familial hypercholesterolemia
HP:0003124 · 143890 · SaudiVarKB evidence summary derived from retained literature mentions.
155Phenotype mentions
100Publications
50Associated gene records
50Associated variant records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| LDLR | HGNC:6547 | 40 | 40 |
| PCSK9 | HGNC:20001 | 25 | 25 |
| APOB | HGNC:603 | 10 | 10 |
| ABCG5 | HGNC:13886 | 3 | 3 |
| PAH | HGNC:8582 | 2 | 2 |
| APOE | HGNC:613 | 2 | 2 |
| SCN5A | HGNC:10593 | 2 | 2 |
| ACE | HGNC:2707 | 2 | 2 |
| CYP3A5 | HGNC:2638 | 2 | 2 |
| LDLRAP1 | HGNC:18640 | 2 | 2 |
| PON1 | HGNC:9204 | 2 | 2 |
| CYP7A1 | HGNC:2651 | 2 | 2 |
| CD4 | HGNC:1678 | 1 | 1 |
| ENPP1 | HGNC:3356 | 1 | 1 |
| CD40 | HGNC:11919 | 1 | 1 |
| TBX4 | HGNC:11603 | 1 | 1 |
| SCN10A | HGNC:10582 | 1 | 1 |
| TG | HGNC:11764 | 1 | 1 |
| KCNQ1 | HGNC:6294 | 1 | 1 |
| G6PD | HGNC:4057 | 1 | 1 |
| STAT3 | HGNC:11364 | 1 | 1 |
| PMP22 | HGNC:9118 | 1 | 1 |
| AGL | HGNC:321 | 1 | 1 |
| PLCG2 | HGNC:9066 | 1 | 1 |
| ABCB1 | HGNC:40 | 1 | 1 |
| CYP3A4 | HGNC:2637 | 1 | 1 |
| BRAF | HGNC:1097 | 1 | 1 |
| GATA2 | HGNC:4171 | 1 | 1 |
| VDR | HGNC:12679 | 1 | 1 |
| ASPM | HGNC:19048 | 1 | 1 |
| ANGPTL3 | HGNC:491 | 1 | 1 |
| JAK2 | HGNC:6192 | 1 | 1 |
| ATP8B1 | HGNC:3706 | 1 | 1 |
| ABCG8 | HGNC:13887 | 1 | 1 |
| AKAP9 | HGNC:379 | 1 | 1 |
| EGFR | HGNC:3236 | 1 | 1 |
| CSNK1A1 | HGNC:2451 | 1 | 1 |
| JAK3 | HGNC:6193 | 1 | 1 |
| RALA | HGNC:9839 | 1 | 1 |
| ZEB2 | HGNC:14881 | 1 | 1 |
| EGF | HGNC:3229 | 1 | 1 |
| ABCA1 | HGNC:29 | 1 | 1 |
| FAS | HGNC:11920 | 1 | 1 |
| MPL | HGNC:7217 | 1 | 1 |
| GRM7 | HGNC:4599 | 1 | 1 |
| CD44 | HGNC:1681 | 1 | 1 |
| PRDM13 | HGNC:13998 | 1 | 1 |
| JAK1 | HGNC:6190 | 1 | 1 |
| TDP1 | HGNC:18884 | 1 | 1 |
| CHD7 | HGNC:20626 | 1 | 1 |
Associated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| p.W577C | p.W577C | 3 | 3 |
| c.1474G>A | c.1474G>A | 2 | 2 |
| p.D492N | p.D492N | 2 | 2 |
| c.1429G>A | c.1429G>A | 2 | 2 |
| p.D477N | p.D477N | 2 | 2 |
| c.2027delG | c.2027delG | 2 | 2 |
| c.2027del | c.2027del | 1 | 1 |
| p.C231* | p.C231* | 1 | 1 |
| p.R744* | p.R744* | 1 | 1 |
| c.335_336insCGAG | c.335_336insCGAG | 1 | 1 |
| p.F114Rfs | p.F114Rfs | 1 | 1 |
| c.622G>A | c.622G>A | 1 | 1 |
| p.E208K | p.E208K | 1 | 1 |
| c.1421C>G | c.1421C>G | 1 | 1 |
| p.S474* | p.S474* | 1 | 1 |
| p.His493Arg | p.His493Arg | 1 | 1 |
| rs151009667 | rs151009667 | 1 | 1 |
| p.Y419D | p.Y419D | 1 | 1 |
| p.S202Tfs | p.S202Tfs | 1 | 1 |
| rs429358 | rs429358 | 1 | 1 |
| rs7412 | rs7412 | 1 | 1 |
| p.Arg987Ter | p.Arg987Ter | 1 | 1 |
| p.Asp36Tyr | p.Asp36Tyr | 1 | 1 |
| p.Gly140Ser | p.Gly140Ser | 1 | 1 |
| p.Arg284Ter | p.Arg284Ter | 1 | 1 |
| p.Pro106Leu | p.Pro106Leu | 1 | 1 |
| Q192R | Q192R | 1 | 1 |
| p.Trp577Arg | p.Trp577Arg | 1 | 1 |
| p.Leu479Gln | p.Leu479Gln | 1 | 1 |
| p.Glu668* | p.Glu668* | 1 | 1 |
| c.1731G>T | c.1731G>T | 1 | 1 |
| c.1783C>T | c.1783C>T | 1 | 1 |
| p.R595W | p.R595W | 1 | 1 |
| c.9835A>G | c.9835A>G | 1 | 1 |
| p.S3279G | p.S3279G | 1 | 1 |
| G894T | G894T | 1 | 1 |
| p.G676Afs | p.G676Afs | 1 | 1 |
| c.2026delG | c.2026delG | 1 | 1 |
| 1171G>A | 1171G>A | 1 | 1 |
| 1167G>A | 1167G>A | 1 | 1 |
| c.1706-1715del | c.1706-1715del | 1 | 1 |
| c.2416dup | c.2416dup | 1 | 1 |
| p.Gln35Ter | p.Gln35Ter | 1 | 1 |
| c.2416dupG | c.2416dupG | 1 | 1 |
