Details of Disease

General Information of Disease (ID: DISH7RJO)

Disease Name Proteosome-associated autoinflammatory syndrome
Synonyms
amyotrophy fat tissue anomaly; amyotrophy-fat tissue anomaly syndrome; nodular erythema digital changes; ALDD syndrome; Joint contractures - muscle atrophy - microcytic anaemia - panniculitis-induced lipodystrophy; autoinflammation, lipodystrophy, and dermatosis syndrome; Joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy; Nakajo-Nishimura syndrome; Nakajo syndrome; chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome; NNS; ALDD; PRAAS; proteasome disability syndrome; chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome; proteasome-associated autoinflammatory syndrome; Nakajo Nishimura syndrome; Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome; secondary hypertrophic osteoperiostosis with pernio; JMP syndrome; Joint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophy; joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy; autoinflammation-lipodystrophy-dermatosis syndrome; chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature; CANDLE syndrome
Disease Hierarchy
DISCPWH9: Autosomal recessive disease
DISAEGPH: Immune system disorder
DISKP5TO: Type 1 interferonopathy of childhood
DIS8I9FS: Hereditary disorder of connective tissue
DISH7RJO: Proteosome-associated autoinflammatory syndrome
Disease Identifiers
MONDO ID
MONDO_0009726
MESH ID
C538334
UMLS CUI
C1850568
MedGen ID
376827
Orphanet ID
324977
SNOMED CT ID
702449004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PSMB8 TTEAD9J Supportive Autosomal recessive [1]
PSMB9 TTOUSTQ moderate Biomarker [2]
PSMB8 TTEAD9J Strong Genetic Variation [3]
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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 Supportive Autosomal recessive [1]
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References

1 Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. Proc Natl Acad Sci U S A. 2011 Sep 6;108(36):14914-9. doi: 10.1073/pnas.1106015108. Epub 2011 Aug 18.
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.
3 Pluripotent Stem Cell Model of Nakajo-Nishimura Syndrome Untangles Proinflammatory Pathways Mediated by Oxidative Stress.Stem Cell Reports. 2018 Jun 5;10(6):1835-1850. doi: 10.1016/j.stemcr.2018.04.004. Epub 2018 May 3.