ACVRL1, activin A receptor like type 1, 94

N. diseases: 224; N. variants: 114
Disease: Vascular anomaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		0.040 Biomarker phenotype BEFREE These combined data suggest that bi-allelic loss of ENG or ACVRL1 may be a required event in the development of telangiectasia, and that rather than haploinsufficiency, VMs in HHT are caused by a Knudsonian two-hit mechanism. 31630786 2019
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		0.040 Biomarker phenotype BEFREE Hereditary Hemorrhagic Telangiectasia type 2 (HHT2) is an inherited genetic disorder characterized by vascular malformations and hemorrhage. 30571259 2018
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		0.040 GeneticVariation phenotype BEFREE ACVRL1 c.314-35A>G was also associated with pulmonary AVM and liver VM among ENG mutation heterozygotes. 25847705 2015
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		0.040 GeneticVariation phenotype BEFREE The results of this study link ACVRL1 (HHT Type 2 gene) to the formation of the clinically sporadic variants of vascular malformations of the CNS most commonly seen in patients with HHT, that is, AVMs and DAVFs. 16776339 2006