|
Hypertrophic Cardiomyopathy
|
0.200 |
Biomarker
|
disease |
BEFREE |
To perform GLA gene screening in a group of patients with echocardiographic diagnosis of hypertrophic cardiomyopathy (HCM).
|
31291414 |
2019 |
|
Hypertrophic Cardiomyopathy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In 585 patients previously diagnosed with hypertrophic cardiomyopathy, we identified 2 unrelated patients (0.34%), both with the GLA mutation encoding P.N215S, the most common mutation causing later-onset Fabry disease phenotype.
|
28943383 |
2018 |
|
Hypertrophic Cardiomyopathy
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease.
|
29018006 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease.
|
28430823 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
We measured plasma α-galactosidase A activity in 177 men with a diagnosis of hypertrophic cardiomyopathy (HCM) (maximum LV wall thickness ≥15mm).
|
27554049 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The screening of Icelandic patients clinically diagnosed with hypertrophic cardiomyopathy resulted in identification of 8 individuals from 2 families with X-linked Fabry disease (FD) caused by <i>GLA</i>(α-galactosidase A gene) mutations encoding p.D322E (family A) or p.I232T (family B).
|
28798024 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease.
|
28082092 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We studied whether cardio-specific α-galactosidase A gene variants are misinterpreted as hypertrophic cardiomyopathy because of the lack of extracardiac organ involvement.
|
29018006 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Genetic epidemiological study doesn't support GLA IVS4+919G>A variant is a significant mutation in Fabry disease.
|
28377241 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy.
|
27554049 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This is the confusable case of HOCM with Fabry disease with the GLA E66Q mutation.
|
27160240 |
2016 |
|
Hypertrophic Cardiomyopathy
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.
|
27931613 |
2016 |
|
Hypertrophic Cardiomyopathy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Cardiology (hypertrophic cardiomyopathy), neurology (cryptogenic stroke), and nephrology (end-stage renal failure) screening studies suggest the prevalence of GLA variants is 0.62%, with diagnosis confirmation in 0.12%.
|
27585509 |
2016 |
|
Hypertrophic Cardiomyopathy
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer.
|
27595546 |
2016 |
|
Hypertrophic Cardiomyopathy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Family 1 (p.A143T) presented with hypertrophic cardiomyopathy (HCM), absent classical FD signs, high residual alpha-galactosidase A activity (AGAL-A) and normal plasma globotriaosylsphingosine.
|
25040344 |
2015 |
|
Hypertrophic Cardiomyopathy
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
[Genetic and clinical study of three Chinese pedigrees with Fabry disease].
|
23568732 |
2013 |
|
Hypertrophic Cardiomyopathy
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation.
|
23109060 |
2013 |
|
Hypertrophic Cardiomyopathy
|
0.200 |
Biomarker
|
disease |
BEFREE |
This case highlights diagnostic dilemmas that can be provoked by VUS in general, and specifically raises a question whether GLA sequencing should be included in first-line diagnostic testing for female children with isolated hypertrophic cardiomyopathy.
|
22336178 |
2012 |
|
Hypertrophic Cardiomyopathy
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations.
|
22437327 |
2012 |
|
Hypertrophic Cardiomyopathy
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T).
|
21972175 |
2012 |
|
Hypertrophic Cardiomyopathy
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.
|
21598360 |
2011 |
|
Hypertrophic Cardiomyopathy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Fabry disease is an X-linked lysosomal storage disorder caused by mutations of the α-galactosidase A gene (GLA), and the disease is a relatively prevalent cause of left ventricular hypertrophy mimicking idiopathic hypertrophic cardiomyopathy.
|
22008442 |
2011 |
|
Hypertrophic Cardiomyopathy
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A).
|
20821055 |
2010 |
|
Hypertrophic Cardiomyopathy
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Fabry disease, an X-linked storage disorder caused by defective lysosomal enzyme alpha-galactosidase A activity, may resemble sarcomere-gene-associated hypertrophic cardiomyopathy (HCM).
|
20498269 |
2010 |