Details of Disease

General Information of Disease (ID: DIS7W7TI)

Disease Name Nephrotic syndrome, type 13
Synonyms nephrotic syndrome, type 13; familial nephrotic syndrome caused by mutation in NUP205; nephrotic syndrome, type 13; NPHS13; NPHS13; NUP205 familial nephrotic syndrome
Definition Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene.
Disease Hierarchy
DISQ53RS: Familial idiopathic steroid-resistant nephrotic syndrome
DISSPSC2: Nephrotic syndrome
DIS7W7TI: Nephrotic syndrome, type 13
Disease Identifiers
MONDO ID
MONDO_0014818
UMLS CUI
C4225165
OMIM ID
616893
MedGen ID
900240

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
NUP205 OTJKHCY6 Strong Autosomal recessive [1]
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References

1 Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. Nat Genet. 2016 Apr;48(4):457-65. doi: 10.1038/ng.3512. Epub 2016 Feb 15.