Details of Disease

General Information of Disease (ID: DIS8XZUX)

Disease Name Nephrotic syndrome, type 9
Synonyms NPHS9; nephrotic syndrome, type 9; COQ8B nephrotic syndrome; nephrotic syndrome caused by mutation in COQ8B
Definition Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene.
Disease Hierarchy
DISQ53RS: Familial idiopathic steroid-resistant nephrotic syndrome
DISSPSC2: Nephrotic syndrome
DIS8XZUX: Nephrotic syndrome, type 9
Disease Identifiers
MONDO ID
MONDO_0014257
UMLS CUI
C3809965
OMIM ID
615573
MedGen ID
816295

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
COQ8B OTBY50BD Definitive Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.