ZFIN Human Disease: proteasome-associated autoinflammatory syndrome 1

OBO ID: DOID:0050553

Term Name:	proteasome-associated autoinflammatory syndrome 1		Search Ontology:
Synonyms:	CANDLE chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome JMP syndrome JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY Nakajo-Nishimura syndrome NKJO PRAAS1
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. (4)
References:	GARD:10988 GARD:3916 GARD:3917 OMIM:256040 ORDO:324999
Ontology:	Human Disease ( DOID:0050553 )

Relationships

is a type of:	autosomal recessive disease digenic disease proteosome-associated autoinflammatory syndrome autosomal recessive disease digenic disease proteosome-associated autoinflammatory syndrome Show first 5 Terms

OTHER proteasome-associated autoinflammatory syndrome 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PSMB8	psmb8a	Proteasome-associated autoinflammatory syndrome 1 and digenic forms	256040

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None