rs372487178
×
Entrez Id:
26229
Gene Symbol:
B3GAT3
B3GAT3
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
0.800
GeneticVariation
UNIPROT
A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.
26086840
2015
rs372487178
×
Entrez Id:
26229
Gene Symbol:
B3GAT3
B3GAT3
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
0.800
GeneticVariation
UNIPROT
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.
25893793
2015
rs387906937
×
Entrez Id:
26229
Gene Symbol:
B3GAT3
B3GAT3
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
0.800
GeneticVariation
UNIPROT
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.
25893793
2015
rs387906937
×
Entrez Id:
26229
Gene Symbol:
B3GAT3
B3GAT3
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
0.800
GeneticVariation
UNIPROT
A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.
26086840
2015
rs372487178
×
Entrez Id:
26229
Gene Symbol:
B3GAT3
B3GAT3
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
0.800
GeneticVariation
UNIPROT
Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype.
24668659
2014
rs387906937
×
Entrez Id:
26229
Gene Symbol:
B3GAT3
B3GAT3
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
0.800
GeneticVariation
UNIPROT
Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype.
24668659
2014
rs372487178
×
Entrez Id:
26229
Gene Symbol:
B3GAT3
B3GAT3
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
0.800
GeneticVariation
UNIPROT
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.
21763480
2011
rs387906937
×
Entrez Id:
26229
Gene Symbol:
B3GAT3
B3GAT3
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
0.800
GeneticVariation
UNIPROT
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.
21763480
2011
rs387906937
×
Entrez Id:
26229
Gene Symbol:
B3GAT3
B3GAT3
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
T
0.800
CausalMutation
CLINVAR
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.
21763480
2011
rs372487178
×
Entrez Id:
26229
Gene Symbol:
B3GAT3
B3GAT3
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
T
0.800
CausalMutation
CLINVAR
rs12794886
×
Entrez Id:
26229
Gene Symbol:
B3GAT3
B3GAT3
Blood Protein Measurement
C
0.700
GeneticVariation
GWASCAT
Genomic atlas of the human plasma proteome.
29875488
2018
rs879255269
×
Entrez Id:
26229
Gene Symbol:
B3GAT3
B3GAT3
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
0.700
GeneticVariation
UNIPROT
A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.
26086840
2015
rs879255269
×
Entrez Id:
26229
Gene Symbol:
B3GAT3
B3GAT3
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
0.700
GeneticVariation
UNIPROT
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.
25893793
2015
rs879255269
×
Entrez Id:
26229
Gene Symbol:
B3GAT3
B3GAT3
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
0.700
GeneticVariation
UNIPROT
Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype.
24668659
2014
rs879255269
×
Entrez Id:
26229
Gene Symbol:
B3GAT3
B3GAT3
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
0.700
GeneticVariation
UNIPROT
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.
21763480
2011
rs535206047
×
Entrez Id:
26229
Gene Symbol:
B3GAT3
B3GAT3
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
A
0.700
CausalMutation
CLINVAR
rs879255269
×
Entrez Id:
26229
Gene Symbol:
B3GAT3
B3GAT3
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS
A
0.700
CausalMutation
CLINVAR
rs372487178
×
Entrez Id:
26229
Gene Symbol:
B3GAT3
B3GAT3
Glaucoma
0.010
GeneticVariation
BEFREE
We report on a patient with a novel homozygous B3GAT3 (c.667G>A , p.Gly223Ser ) mutation and a history of multiple fractures, blue sclerae, and glaucoma .
26086840
2015
rs387906937
×
Entrez Id:
26229
Gene Symbol:
B3GAT3
B3GAT3
Larsen-Like Syndrome
0.010
GeneticVariation
BEFREE
Since the phenotype of the Nias patients differs from the Larsen-like syndrome described for patients with mutation p.(Arg277Gln) , we suggest mutation B3GAT3:p.(Pro140Leu) to cause a different type of GAG linkeropathy showing no involvement of the heart.
25893793
2015