ACVR1, activin A receptor type 1, 90

N. diseases: 144; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation 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
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE All familial and sporadic cases with a classic clinical presentation of FOP carry a gain-of-function mutation (R206H; c.617 G > A) in ACVR1, a cell surface receptor that mediates bone morphogenetic protein (BMP) signaling. 31107558 2019
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE The human disease fibrodysplasia ossificans progressiva (FOP) is a rare and highly disabling disorder of extensive heterotopic bone growth that is caused by a point mutation (R206H) in the activation domain of Alk2, a BMP (bone morphogenic protein) type 1 receptor. 31376533 2019
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE This model could be useful to elucidate molecular mechanisms leading to heterotopic ossification in FOP such as in the presence of specific ACVR1-R206H activators as Activin A. 28705683 2018
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE We found that the Acvr1 R206H mutation caused increased BMP signaling in posttraumatic FOP lesions and early divergence from the normal skeletal muscle repair program with elevated and prolonged immune cell infiltration. 28986986 2018
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE Most patients with fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder of heterotopic ossification, have the same causative mutation in ACVR1, R206H. 29097342 2018
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE These cells express the common FOP mutation, ACVR1 (R206H). 29170109 2018
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE The large majority of cases of the autosomal dominant human disease fibrodysplasia ossificans progressiva (FOP) are caused by gain-of-function Arg206His mutations in the BMP type I receptor ACVR1 (ALK2). 29307777 2018
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE Targeted expression of the disease-causing type I bone morphogenetic protein (BMP) receptor, ACVR1(R206H), to FAPs recapitulates the full spectrum of HO observed in FOP patients. 29396429 2018
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE The Fibrodysplasia Ossificans Progressiva (FOP) mutation p.R206H in ACVR1 confers an altered ligand response. 27713089 2017
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE Activating mutations of ALK2 containing the R206 to H mutation, are present in 95% in the rare autosomal genetic disease fibrodysplasia ossificans progressiva (FOP), which leads to the development of ectopic bone formation in muscle. 28847510 2017
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE Here we report that the drug additionally prevents spontaneous HO, using a novel conditional-on knock-in mouse line carrying the human ACVR1(R206H) mutation for classic FOP. 26896819 2016
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE Our results suggest that the ACVR1 R206H mutation may not directly increase the formation of mature chondrogenic or osteogenic cells by FOP iECs. 27530160 2016
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE Fibrodysplasia ossificans progressiva (FOP) patients carry a missense mutation in ACVR1 [617G > A (R206H)] that leads to hyperactivation of BMP-SMAD signaling. 27794120 2016
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE She underwent whole-exome sequencing (WES) as part of the FORGE study to identify the gene for infantile myofibromatosis; however a de novo dominant mutation in ACVR1 (NM_001105.4:c.617G>A) revised the diagnosis to FOP. 25899773 2015
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE The most common recurrent allele c.617 G>A; p.R206H is also the most common in Indian patients with FOP. 26058333 2015
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE We generated human induced pluripotent stem cells (hiPSCs) from FOP patients with the ALK2 R206H mutation. 26626181 2015
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE Fibrodysplasia ossificans progressiva is characterized by extensive ossification within muscle tissues, and its molecular pathogenesis is responsible for the constitutively activating mutation (R206H) of the bone morphogenetic protein type 1 receptor, activin-like kinase 2 (ALK2). 24798338 2014
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE However, we found that the engineered ACVR1(Q207D-c.a.) is significantly more active than the classic FOP mutation ACVR1(R206H) when overexpressed in chicken limbs and in differentiation assays of chondrogenesis, osteogenesis and myogenesis. 24852373 2014
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE Overall, our ES cells are useful for studying the molecular mechanisms of heterotopic ossification in FOP in vitro and for developing novel inhibitors of chondrogenesis induced by mutant ALK2(R206H) associated with FOP. 25446088 2014
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE A recurrent activating mutation (c.617G→A; R206H) of activin receptor-like kinase 2 (ACVR1/ALK2), a BMP type I receptor, has been shown as the main cause of FOP. 23861958 2013
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE Ninety-seven percent of FOP patients (70/72 cases) had the canonical c.617G>A (p.R206H) mutation, while 3% of FOP patients (2/72 cases) had variant mutations in ACVR1/ALK2. 24051199 2013
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE FOP is caused by a recurrent heterozygous activating mutation (c.617G>A; R206H) of Activin receptor type IA/Activin-like kinase-2 (ACVR1/ALK2), a bone morphogenetic protein (BMP) type I receptor that occurs in all classically affected individuals. 22011642 2012
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE The dual function of ALK2 is of particular interest given the heterozygous nature of FOP, as the normal interplay between such disparate behaviors could be shifted by the presence of ALK2(R206H) receptors. 22174087 2012
dbSNP: rs121912678
rs121912678
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease:
Fibrodysplasia Ossificans Progressiva
0.900 GeneticVariation BEFREE An Acvr1 R206H knock-in mouse has fibrodysplasia ossificans progressiva. 22508565 2012