| rs2278426 | rs2278426 | 1 | 1 |
| c.666_670dup | c.666_670dup | 1 | 1 |
| p.Ser3279Gly | p.Ser3279Gly | 1 | 1 |
| R496W | R496W | 1 | 1 |
| rs629301 | rs629301 | 1 | 1 |
| rs1367117 | rs1367117 | 1 | 1 |
Associated population records
Co-mentioned in the same publicationsSupporting publications
100 records- 2026Optimizing cardiovascular health: a systematic review and meta-analysis of olezarsen dosages in high-risk hypertriglyceridemic patients.Naunyn-Schmiedeberg's archives of pharmacologyPubMed ↗
- 2026Whole-exome sequencing in obstructive coronary artery disease identifies rare and novel variants in cardiac arrhythmia and pulmonary arterial hypertension-associated genes.Biomolecules & biomedicinePubMed ↗
- 2026Severe left main and ostial right coronary obstruction with supra aortic valve atherosclerotic stenosis in a 16 Year old patient with familial hypercholesterolemia: A case report.Journal of cardiovascular computed tomographyPubMed ↗
- 2026Traditional cardiovascular risk factors and their association with atherosclerotic cardiovascular disease in homozygous familial hypercholesterolemia: A cross-sectional analysis from the HICC registry.AtherosclerosisPubMed ↗
- 2026Global survey of genetic testing methods for familial hypercholesterolemia. A study and recommendations from the EAS FHSC registry.European journal of preventive cardiologyPubMed ↗
- 2026Homozygous familial hypercholesterolaemia: insights from the Global HICC Registry.European heart journalPubMed ↗
- 2026Investigating the phytotherapeutic efficacy of Acacia nilotica pod ethanolic extract in modulating lipid profile, oxidative stress and inflammation in diet-induced hypercholesterolemia: in vivo and in silico insights.Frontiers in pharmacologyPubMed ↗
- 2026Correction: Untargeted metabolomics reveals distinct biomarkers and metabolic alterations in familial and non-genetic hypercholesterolemia in Saudi patients.Frontiers in medicinePubMed ↗
- 2026Meta-Analysis of Oral PCSK9 Inhibitors for Hypercholesterolemia in Adults: A Systematic Review and GRADE Assessment.Cardiology in reviewPubMed ↗
- 2026Advancing Lipid Management: Saudi Heart Association Position Statement on PCSK9-targeted Therapies in the Primary and Secondary Prevention of Cardiovascular Disease.Journal of the Saudi Heart AssociationPubMed ↗
- 2026Premature atherosclerotic cardiovascular disease in the MENA region: economic impact, barriers to care, and policy recommendations for an escalating crisis.Current opinion in lipidologyPubMed ↗
- 2025Overweight, obesity, and cardiovascular disease in heterozygous familial hypercholesterolaemia: the EAS FH Studies Collaboration registry.European heart journalPubMed ↗
- 2025Unraveling molecular interconnections and identifying potential therapeutic targets of significance in obesity-cancer link.Journal of the National Cancer CenterPubMed ↗
- 2025Familial hypercholesterolemia in pregnancy.Current opinion in lipidologyPubMed ↗
- 2025Homozygous familial hypercholesterolemia evaluation and survival single center study in Saudi Arabia: The HESSA registry.AtherosclerosisPubMed ↗
- 2025Homozygous Familial Hypercholesterolemia Is a Life-Limiting Condition: Medical Life-Trajectories in the Post-2010 Era.Journal of the American College of CardiologyPubMed ↗
