Details of Disease

General Information of Disease (ID: DISADF8G)

Disease Name Familial nephrotic syndrome
Synonyms hereditary nephrotic syndrome; congenital nephrotic syndrome
Definition An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome.
Disease Hierarchy
DISSPSC2: Nephrotic syndrome
DISNCQLA: Inherited kidney disorder
DISADF8G: Familial nephrotic syndrome
Disease Identifiers
MONDO ID
MONDO_0002350
MESH ID
C535761
UMLS CUI
C3501848
MedGen ID
502251
HPO ID
HP:0008677
SNOMED CT ID
48796009

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
AFP TTCFEA1 Limited Biomarker [1]
SGPL1 TT618Q2 Limited Biomarker [2]
SIRPA TTBRJS9 Limited Genetic Variation [3]
WT1 TTZ8UT4 Strong Genetic Variation [4]
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This Disease Is Related to 13 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COQ8B OTBY50BD Limited Genetic Variation [5]
INF2 OT8ZM13C Limited Genetic Variation [6]
ITGA3 OTBCH21D Limited Genetic Variation [7]
NPHP1 OTZHCFFQ Limited Genetic Variation [8]
PLCE1 OTJISZOX Limited Genetic Variation [4]
RAPGEF2 OTZWX2AA Limited Genetic Variation [9]
NPHS2 OTLCNUII moderate Genetic Variation [4]
APLP1 OTD176ZS Strong Genetic Variation [10]
LAMB2 OT71OI2Y Strong Genetic Variation [11]
NPHS1 OT21JD3P Strong Genetic Variation [12]
PODXL OTPNQXF3 Strong Biomarker [13]
TREH OTJE0NOY Strong Altered Expression [14]
CRB2 OTG0L2CE Definitive Genetic Variation [15]
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⏷ Show the Full List of 13 DOT(s)

References

1 Nephrotic and nephritic syndrome in the newborn.Clin Perinatol. 2014 Sep;41(3):605-18. doi: 10.1016/j.clp.2014.05.009. Epub 2014 Jul 18.
2 A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation.Brain Dev. 2018 Jun;40(6):480-483. doi: 10.1016/j.braindev.2018.02.008. Epub 2018 Mar 2.
3 SIRP interacts with nephrin at the podocyte slit diaphragm.FEBS J. 2012 Sep;279(17):3010-21. doi: 10.1111/j.1742-4658.2012.08682.x. Epub 2012 Jul 23.
4 Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1.Pediatr Nephrol. 2018 Jul;33(7):1269-1272. doi: 10.1007/s00467-018-3961-z. Epub 2018 Apr 16.
5 Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.Pediatr Nephrol. 2017 Jul;32(7):1181-1192. doi: 10.1007/s00467-017-3590-y. Epub 2017 Feb 15.
6 Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis.Kidney Int. 2013 Feb;83(2):316-22. doi: 10.1038/ki.2012.349. Epub 2012 Sep 26.
7 Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations.Orphanet J Rare Dis. 2016 Oct 7;11(1):136. doi: 10.1186/s13023-016-0514-z.
8 Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report.BMC Pediatr. 2016 Mar 22;16:44. doi: 10.1186/s12887-016-0583-0.
9 Disruption of MAGI2-RapGEF2-Rap1 signaling contributes to podocyte dysfunction in congenital nephrotic syndrome caused by mutations in MAGI2.Kidney Int. 2019 Sep;96(3):642-655. doi: 10.1016/j.kint.2019.03.016. Epub 2019 Mar 28.
10 Structure of the human amyloid-precursor-like protein gene APLP1 at 19q13.1.Hum Genet. 1998 Feb;102(2):192-6. doi: 10.1007/s004390050676.
11 Mutations in LAMB2 Are Associated With Albuminuria and Optic Nerve Hypoplasia With Hypopituitarism.J Clin Endocrinol Metab. 2020 Mar 1;105(3):595-9. doi: 10.1210/clinem/dgz216.
12 Urinary proteome signature of Renal Cysts and Diabetes syndrome in children.Sci Rep. 2019 Feb 18;9(1):2225. doi: 10.1038/s41598-019-38713-5.
13 Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.Kidney Int. 2017 Apr;91(4):937-947. doi: 10.1016/j.kint.2016.10.013. Epub 2017 Jan 20.
14 Prenatal detection of the congenital nephrotic syndrome (Finnish type) by trehalase assay in amniotic fluid.Prenat Diagn. 1984 Jul-Aug;4(4):257-60. doi: 10.1002/pd.1970040404.
15 Association of crumbs homolog-2 with mTORC1 in developing podocyte.PLoS One. 2018 Aug 20;13(8):e0202400. doi: 10.1371/journal.pone.0202400. eCollection 2018.