Details of Disease

General Information of Disease (ID: DIST9D7E)

Disease Name Proteasome-associated autoinflammatory syndrome 3
Synonyms PRAAS3; proteasome-associated autoinflammatory syndrome 3, digenic; proteasome-associated autoinflammatory syndrome 3 and digenic forms; proteasome-associated autoinflammatory syndrome 3
Disease Hierarchy
DISH7RJO: Proteosome-associated autoinflammatory syndrome
DIST9D7E: Proteasome-associated autoinflammatory syndrome 3
Disease Identifiers
MONDO ID
MONDO_0054699
UMLS CUI
C4747850
OMIM ID
617591
MedGen ID
1648456

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PSMB9 TTOUSTQ Limited Unknown [1]
PSMB9 TTOUSTQ Definitive Genetic Variation [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PSMB4 OTOJ9OHA Limited Autosomal recessive [1]
PSMB9 OTFV57T8 Limited Unknown [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.
2 Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. J Clin Invest. 2015 Nov 2;125(11):4196-211. doi: 10.1172/JCI81260. Epub 2015 Oct 20.