proteasome-associated autoinflammatory syndrome 1
Information
- Disease name
- proteasome-associated autoinflammatory syndrome 1
- Disease ID
- DOID:0050553
- Description
- "A proteasome-associated autoinflammatory syndrome that is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation and that has_material_basis_in homozygous mutation in the PSMB8 gene on chromosome 6p21 or a heterozygous mutation in the PSMB8 gene and a heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 gene on chromosome 1q21." [url:https\://pubmed.ncbi.nlm.nih.gov/21129723/, url:https\://pubmed.ncbi.nlm.nih.gov/21852578/, url:https\://pubmed.ncbi.nlm.nih.gov/21881205/, url:https\://www.nomidalliance.org/candle.php]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0060913
- Cross Reference ID (Disease Ontology)
- GARD:10988
- Cross Reference ID (Disease Ontology)
- GARD:3916
- Cross Reference ID (Disease Ontology)
- GARD:3917
- Cross Reference ID (Disease Ontology)
- MIM:256040
- Cross Reference ID (Disease Ontology)
- ORDO:324999
- Exact Synonym (Disease Ontology)
- CANDLE
- Exact Synonym (Disease Ontology)
- chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome
- Exact Synonym (Disease Ontology)
- JMP syndrome
- Exact Synonym (Disease Ontology)
- JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY
- Exact Synonym (Disease Ontology)
- Nakajo-Nishimura syndrome
- Exact Synonym (Disease Ontology)
- NKJO
- Exact Synonym (Disease Ontology)
- PRAAS1