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infantile-onset periodic fever-panniculitis-dermatosis syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Uniprot Description An autosomal recessive autoinflammatory disorder characterized by neonatal-onset of fever, neutrophilic dermatitis, panniculitis, painful joints, failure to thrive. Patients do not exhibit overt primary immunodeficiency.
Disease Ontology Description An immune system disease that is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in autosomal recessive inheritance of homozygous loss-of-function mutations in the OTULIN gene encoding a deubiquitinase with linear linkage specificity on chromosome 5p15.
Mondo Term and Equivalent IDs
MONDO:0014912:  infantile-onset periodic fever-panniculitis-dermatosis syndrome
DOID:0080163: otulipenia
GARD:0013198: 
Orphanet:500062: 
SCTID:765435009: 
UMLS:C4310614: