Hyper-ige syndrome 4b, autosomal recessive, with recurrent infections

Preferred Label : Hyper-ige syndrome 4b, autosomal recessive, with recurrent infections;

Symbol : HIES4B;

CISMeF acronym : HIES4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyper-ige recurrent infection syndrome 4b, autosomal recessive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the interleukin 6 signal transducer gene (IL6ST, 600694.0001);

Prefixed ID : #618523;

Details

Origin ID

618523;

UMLS CUI

C5193141;

Currated CISMeF NLP mapping
- hyper IgE recurrent infection syndrome 4 [DO Concept]
DO Cross reference
- hyper IgE recurrent infection syndrome 4 [DO Concept]
Genes related to phenotype
- Interleukin 6 cytokine family signal transducer [OMIM gene]
HPO term(s)
- Arthropathy [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Chronic diarrhea [HPO term]
- Clubbing [HPO term]
- Craniosynostosis [HPO term]
- Dental crowding [HPO term]
- Eczema [HPO term]
- Eosinophilia [HPO term]
- Food allergy [HPO term]
- Hip dislocation [HPO term]
- Increased circulating IgE level [HPO term]
- Joint contracture of the hand [HPO term]
- Keratitis [HPO term]
- Macroglossia [HPO term]
- Neurodevelopmental delay [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent respiratory infections [HPO term]
- Scaphocephaly [HPO term]
- Scoliosis [HPO term]
- Thoracolumbar scoliosis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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