Details of Disease

General Information of Disease (ID: DISNBL1M)

Disease Name Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Synonyms
AUTOINFLAMMATION, panniculitis, and dermatosis syndrome; otulipenia; AIPDS; ORAS; autoinflammation, panniculitis and dermatosis syndrome; Autoinflammation, panniculitis, and dermatosis syndrome; otulin-related autoinflammatory syndrome; otulin deficiency
Disease Hierarchy
DISAEGPH: Immune system disorder
DISS9RWQ: Hereditary periodic fever syndrome
DISNBL1M: Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Disease Identifiers
MONDO ID
MONDO_0014912
UMLS CUI
C4310614
OMIM ID
617099
MedGen ID
934581
Orphanet ID
500062
SNOMED CT ID
765435009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
OTULIN OTEE02J4 Definitive Autosomal recessive [1]
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References

1 OTULIN deficiency causes auto-inflammatory syndrome. Cell Res. 2016 Nov;26(11):1176-1177. doi: 10.1038/cr.2016.113. Epub 2016 Sep 30.