ACVR1, activin A receptor type 1, 90

N. diseases: 144; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.080 GeneticVariation group BEFREE We analyzed baseline whole body (minus skull) computed tomographic (CT) scans of 113 individuals with classic clinical features of FOP and the ACVR1 (R206H) mutation who were enrolled in a non-interventional natural history study ((NCT02322255)) for skeletal malformations, atypical morphology, intra-articular synovial osteochondromatosis, developmental arthropathy, and associated degenerative joint phenotypes. 31655222 2020
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.080 GeneticVariation group BEFREE The delayed diagnosis of an FOP variant in this patient could have been avoided if the significance of severe digital malformations had been recognized, especially in the setting of progressive heterotopic ossification. 31012264 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.080 Biomarker group BEFREE <i>ACVR1</i> is linked to different pathologies, including cardiac malformations and alterations in the reproductive system. 31683698 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.080 Biomarker group BEFREE Limb specific Acvr1-knockout during embryogenesis in mice exhibits great toe malformation as seen in Fibrodysplasia Ossificans Progressiva (FOP). 30854720 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.080 Biomarker group BEFREE Genetic testing exonerated ACVR1 as culpable for the patient's toe malformation. 28473268 2017
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.080 GeneticVariation group BEFREE Mutations in the ACVR1 gene are associated with Fibrodysplasia Ossificans Progressiva (FOP), a rare and extremely disabling disorder characterized by congenital malformation of the great toes and progressive heterotopic endochondral ossification in muscles and other non-skeletal tissues. 24047559 2013
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.080 GeneticVariation group BEFREE Fibrodysplasia Ossificans Progressiva (FOP) is a rare, autosomal dominant condition, classically characterised by heterotopic ossification beginning in childhood and congenital great toe malformations; occurring in response to a c.617 G > A ACVR1 mutation in the functionally important glycine/serine-rich domain of exon 6. 21044902 2011
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.080 GeneticVariation group BEFREE All patients with classic clinical features of FOP (great toe malformations and progressive heterotopic ossification) have previously been found to carry the same heterozygous mutation (c.617G>A; p.R206H) in the glycine and serine residue (GS) activation domain of activin A type I receptor/activin-like kinase 2 (ACVR1/ALK2), a bone morphogenetic protein (BMP) type I receptor. 19085907 2009