Hyper-ige syndrome 5, autosomal recessive, with recurrent infections

Preferred Label : Hyper-ige syndrome 5, autosomal recessive, with recurrent infections;

Symbol : HIES5;

CISMeF acronym : HIES5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyper-ige recurrent infection syndrome 5, autosomal recessive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the interleukin 6 receptor gene (IL6R, 147880.0002);

Prefixed ID : #618944;

Details

Origin ID

618944;

UMLS CUI

C5394550;

Genes related to phenotype
- Interleukin 6 receptor [OMIM gene]
HPO term(s)
- Atopic dermatitis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cellulitis [HPO term]
- Cutaneous abscess [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased circulating total IgM [HPO term]
- Decreased proportion of class-switched memory B cells [HPO term]
- Inappropriate absence of fever [HPO term]
- Increased circulating IgE level [HPO term]
- Infantile onset [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent skin infections [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Reduced C-reactive protein level [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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