ADA2, adenosine deaminase 2, 51816

N. diseases: 165; N. variants: 22
Disease: Polyarteritis Nodosa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0031036
Disease: Polyarteritis Nodosa
Polyarteritis Nodosa 		0.400 Biomarker disease BEFREE There was no significant difference in ADA2 activities between PAN-like and DBA-like patients. 31043544 2020
CUI: C0031036
Disease: Polyarteritis Nodosa
Polyarteritis Nodosa 		0.400 Biomarker disease BEFREE Diagnosis and management of ADA2 deficient polyarteritis nodosa. 29624883 2019
CUI: C0031036
Disease: Polyarteritis Nodosa
Polyarteritis Nodosa 		0.400 AlteredExpression disease BEFREE These are stimulators of interferon genes (STING)-associated vasculopathy of infancy (SAVI), which is a monogenic defect associated with excessive activity in interferon alpha and deficiency of adenosine deaminase 2, which is characterized by a polyarteritis nodosa-like picture. 30552566 2019
CUI: C0031036
Disease: Polyarteritis Nodosa
Polyarteritis Nodosa 		0.400 Biomarker disease BEFREE Adenosine deaminase-2 (ADA2) deficiency (DADA2) is associated with early onset polyarteritis nodosa and vasculopathy. 29271561 2018
CUI: C0031036
Disease: Polyarteritis Nodosa
Polyarteritis Nodosa 		0.400 Biomarker disease GENOMICS_ENGLAND Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia. 29564582 2018
CUI: C0031036
Disease: Polyarteritis Nodosa
Polyarteritis Nodosa 		0.400 GeneticVariation disease BEFREE Mutations in the CECR1 gene are associated with a hereditary form of polyarteritis nodosa, called ADA2-deficiency. 29391272 2018
CUI: C0031036
Disease: Polyarteritis Nodosa
Polyarteritis Nodosa 		0.400 Biomarker disease BEFREE Deficiency of adenosine deaminase 2 can present with a polyarteritis nodosa (PAN)-like picture and should be included in the differential of all pediatric cases of PAN with a family history or in cases with early stroke, or in cases resistant to conventional therapy. 28582318 2017
CUI: C0031036
Disease: Polyarteritis Nodosa
Polyarteritis Nodosa 		0.400 AlteredExpression disease BEFREE Genetic screening and measurement of plasma levels of adenosine deaminase 2 should be considered for patients with uncommon systemic polyarteritis nodosa or early-onset cutaneous polyarteritis nodosa. 28547523 2017
CUI: C0031036
Disease: Polyarteritis Nodosa
Polyarteritis Nodosa 		0.400 Biomarker disease BEFREE Additionally, although 'classic' PAN is not an inherited disease, mutations in specific genes, such as ADA2 (also known as CECR1), can result in a necrotizing vasculopathy similar to PAN. 28490787 2017
CUI: C0031036
Disease: Polyarteritis Nodosa
Polyarteritis Nodosa 		0.400 AlteredExpression disease BEFREE Subjects with ADA2 deficiency (with or without symptoms) also had lower ADA2 enzyme activity compared to healthy pediatric controls (P < 0.0001) and patients with sporadic (nonfamilial) childhood polyarteritis nodosa (PAN) without CECR1 mutation (P = 0.0108). 27059682 2016
CUI: C0031036
Disease: Polyarteritis Nodosa
Polyarteritis Nodosa 		0.400 Biomarker disease GENOMICS_ENGLAND Early-onset stroke and vasculopathy associated with mutations in ADA2. 24552284 2014
CUI: C0031036
Disease: Polyarteritis Nodosa
Polyarteritis Nodosa 		0.400 GeneticVariation disease BEFREE Adenosine deaminase 2 (ADA2) deficiency due to CECR1 mutations is a recently defined disorder that involves systemic inflammation and vasculopathy often associated with polyarteritis nodosa. 24737293 2014
CUI: C0031036
Disease: Polyarteritis Nodosa
Polyarteritis Nodosa 		0.400 GeneticVariation disease BEFREE Recessive loss-of-function mutations of ADA2, a growth factor that is the major extracellular adenosine deaminase, can cause polyarteritis nodosa vasculopathy with highly varied clinical expression. 24552285 2014
CUI: C0031036
Disease: Polyarteritis Nodosa
Polyarteritis Nodosa 		0.400 Biomarker disease GENOMICS_ENGLAND Sneddon's syndrome. 3471198 1986