Details of Disease

General Information of Disease (ID: DISDPK1Q)

Disease Name Nephrotic syndrome 16
Synonyms NPHS16; nephrotic syndrome 16; nephrotic syndrome, type 16
Disease Hierarchy
DISADF8G: Familial nephrotic syndrome
DISSPSC2: Nephrotic syndrome
DISDPK1Q: Nephrotic syndrome 16
Disease Identifiers
MONDO ID
MONDO_0033280
UMLS CUI
C4540453
OMIM ID
617783
MedGen ID
1622427

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
KANK2 OT3SZIWM Limited Unknown [1]
------------------------------------------------------------------------------------

References

1 KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. J Clin Invest. 2015 Jun;125(6):2375-84. doi: 10.1172/JCI79504. Epub 2015 May 11.