Details of Disease | DrugMAP

General Information of Disease (ID: DISJ79IN)

Disease Name	Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Disease Hierarchy	DISAEGPH: Immune system disorder DISCMCGL: Autoinflammatory syndrome DISYGNOB: Disorder of glycogen metabolism DIS8I9FS: Hereditary disorder of connective tissue DISJ79IN: Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Disease Identifiers	MONDO ID MONDO_0017992 UMLS CUI C5394674 MedGen ID 1720168 Orphanet ID 329173 SNOMED CT ID 829973009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RBCK1	TTIKUVC	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RBCK1	OTOOXC7B	Supportive	Autosomal recessive	[1]
RNF31	OT4BZONL	Supportive	Autosomal recessive	[2]
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References

1	Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. Nat Immunol. 2012 Dec;13(12):1178-86. doi: 10.1038/ni.2457. Epub 2012 Oct 28.
2	Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia. J Exp Med. 2015 Jun 1;212(6):939-51. doi: 10.1084/jem.20141130. Epub 2015 May 25.