Details of Disease

General Information of Disease (ID: DISXG30I)

Disease Name Nephrotic syndrome, type 11
Synonyms
NPHS11; Nup107 familial nephrotic syndrome; NUP107 familial nephrotic syndrome; familial nephrotic syndrome caused by mutation in Nup107; nephrotic syndrome, type 11; nephrotic syndrome, type 11; NPHS11; familial nephrotic syndrome caused by mutation in NUP107
Definition Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene.
Disease Hierarchy
DISQ53RS: Familial idiopathic steroid-resistant nephrotic syndrome
DISSPSC2: Nephrotic syndrome
DISXG30I: Nephrotic syndrome, type 11
Disease Identifiers
MONDO ID
MONDO_0014752
UMLS CUI
C4225228
OMIM ID
616730
MedGen ID
898622

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
NUP107 OTG4RDYS Strong Autosomal recessive [1]
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References

1 Neonatal case history. Lamp. 1978 Aug;35(8):4-10.