Autoinflammation, panniculitis, and dermatosis syndrome

Preferred Label : Autoinflammation, panniculitis, and dermatosis syndrome;

Symbol : AIPDS;

CISMeF acronym : AIPDS; ORAS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : OTULIPENIA; Otulin-related autoinflammatory syndrome; ORAS;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the OTU deubiquitinase with linear linkage specificity gene (OTULIN, 615712.0001);

Laboratory abnormalities : Leukocytosis; Neutrophilia; Increased serum C-reactive protein (CRP);

Prefixed ID : #617099;

Details

Origin ID

617099;

UMLS CUI

C4310614;

Automatic exact mappings (from CISMeF team)
- OTULIN wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Autoinflammation, Panniculitis, and Dermatosis Syndrome [NCIt concept]
- Infantile-onset periodic fever-panniculitis-dermatosis syndrome [ORDO Disease]
- OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) [SNOMED CT concept]
- otulipenia [DO Concept]
DO Cross reference
- otulipenia [DO Concept]
Genes related to phenotype
- Otu deubiquitinase with linear linkage specificity [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Arthralgia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Chronic diarrhea [HPO term]
- Diarrhea [HPO term]
- Elevated circulating C-reactive protein concentration [HPO term]
- Failure to thrive in infancy [HPO term]
- Increased circulating IgA level [HPO term]
- Increased circulating IgM level [HPO term]
- Increased proportion of CD4-positive T cells [HPO term]
- Infantile onset [HPO term]
- Joint swelling [HPO term]
- Leukocytosis [HPO term]
- Lipodystrophy [HPO term]
- Lymphadenopathy [HPO term]
- Myalgia [HPO term]
- Neutrophilia [HPO term]
- Panniculitis [HPO term]
- Recurrent fever [HPO term]
- Skin rash [HPO term]
- Vasculitis [HPO term]
ORDO concept(s)
- Infantile-onset periodic fever-panniculitis-dermatosis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autoinflammation, Panniculitis, and Dermatosis Syndrome [NCIt concept]
- Infantile-onset periodic fever-panniculitis-dermatosis syndrome [ORDO Disease]
- OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) [SNOMED CT concept]
- otulipenia [DO Concept]

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