Autoinflammation, immune dysregulation, and eosinophilia

Preferred Label : Autoinflammation, immune dysregulation, and eosinophilia;

Symbol : AIIDE;

CISMeF acronym : AIIDE;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Atopic dermatitis, enteritis, colitis, and eosinophilia;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the janus kinase-1 gene (JAK1, 147795.0001);

Laboratory abnormalities : Increased ESR; Increased C-reactive protein;

Prefixed ID : #618999;

Details

Origin ID

618999;

UMLS CUI

C5436572;

Genes related to phenotype
- Janus kinase 1 [OMIM gene]
HPO term(s)
- Asthma [HPO term]
- Atopic dermatitis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Colonic eosinophilia [HPO term]
- Eosinophilia [HPO term]
- Eosinophilic liver infiltration [HPO term]
- Failure to thrive [HPO term]
- Food allergy [HPO term]
- Hepatic cysts [HPO term]
- Hepatosplenomegaly [HPO term]
- Hypothyroidism [HPO term]
- Membranous nephropathy [HPO term]
- Nephrotic syndrome [HPO term]
- Recurrent viral infections [HPO term]
- Short stature [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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