Details of Disease

General Information of Disease (ID: DISZFSRV)

Disease Name Nephrotic syndrome, type 19
Synonyms NPHS19; NEPHROTIC SYNDROME, TYPE 19
Disease Hierarchy
DISADF8G: Familial nephrotic syndrome
DISZFSRV: Nephrotic syndrome, type 19
Disease Identifiers
MONDO ID
MONDO_0032582
UMLS CUI
C4748552
OMIM ID
618178
MedGen ID
1648305

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
NUP160 OTUKVV3I Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

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.