HTRA1, HtrA serine peptidase 1, 5654

N. diseases: 164; N. variants: 45
Disease: Mental deterioration ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.110 CausalMutation phenotype CLINVAR Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL. 27164673 2016
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.110 CausalMutation phenotype CLINVAR A novel HTRA1 exon 2 mutation causes loss of protease activity in a Pakistani CARASIL patient. 25957642 2015
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.110 CausalMutation phenotype CLINVAR Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease. 26063658 2015
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.110 CausalMutation phenotype CLINVAR A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population. 25772074 2015
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.110 CausalMutation phenotype CLINVAR Loss of HtrA1-induced attenuation of TGF-β signaling in fibroblasts might not be the main mechanism of CARASIL pathogenesis. 25770224 2015
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.110 Biomarker phenotype BEFREE In rare, recessively inherited CARASIL the clinical picture and white matter changes are similar as in CADASIL, but cognitive decline begins earlier. 25323668 2014
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.110 CausalMutation phenotype CLINVAR Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease. 19387015 2009
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.110 Biomarker phenotype HPO