Hyper-ige syndrome 4a, autosomal dominant, with recurrent infections

Preferred Label : Hyper-ige syndrome 4a, autosomal dominant, with recurrent infections;

Symbol : HIES4A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyper-ige recurrent infection syndrome 4a, autosomal dominant;

Prefixed ID : #619752;

Details

Origin ID

619752;

UMLS CUI

C5676920;

Genes related to phenotype
- Interleukin 6 cytokine family signal transducer [OMIM gene]
HPO term(s)
- Asthma [HPO term]
- Atopic dermatitis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bronchiectasis [HPO term]
- Bronchomalacia [HPO term]
- Childhood onset [HPO term]
- Cutaneous abscess [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased circulating total IgM [HPO term]
- Delayed umbilical cord separation [HPO term]
- Food allergy [HPO term]
- High palate [HPO term]
- Increased circulating IgE level [HPO term]
- Increased susceptibility to fractures [HPO term]
- Infantile onset [HPO term]
- Joint hypermobility [HPO term]
- Juvenile onset [HPO term]
- Lymphopenia [HPO term]
- Neutropenia [HPO term]
- Persistence of primary teeth [HPO term]
- Pulmonary pneumatocele [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent skin infections [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Reduced natural killer cell count [HPO term]
- Scoliosis [HPO term]
- Supernumerary tooth [HPO term]
- Talipes equinovarus [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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