- 2025Long noncoding RNAs in familial hypercholesterolemia: biomarkers, therapeutics, and AI in precision medicine.Lipids in health and diseasePubMed ↗
- 2025The Prevalence and Predictors of Sickle Cell Anemia in the Saudi Arabia General Population: Findings from a Cross-Sectional Study.Healthcare (Basel, Switzerland)PubMed ↗
- 2025Prevalence of very high cholesterol levels in asymptomatic military recruits: A single center study.Saudi medical journalPubMed ↗
- 2025Unlocking the potential: advancements and applications of gene therapy in severe disorders.Annals of medicinePubMed ↗
- 2025Homozygous familial hypercholesterolemia in a high-consanguinity population: Insights from a Saudi cohort.Journal of clinical lipidologyPubMed ↗
- 2025Gastric mucosal differentially expressed genes after bariatric surgery: Effects on sterol-related pathways.The Journal of steroid biochemistry and molecular biologyPubMed ↗
- 2025Assessment of Primary Health Care Physicians' Awareness, Knowledge, and Practice of Familial Hypercholesterolemia in Jazan, Saudi Arabia.CureusPubMed ↗
- 2025Multimodal Therapy Achieves Secondary Prevention LDL-C Targets in LDL-Receptor Null Homozygous Familial Hypercholesterolemia.JACC. Case reportsPubMed ↗
- 2025Pathogenic LDLR Variants (c.103 C>T and c.2416dup) in ligand-binding and cytosolic domains in Saudi familial hypercholesterolemia: Molecular characterization and computational insights.Computational and structural biotechnology journalPubMed ↗
- 2025Flaxseed in Diabetes Management: Nutritional and Therapeutic Insights.Current nutrition reportsPubMed ↗
- 2025Untargeted metabolomics reveals distinct biomarkers and metabolic alterations in familial and non-genetic hypercholesterolemia in Saudi patients.Frontiers in medicinePubMed ↗
- 2025Medical and Financial Consequences of Using PCSK9 Inhibitors for Managing Hypercholesterolemia in Saudi Arabia: A Historical Cohort Study.Healthcare (Basel, Switzerland)PubMed ↗
- 2025Whole exome sequencing identifies concurrent LDLR and ABCG8 mutations in a Saudi family with familial hypercholesterolemia and Sitosterolaemia.Frontiers in geneticsPubMed ↗
- 2025Fair pricing, fair access; a systematic review of cost-effectiveness of new hyperlipidemia injectable medication in developing countries.Cost effectiveness and resource allocation : C/EPubMed ↗
- 2024Modern approaches to the management of homozygous familial hypercholesterolemia in the Middle East and North Africa.Journal of clinical lipidologyPubMed ↗
- 2024The Effect of PCSK9 Inhibitors on LDL-C Target Achievement in Patients with Homozygous Familial Hypercholesterolemia: A Retrospective Cohort Analysis.Advances in therapyPubMed ↗
- 2024Knowledge, attitude, and practice of physicians towards familial hypercholesterolaemia in north regions of Saudi Arabia.JPMA. The Journal of the Pakistan Medical AssociationPubMed ↗
- 2024Berberine attenuates inflammation and oxidative stress and modulates lymphocyte E-NTPDase in acute hyperlipidemia.Drug development researchPubMed ↗
- 2024Correction to: The Effect of PCSK9 Inhibitors on LDL-C Target Achievement in Patients with Homozygous Familial Hypercholesterolemia: A Retrospective Cohort Analysis.Advances in therapyPubMed ↗
- 2024Addressing comprehensive complexities a striking familial hypercholesterolemia case study.The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of CardiologyPubMed ↗
