Details of Disease | DrugMAP

General Information of Disease (ID: DISJKB7I)

Disease Name	Nephrotic syndrome, type 3
Synonyms	NPHS3; nephrotic syndrome, early-onset, type 3; nephrotic syndrome caused by mutation in PLCE1; PLCE1 nephrotic syndrome; nephrotic syndrome, type 3
Definition	Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene.
Disease Hierarchy	DISQ53RS: Familial idiopathic steroid-resistant nephrotic syndrome DISSPSC2: Nephrotic syndrome DISJKB7I: Nephrotic syndrome, type 3
Disease Identifiers	MONDO ID MONDO_0012546 MESH ID C535761 UMLS CUI C1853124 OMIM ID 610725 MedGen ID 377831

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NPHS1	OT21JD3P	Limited	Biomarker	[1]
PLCE1	OTJISZOX	Definitive	Autosomal recessive	[2]
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References

1	Nephrin in experimental glomerular disease.Kidney Int. 2000 Oct;58(4):1461-8. doi: 10.1046/j.1523-1755.2000.00308.x.
2	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.