Details of Disease | DrugMAP

General Information of Disease (ID: DISERFYV)

Disease Name	Autoinflammation with arthritis and dyskeratosis
Synonyms	AUTOINFLAMMATION with arthritis and dyskeratosis; AIADK
Disease Hierarchy	DISYKSRF: Genetic disease DISERFYV: Autoinflammation with arthritis and dyskeratosis
Disease Identifiers	MONDO ID MONDO_0060457 UMLS CUI C4479278 OMIM ID 617388 MedGen ID 1380109

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
NLRP1	TTQX29T	moderate	Biomarker	[1]
NLRP1	TTQX29T	Strong	Autosomal recessive	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NLRP1	OT4BNNOS	Strong	Autosomal recessive	[2]
------------------------------------------------------------------------------------

References

1	Association of NLRP1 and NLRP3 Polymorphisms with Psoriasis Vulgaris Risk in the Chinese Han Population.Biomed Res Int. 2018 Apr 3;2018:4714836. doi: 10.1155/2018/4714836. eCollection 2018.
2	Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation. Cell. 2016 Sep 22;167(1):187-202.e17. doi: 10.1016/j.cell.2016.09.001.