 May;23(3):e13385. doi: 10.1111/petr.13385. Epub 2019 Mar 1.
6 Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome.J Biol Chem. 2018 Mar 16;293(11):4122-4133. doi: 10.1074/jbc.RA117.001159. Epub 2018 Jan 30.