proteosome-associated autoinflammatory syndrome

Findings

No curated finding names proteosome-associated autoinflammatory syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, hp/releases/2026-09-01.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• autosomal recessive disease
• hereditary disorder of connective tissue
• immune system disorder
• type 1 interferonopathy of childhood

Narrower terms (6)

• proteasome-associated autoinflammatory syndrome 1
• proteasome-associated autoinflammatory syndrome 2
• proteasome-associated autoinflammatory syndrome 3
• proteasome-associated autoinflammatory syndrome 4
• proteasome-associated autoinflammatory syndrome 5
• proteasome-associated autoinflammatory syndrome 6

Resolves to: proteosome-associated autoinflammatory syndrome

Also called

ALDDALDD syndromeautoinflammation-lipodystrophy-dermatosis syndromeautoinflammation, lipodystrophy, and dermatosis syndromeCANDLE syndromechronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperaturechronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndromeJMP syndromeJoint contractures - muscle atrophy - microcytic anaemia - panniculitis-induced lipodystrophyJoint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophyJoint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndromeNakajo Nishimura syndromeNakajo syndromeNakajo-Nishimura syndrome