Details of Disease

General Information of Disease (ID: DIS1D0GZ)

Disease Name Nephrotic syndrome, type 17
Synonyms NEPHROTIC SYNDROME, TYPE 17; NPHS17
Disease Hierarchy
DISADF8G: Familial nephrotic syndrome
DIS1D0GZ: Nephrotic syndrome, type 17
Disease Identifiers
MONDO ID
MONDO_0032580
UMLS CUI
C4748545
OMIM ID
618176
MedGen ID
1648294

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NUP85 OTB5ZHC8 Strong Autosomal recessive [1]
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References

1 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.