Details of Disease

General Information of Disease (ID: DISVAN3T)

Disease Name Nephrotic syndrome, type 12
Synonyms NPHS12; nephrotic syndrome, type 12; nephrotic syndrome, type 12; NPHS12; NUP93 familial nephrotic syndrome; familial nephrotic syndrome caused by mutation in NUP93
Definition Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene.
Disease Hierarchy
DISQ53RS: Familial idiopathic steroid-resistant nephrotic syndrome
DISSPSC2: Nephrotic syndrome
DISVAN3T: Nephrotic syndrome, type 12
Disease Identifiers
MONDO ID
MONDO_0014817
UMLS CUI
C4225166
OMIM ID
616892
MedGen ID
904365

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
NUP93 OT4J2VAL Strong Autosomal recessive [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.