Proteasome-Associated Autoinflammatory Syndrome 1

Preferred Label : Proteasome-Associated Autoinflammatory Syndrome 1;

NCIt synonyms : PRAAS1; Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome;

NCIt related terms : Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature (CANDLE) Syndrome; CANDLE;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the PSMB8 gene, encoding proteasome subunit beta type-8. It is characterized by early onset annular erythematous plaques, partial lipodystrophy, and recurrent fever.;

NCI Metathesaurus CUI : CL965939;

Details

Origin ID

C176619;

UMLS CUI

C4746851;

Automatic exact mappings (from CISMeF team)
- Nakajo-Nishimura syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- CANDLE syndrome [MedDRA Preferred Term]
- Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome [MedDRA LLT]
- Proteasome-associated autoinflammatory syndrome 1 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CANDLE syndrome [MedDRA Preferred Term]
- Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome [MedDRA LLT]
- Proteasome-associated autoinflammatory syndrome 1 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- PSMB8 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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