- 2024Association between genetic variants of GRM7 (rs1396409 and rs9883258) and treatment outcomes in Schizophrenic Egyptian patients.Nucleosides, nucleotides & nucleic acidsPubMed ↗
- 2024Lomitapide: A Medication Use Evaluation and a Formulary Perspective.Global journal on quality and safety in healthcarePubMed ↗
- 2024Potentials of artificial intelligence in familial hypercholesterolemia: Advances in screening, diagnosis, and risk stratification for early intervention and treatment.International journal of cardiologyPubMed ↗
- 2024Sucralose Influences the Productive Performance, Carcass Traits, Blood Components, and Gut Microflora Using 16S rRNA Sequencing of Growing APRI-Line Rabbits.Animals : an open access journal from MDPIPubMed ↗
- 2024Sitosterolemia With Two Heterozygous Variants Including a Novel Mutation c.1800T>A in the ABCG5 Gene: A Case Report of a Rare Condition in a Young Saudi Girl.CureusPubMed ↗
- 2024Use and effectiveness of PCSK-9 inhibitors in heart diseases: A review.MedicinePubMed ↗
- 2024Lomitapide for the treatment of paediatric patients with homozygous familial hypercholesterolaemia (APH-19): results from the efficacy phase of an open-label, multicentre, phase 3 study.The lancet. Diabetes & endocrinologyPubMed ↗
- 2024The effectiveness of liver transplantation in reducing lipid levels in Saudi children with homozygous familial hypercholesterolemia.Frontiers in cardiovascular medicinePubMed ↗
- 2024Prognostic Value of Normal Triglyceride Levels among Patients with Target Low-density Lipoproteins Presenting with First Acute Coronary Syndrome.Heart views : the official journal of the Gulf Heart AssociationPubMed ↗
- 2023Identification and functional characterization of two rare LDLR stop gain variants (p.C231* and p.R744*) in Saudi familial hypercholesterolemia patients.Panminerva medicaPubMed ↗
- 2023Association of CELSR2, APOB100, ABCG5/8, LDLR, and APOE polymorphisms and their genetic risks with lipids among the Thai subjects.Saudi journal of biological sciencesPubMed ↗
- 2023Management and clinical outcomes of patients with homozygous familial hypercholesteremia in Saudi Arabia.Monaldi archives for chest disease = Archivio Monaldi per le malattie del toracePubMed ↗
- 2023Apigenin ameliorates hypercholesterolemic-induced kidney injury via modulating renal KIM-1, Fn1, and Nrf2 signaling pathways.European review for medical and pharmacological sciencesPubMed ↗
- 2023Various Expressions of PIK3C2A and TXNIP Genes and Their Potential Role as Independent Risk Factors for Chronic Stable Angina and Acute Coronary Syndrome.BiomoleculesPubMed ↗
- 2023Exploring the Sociodemographic and Behavioral Status of People Living with Hypercholesterolemia in Saudi Arabia: A Nation-Wide Cross-Sectional Study.Risk management and healthcare policyPubMed ↗
- 2023Protein structural insights into a rare PCSK9 gain-of-function variant (R496W) causing familial hypercholesterolemia in a Saudi family: whole exome sequencing and computational analysis.Frontiers in physiologyPubMed ↗
- 2023Novel LDLR Variant in Familial Hypercholesterolemia: NGS-Based Identification, In Silico Characterization, and Pharmacogenetic Insights.Life (Basel, Switzerland)PubMed ↗
