ACVRL1, activin A receptor like type 1, 94

N. diseases: 224; N. variants: 114
Disease: Congenital Abnormality ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.040 GeneticVariation group BEFREE Loss-of-function mutations in ALK1 cause a subtype of hereditary hemorrhagic telangiectasia-a rare disease characterized by vasculature malformations. 29449337 2018
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.040 Biomarker group BEFREE To normalize the altered hemodynamic forces in Acvrl1(+/-); Gja5(EGFP/+) mice, capillaries formed transient arteriovenous shunts that could develop into large malformations when exposed to environmental insults. 26821948 2016
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.040 Biomarker group BEFREE HHT1 is more frequently associated with congenital AVM malformations, such as CAVMs and PAVMs whereas HHT2 predominantly involves the liver. 17388964 2007
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.040 Biomarker group BEFREE Thus, vbg provides a model for the human autosomal dominant disorder, hereditary hemorrhagic telangiectasia type 2, in which disruption of ACVRL1 causes vessel malformations that may result in hemorrhage or stroke.Movies available on-line 12050147 2002