Osteomyelitis, sterile multifocal, with periostitis and pustulosis

Preferred Label : Osteomyelitis, sterile multifocal, with periostitis and pustulosis;

Symbol : OMPP;

CISMeF acronym : DIRA; OMPP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : DIRA; Interleukin 1 receptor antagonist deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the interleukin-1 receptor antagonist gene (IL1RN, 147679.0002);

Laboratory abnormalities : Marked elevation of erythrocyte sedimentation rate; Marked elevation of serum C-reactive protein level (CRP 123260);

Prefixed ID : #612852;

Details

Origin ID

612852;

UMLS CUI

C2748507;

Automatic exact mappings (from CISMeF team)
- 3'-O-methylpyridoxal 5'-phosphate [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency [ICD-11 More detail]
- DIRA [MedDRA LLT]
- Deficiency of the Interleukin-1 Receptor Antagonist [NCIt concept]
- Deficiency of the interleukin-1 receptor antagonist [MedDRA Preferred Term]
- IL1RN wt Allele [NCIt concept]
- Sterile multifocal osteomyelitis with periostitis and pustulosis [ORDO Disease]
- Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) [SNOMED CT concept]
- deficiency of interleukin-1 receptor antagonist [MeSH Supplementary Concept]
- deficiency of interleukin-1 receptor antagonist [MeSH concept]
- deficiency of the interleukin 1 receptor antagonist [Disease (Nov.)]
Genes related to phenotype
- Interleukin 1 receptor antagonist [OMIM gene]
HPO term(s)
- Abscess [HPO term]
- Arthralgia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad ribs [HPO term]
- Elevated circulating C-reactive protein concentration [HPO term]
- Elevated erythrocyte sedimentation rate [HPO term]
- Epidermal acanthosis [HPO term]
- Failure to thrive in infancy [HPO term]
- Fetal distress [HPO term]
- Flaring of rib cage [HPO term]
- Fused cervical vertebrae [HPO term]
- Hepatomegaly [HPO term]
- Hyperkeratosis [HPO term]
- Joint swelling [HPO term]
- Motor delay [HPO term]
- Neonatal onset [HPO term]
- Neutrophilia [HPO term]
- Osteolysis [HPO term]
- Osteomyelitis [HPO term]
- Osteopenia [HPO term]
- Periostitis [HPO term]
- Pulmonary fibrosis [HPO term]
- Pustule [HPO term]
- Respiratory distress [HPO term]
- Skin rash [HPO term]
- Splenomegaly [HPO term]
- Stomatitis [HPO term]
ORDO concept(s)
- Sterile multifocal osteomyelitis with periostitis and pustulosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- DIRA [MedDRA LLT]
- Deficiency of the Interleukin-1 Receptor Antagonist [NCIt concept]
- Deficiency of the interleukin-1 receptor antagonist [MedDRA Preferred Term]
- Sterile multifocal osteomyelitis with periostitis and pustulosis [ORDO Disease]
- Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) [SNOMED CT concept]
- deficiency of interleukin-1 receptor antagonist [MeSH Supplementary Concept]
- deficiency of interleukin-1 receptor antagonist [MeSH concept]
- deficiency of the interleukin 1 receptor antagonist [Disease (Nov.)]

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