Details of Disease | DrugMAP

General Information of Disease (ID: DISBM7C5)

Disease Name	Hyper-IgE recurrent infection syndrome 5, autosomal recessive
Synonyms	hyper-IgE recurrent infection syndrome 5, autosomal recessive; HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5
Disease Hierarchy	DIS6W0DT: Hyper-IgE syndrome DISBM7C5: Hyper-IgE recurrent infection syndrome 5, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0030069 UMLS CUI C5394550 OMIM ID 618944 MedGen ID 1716052

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IL6R	OTCQL07Z	Strong	Autosomal recessive	[1]
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References

1	Variants in the interleukin 6 receptor gene are associated with obesity in Pima Indians. Mol Genet Metab. 2003 Nov;80(3):338-43. doi: 10.1016/j.ymgme.2003.07.003.