Proteasome-Associated Autoinflammatory Syndrome 1
Disease ID: disease_node_15599
Connections displayed (default: 10).
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| Dbxref | GARD:10988, GARD:3916, GARD:3917, MIM:256040, ORDO:324999 |
|---|---|
| Subclassof | DOID_0050737, DOID_0080578, DOID_0060913 |
| Data Source | DOID |
| Synonyms | CANDLE, JMP syndrome, JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY, NKJO, Nakajo-Nishimura syndrome, PRAAS1, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome |
| Doid Label | proteasome-associated autoinflammatory syndrome 1 |
| Doid 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 or compound heterozygous mutation in the PSMB8 gene on chromosome 6p21. Digenic forms of PRAAS1 can be caused by heterozygous mutation in the PSMB8 gene and heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 on chromosome 1q21. |
| Has Material Basis In | GENO_0000148, GENO_0000930 |
| Disease Node Id | disease_node_15599 |
| Doid Id | DOID_0050553 |
| Label | Proteasome-Associated Autoinflammatory Syndrome 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Digenic Disease(ID:disease_node_13627) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Proteosome-Associated Autoinflammatory Syndrome(ID:disease_node_15594) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)