|
DOID:0050553 - proteasome-associated autoinflammatory syndrome 1
Disease Ontology Definition: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.
Synonyms: JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY, CANDLE, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome, JMP syndrome, Nakajo-Nishimura syndrome, NKJO, PRAAS1
Echinobase Genes
:
| MIM:256040 - autoinflammation, lipodystrophy, and dermatosis syndrome; aldd |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
digenic disease (is_a),
proteosome-associated autoinflammatory syndrome (is_a),
syndrome (is_a)