Proteosome-associated autoinflammatory syndrome(NKJO; ALDD)

MedGen UID:: 376827
•Concept ID:: C1850568
•: Disease or Syndrome

Synonym:	Proteasome-associated autoinflammatory syndrome
SNOMED CT:	Autoinflammation, lipodystrophy and dermatosis syndrome (702449004); Japanese autoinflammatory syndrome with lipodystrophy (702449004); Nakajo-Nishimura syndrome (702449004); Nakajo syndrome (702449004); Proteasome-associated autoinflammatory syndrome (702449004)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0009726
OMIM®:	256040
OMIM® Phenotypic series:	PS256040
Orphanet:	ORPHA324977

Definition

A rare, autosomal recessive autoinflammatory disorder characterized by early-onset erythematous popular/nodular skin eruptions, recurrent fever, possible joint contractures, lipodystrophy, erythematous inflammatory skin changes, joint and muscle involvement (joint contractures, arthralgia, muscle weakness), and hepatosplenomegaly. [from ORDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVProteosome-associated autoinflammatory syndrome

Autoinflammatory syndrome with skin involvement
- Proteosome-associated autoinflammatory syndrome

MedGen

National Center for Biotechnology Information

Send to:

Proteosome-associated autoinflammatory syndrome(NKJO; ALDD)

Definition

Term Hierarchy

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

Recent activity