Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
0.100 Biomarker disease BEFREE Congenital heart block (CHB) may develop in fetuses of Ro/SSA autoantibody-positive women. 30808622 2019
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
0.100 Biomarker disease BEFREE Measurement of anti-Ro52 antibody levels may be helpful in extracting a risk group of delivering CHB infants in the anti-Ro/SSA antibody positive pregnancy. 28880700 2018
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
0.100 Biomarker disease BEFREE We analyzed occurrence of postnatal DCM among children with high-degree congenital heart block (CHB) and mothers with anti-SSA and/or anti-SSB antibodies. 28843719 2017
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
0.100 Biomarker disease BEFREE High expression of SIGLEC1 in pregnant women with autoantibodies against Ro/SS-A indicates an enhanced risk for CHB development, and these women may benefit especially from IFN-α directed therapy, for example with hydroxychloroquine. 28501799 2017
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
0.100 Biomarker disease BEFREE The signature lesion of SSA/Ro autoantibody-associated congenital heart block (CHB) is fibrosis and a macrophage infiltrate, supporting an experimental focus on cues influencing the fibroblast component. 28626076 2017
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
0.100 Biomarker disease BEFREE Congenital heart block (CHB) is an autoantibody mediated disorder presumably caused by placental transmission of maternal autoantibodies to Ro/SSA 52 kd, p200, Ro/SSA 60 kd, La/SSB ribonucleoproteins. 28204891 2017
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
0.100 Biomarker disease BEFREE Only 2% of mothers positive for anti-SSA/Ro (Ro) antibodies have children with congenital heart block (CHB). 25994441 2015
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
0.100 GeneticVariation disease BEFREE HLA-DRB1*04 and HLA-Cw*05 were identified as novel foetal HLA allele variants that confer susceptibility to CHB in response to Ro/SSA autoantibody exposure, whilst DRB1*13 and Cw*06 emerged as protective alleles. 24354957 2014
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
0.100 Biomarker disease BEFREE In conclusion, we observed that CHB can develop in a genetically unrelated child exposed in utero to anti-SSA/Ro antibodies. 20499382 2010
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
0.100 Biomarker disease BEFREE We recently reported that maternal sera containing antibodies against SSA/Ro and SSB/La ribonucleoproteins (positive IgG) inhibited L-type Ca current in isolated cardiac myocytes and induced sinus bradycardia in a murine model of CHB. 11257091 2001
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
0.100 Biomarker disease BEFREE Although a strong clinical association exists between congenital heart block (CHB) and an immune response to SSA/Ro and SSB/La proteins, a causative role of these antibodies in the pathogenesis is just emerging. 9667364 1998
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
0.100 GeneticVariation disease BEFREE Conversely, maternal HLA-DQB1*0602 carried on HLA-DR2 haplotypes was associated with CHB but not cutaneous NLE; (ii) HLA-DQA1 alleles with glutamine at position 34 of the first domain, which have reportedly been associated with the autoimmune responses to Ro/SSA antigens in other ethnic groups, were increased in the mothers of infants with cutaneous involvement; and (iii) there was no particular class II HLA profile that distinguished the disease manifestations in infants. 9182815 1997
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
0.100 AlteredExpression disease BEFREE We recently described an alternatively spliced 52-kd SS-A/Ro messenger RNA (mRNA) derived from the skipping of exon 4 which encodes a smaller protein, 52beta (MW 45 kd), recognized by CHB maternal antisera. 9125247 1997