Details of Disease | DrugMAP

General Information of Disease (ID: DISEZNOC)

Disease Name	Proteasome-associated autoinflammatory syndrome 1
Synonyms	autoinflammation, lipodystrophy, and dermatosis syndrome; proteasome-associated autoinflammatory syndrome 1, digenic; Nakajo-Nishimura syndrome; chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome; joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy; JMP syndrome; proteasome-associated autoinflammatory syndrome 1; PRAAS1; proteasome-associated autoinflammatory syndrome 1 and digenic forms
Disease Hierarchy	DISH7RJO: Proteosome-associated autoinflammatory syndrome DISEZNOC: Proteasome-associated autoinflammatory syndrome 1
Disease Identifiers	MONDO ID MONDO_0054698 UMLS CUI C4746851 OMIM ID 256040 MedGen ID 1648310 Orphanet ID 2615

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
PSMB8	TTEAD9J	moderate	Genetic Variation	[1]
PSMB8	TTEAD9J	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PSMB8	OTW5XGMF	Definitive	Autosomal recessive	[2]
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References

1	CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature-a rare case with a novel mutation.Eur J Pediatr. 2016 May;175(5):735-40. doi: 10.1007/s00431-015-2668-4. Epub 2015 Nov 14.
2	A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. J Clin Invest. 2011 Oct;121(10):4150-60. doi: 10.1172/JCI58414. Epub 2011 Sep 1.