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GLA and Fabry disease are reported together in 8 articles.
Gene
GLA
- HGNC
- HGNC:4296
10articles
10mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Fabry disease
19articles
19mentions
6co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
8 records shown · first 60Uncovering the gene variants in a global cohort of patients with unexplained increased left ventricular wall thickness using next-generation sequencing.
PMID 41998504 | PMCID PMC13231718 | DOI 10.1186/s12872-026-05834-5 · BMC cardiovascular disorders · 2026 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | GLA | “In patients with a positive test (HCM or HCM phenocopies), the most prevalent HCM-related variants were MYBPC3 and MYH7 (36.4% and 34.4% of all positive samples, respectively), whereas TTR (7.1%) and GLA (4.0%) were the most common phenocopy variants.” | 0.98 | hgnc_dict_v1 |
| phenotype | Fabry disease | “BACKGROUND: Genetic analysis using massive parallel sequencing is crucial for the accurate and early diagnosis of hereditary hypertrophic cardiomyopathies and their phenocopies, especially transthyretin cardiac amyloidosis (ATTR-CA) and Fabry disease (FD).” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | MYBPC3 | “In patients with a positive test (HCM or HCM phenocopies), the most prevalent HCM-related variants were MYBPC3 and MYH7 (36.4% and 34.4% of all positive samples, respectively), whereas TTR (7.1%) and GLA (4.0%) were the most common phenocopy variants.” | 0.98 | hgnc_dict_v1 |
| gene | MYH7 | “In patients with a positive test (HCM or HCM phenocopies), the most prevalent HCM-related variants were MYBPC3 and MYH7 (36.4% and 34.4% of all positive samples, respectively), whereas TTR (7.1%) and GLA (4.0%) were the most common phenocopy variants.” | 0.98 | hgnc_dict_v1 |
Signal Peptide Engineering and Codon Optimization to Enhance α-Gal A Activity for rAAV Gene Therapy of Fabry Disease.
PMID 41802717 | PMCID PMC12971190 | DOI 10.1002/jimd.70168 · Journal of inherited metabolic disease · 2026 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | GLA | “Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α-galactosidase A (α-Gal A) activity and pathological accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (Lyso-Gb3) in various organs.” | 0.98 | hgnc_dict_v1 |
| phenotype | Fabry disease | “Signal Peptide Engineering and Codon Optimization to Enhance α-Gal A Activity for rAAV Gene Therapy of Fabry Disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | lysosomal storage disease | “Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α-galactosidase A (α-Gal A) activity and pathological accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (Lyso-Gb3) in various organs.” | 0.93 | phenotype_alias_lexicon_v2 |
Phenotypic Evolution in Fabry Disease: Our Experience in Indian Cohort.
PMID 40123633 | PMCID PMC11928697 | DOI 10.1007/s12291-023-01176-7 · Indian journal of clinical biochemistry : IJCB · 2025 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | GLA | “Consistent with this, we had a very early onset neonatal Fabry with 0% specific enzyme activity harbouring c.613C > G (p.Pro205Ala) mutation in the GLA gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | Fabry disease | “Phenotypic Evolution in Fabry Disease: Our Experience in Indian Cohort.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Pro205Ala | “Consistent with this, we had a very early onset neonatal Fabry with 0% specific enzyme activity harbouring c.613C > G (p.Pro205Ala) mutation in the GLA gene.” | 0.95 | hgvs_regex_v1 |
Multinational experience with next-generation sequencing: opportunity to identify transthyretin cardiac amyloidosis and Fabry disease.
PMID 38716318 | PMCID PMC11070997 | DOI 10.21037/cdt-23-191 · Cardiovascular diagnosis and therapy · 2024 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | GLA | “The HCM phenocopy variants included variants in the TTR (n=7, 1.3%) and GLA (n=2, 0.4%) genes.” | 0.98 | hgnc_dict_v1 |
| phenotype | Fabry disease | “Multinational experience with next-generation sequencing: opportunity to identify transthyretin cardiac amyloidosis and Fabry disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | MYH7 | “Variants in MYH7 (n=60, 11.2%) and MYBPC3 (n=41, 7.7%) were the most common HCM variants.” | 0.98 | hgnc_dict_v1 |
| gene | MYBPC3 | “Variants in MYH7 (n=60, 11.2%) and MYBPC3 (n=41, 7.7%) were the most common HCM variants.” | 0.98 | hgnc_dict_v1 |
The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.
PMID 33835733 | PMCID PMC8172211 | DOI 10.1002/mgg3.1666 · Molecular genetics & genomic medicine · 2021 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | GLA | “Fabry disease, an X-linked lysosomal storage disorder caused by pathogenic variants in GLA, can lead to end-stage renal disease, cardiac arrhythmias, and stroke.” | 0.98 | hgnc_dict_v1 |
| phenotype | Fabry disease | “The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | stroke | “Fabry disease, an X-linked lysosomal storage disorder caused by pathogenic variants in GLA, can lead to end-stage renal disease, cardiac arrhythmias, and stroke.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | cardiomyopathy | “Newborn screening and screening of at-risk populations, (e.g., patients with hypertrophic cardiomyopathy or undiagnosed nephropathies) can identify individuals with Fabry disease.” | 0.98 | phenotype_alias_lexicon_v2 |
Screening for Fabry disease among 619 hemodialysis patients in Saudi Arabia.
PMID 32789421 | PMCID PMC7502976 | DOI 10.15537/smj.2020.8.25184 · Saudi medical journal · 2020 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | GLA | “When the second DBS sample was also positive (enzyme activity less than 40%), a Sanger sequencing of the GLA gene was performed.” | 0.98 | hgnc_dict_v1 |
| phenotype | Fabry disease | “Screening for Fabry disease among 619 hemodialysis patients in Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | renal failure | “All adult patients (greater than 18 years old) attending the dialysis unit who have end-stage renal disease (ESRD) and on hemodialysis were included.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Screening for Fabry disease among 619 hemodialysis patients in Saudi Arabia. OBJECTIVES: To determine the prevalence of Fabry disease (FD) among Saudi patients on hemodialysis. METHODS: This prospective study was conducted in 3 major hospitals in the Kingdom of Saudi Arabia (KSA).” | 0.95 | saudi_context_rules_v1 |
The clinical utility of total concentration of urinary globotriaosylsphingosine plus its analogues in the diagnosis of Fabry disease.
PMID 31654629 | DOI 10.1016/j.cca.2019.10.005 · Clinica chimica acta; international journal of clinical chemistry · 2020 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | GLA | “BACKGROUND: Fabry disease (FD) is a genetic disorder caused by defective α-galactosidase-A enzyme due to mutations in the GLA gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | Fabry disease | “The clinical utility of total concentration of urinary globotriaosylsphingosine plus its analogues in the diagnosis of Fabry disease.” | 0.98 | phenotype_alias_lexicon_v2 |
A novel mutation and in vivo confocal microscopic findings in Fabry disease.
PMID 28337063 | PMCID PMC5352937 | DOI 10.1016/j.sjopt.2016.12.005 · Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society · 2017 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | GLA | “Herein, we demonstrate the in vivo confocal microscopic findings of a genetically proven Fabry disease patient with a novel hemizygous R112L mutation in GLA gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | Fabry disease | “A novel mutation and in vivo confocal microscopic findings in Fabry disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | lysosomal storage disease | “Fabry disease is a hereditary, X-linked lysosomal storage disease due to a deficiency of the alpha galactosidase A enzyme.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | congenital cataract | “Increase in conjunctival vascular tortuosity, and cataract may also be seen.” | 0.93 | phenotype_alias_lexicon_v2 |