Details of Disease | DrugMAP

General Information of Disease (ID: DISH2UT1)

Disease Name	Autoinflammatory syndrome, familial, Behcet-like 1
Synonyms	autoinflammatory syndrome, familial, Behcet-like; AISBL; hereditary pediatric Behet-like disease; Behet-like disease due to HA20; autoinflammatory syndrome, familial, Behcet-like 1; hereditary paediatric Behet-like disease; Behet-like disease due to haploinsufficiency of A20
Disease Hierarchy	DISZ82VA: Autoinflammatory syndrome, familial, Behcet-like DISH2UT1: Autoinflammatory syndrome, familial, Behcet-like 1
Disease Identifiers	MONDO ID MONDO_0800045 UMLS CUI C4225218 OMIM ID 616744 MedGen ID 898541 Orphanet ID 476102

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TNFAIP3	TT5W0IO	Limited	Genetic Variation	[1]
TNFAIP3	TT5W0IO	Strong	Autosomal dominant	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IL36RN	OT5CO95A	Strong	Genetic Variation	[1]
TNFAIP3	OTVLI4DD	Strong	Autosomal dominant	[2]
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References

1	Coinheritance of generalized pustular psoriasis and familial Behet-like autoinflammatory syndrome with variants in IL36RN and TNFAIP3 in the heterozygous state.J Dermatol. 2019 Oct;46(10):907-910. doi: 10.1111/1346-8138.15034. Epub 2019 Jul 29.
2	Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. Nat Genet. 2016 Jan;48(1):67-73. doi: 10.1038/ng.3459. Epub 2015 Dec 7.