ADA2, adenosine deaminase 2, 51816

N. diseases: 165; N. variants: 22
Disease: Relapsing Fever ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035021
Disease: Relapsing Fever
Relapsing Fever 		0.010 GeneticVariation disease BEFREE ADA2 deficiency (DADA2, OMIM 615688) is a monogenic autoinflammatory disorder caused by homozygous or compound heterozygous mutations in ADA2, with clinical features including recurrent fever, livedo racemosa, hepatosplenomegaly, and strokes as well as immune dysregulation. 31584751 2019