Details of Disease | DrugMAP

General Information of Disease (ID: DIS8P7EH)

Disease Name	Congenital nephrotic syndrome, Finnish type
Synonyms	nephrotic syndrome, congenital; congenital nephrotic syndrome Finnish type; CnF; congenital nephrotic syndrome 1; NPHS1; nephrosis, congenital; nephrotic syndrome, type 1; nephrosis 1, congenital, Finnish type; congenital nephrotic syndrome - Finnish type; nephrotic syndrome - NPHS1 associated; congenital nephrotic syndrome, Finnish type; Finnish congenital nephrosis
Definition	Congenital nephrotic syndrome, Finnish type is characterized by protein loss beginning during fetal life.
Disease Hierarchy	DISADF8G: Familial nephrotic syndrome DISSPSC2: Nephrotic syndrome DIS8P7EH: Congenital nephrotic syndrome, Finnish type
Disease Identifiers	MONDO ID MONDO_0009732 MESH ID C535761 UMLS CUI C0403399 OMIM ID 256300 MedGen ID 98011 Orphanet ID 839 SNOMED CT ID 197601003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AFP	TTCFEA1	Strong	Altered Expression	[1]
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This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
APLP1	OTD176ZS	Strong	Biomarker	[2]
CRB2	OTG0L2CE	Strong	Genetic Variation	[1]
NPHS2	OTLCNUII	Strong	Genetic Variation	[3]
TREH	OTJE0NOY	Strong	Biomarker	[4]
NPHS1	OT21JD3P	Definitive	Autosomal recessive	[5]
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References

1	Expansion of phenotype and genotypic data in CRB2-related syndrome.Eur J Hum Genet. 2016 Oct;24(10):1436-44. doi: 10.1038/ejhg.2016.24. Epub 2016 Mar 23.
2	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.
3	Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum Mol Genet. 2002 Feb 15;11(4):379-88. doi: 10.1093/hmg/11.4.379.
4	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.
5	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.