Details of Disease | DrugMAP

General Information of Disease (ID: DIS7FHSU)

Disease Name	Autoinflammation with episodic fever and lymphadenopathy
Synonyms	AIEFL; Cleavage-Resistant Ripk1-Induced Autoinflammatory Syndrome; Cria Syndrome; AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; autoinflammation with episodic fever and lymphadenopathy
Disease Hierarchy	DISYKSRF: Genetic disease DIS7FHSU: Autoinflammation with episodic fever and lymphadenopathy
Disease Identifiers	MONDO ID MONDO_0030018 UMLS CUI C5394286 OMIM ID 618852 MedGen ID 1719052

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
RIPK1	TTAIQSN	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RIPK1	OTC41R1E	Strong	Autosomal dominant	[1]
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References

1	A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1. Nature. 2020 Jan;577(7788):109-114. doi: 10.1038/s41586-019-1830-y. Epub 2019 Dec 11.