- 2023Physicians' perceptions and beliefs on the current dyslipidemia management practices within Saudi Arabia.Saudi pharmaceutical journal : SPJ : the official publication of the Saudi Pharmaceutical SocietyPubMed ↗
- 2023Real-World Insights into Evolocumab Use in Patients with Hyperlipidemia Across Five Countries: Analysis from the ZERBINI Study.Cardiology and therapyPubMed ↗
- 2023Genetic association between vitamin D receptor gene and Saudi patients confirmed with Familial Hypercholesterolemia.Acta biochimica PolonicaPubMed ↗
- 2022Cost-Effectiveness Analysis of Evolocumab for the Treatment of Dyslipidemia in the Kingdom of Saudi Arabia.PharmacoEconomics - openPubMed ↗
- 2022Consensus clinical recommendations for the management of plasma lipid disorders in the Middle East: 2021 update.AtherosclerosisPubMed ↗
- 2022Identification of Novel and Known LDLR Variants Triggering Severe Familial Hypercholesterolemia in Saudi Families.Current vascular pharmacologyPubMed ↗
- 2022Is Liver Transplant Curative in Homozygous Familial Hypercholesterolemia? A Review of Nine Global Cases.Advances in therapyPubMed ↗
- 2022Gaps in knowledge and practice for familial hypercholesterolemia among physicians caring for children in Saudi Arabia.European review for medical and pharmacological sciencesPubMed ↗
- 2022Edible Bird's Nest Regulates Hepatic Cholesterol Metabolism through Transcriptional Regulation of Cholesterol Related Genes.Evidence-based complementary and alternative medicine : eCAMPubMed ↗
- 2022Association of cytochromes P450 3A4*22 and 3A5*3 genotypes and polymorphism with response to simvastatin in hypercholesterolemia patients.PloS onePubMed ↗
- 2022Identifying significant genes and functionally enriched pathways in familial hypercholesterolemia using integrated gene co-expression network analysis.Saudi journal of biological sciencesPubMed ↗
- 2022Ataxia with oculomotor apraxia type 1 associated with mutation in the APTX gene: A case study and literature review.Experimental and therapeutic medicinePubMed ↗
- 2022Lycopene Modulates Oxidative Stress and Inflammation in Hypercholesterolemic Rats.Pharmaceuticals (Basel, Switzerland)PubMed ↗
- 2022New Trends and Therapies for Familial Hypercholesterolemia.Journal of clinical medicinePubMed ↗
- 2022Exome Sequencing Revealed a Novel Splice Site Variant in the CRB2 Gene Underlying Nephrotic Syndrome.Medicina (Kaunas, Lithuania)PubMed ↗
- 2021Dietary Recommendations for Familial Hypercholesterolaemia: an Evidence-Free Zone.BMJ evidence-based medicinePubMed ↗
- 2021Coronary artery disease in patients with human immunodeficiency virus infection.Journal of nuclear cardiology : official publication of the American Society of Nuclear CardiologyPubMed ↗
- 2021LDL cholesterol promotes the proliferation of prostate and pancreatic cancer cells by activating the STAT3 pathway.Journal of cellular physiologyPubMed ↗
- 2021Late outcomes in survivors of childhood acute myeloid leukemia: a report from the St. Jude Lifetime Cohort Study.LeukemiaPubMed ↗
- 2021Homozygous Familial Hypercholesterolemia (HoFH) in Saudi Arabia and Two Cases of Lomitapide Use in a Real-World Setting.Advances in therapyPubMed ↗
- 2021Familial Hypercholesterolemia in the Arabian Gulf Region: Clinical results of the Gulf FH Registry.PloS onePubMed ↗
- 2021Saudi Familial Hypercholesterolemia Patients With Rare LDLR Stop Gain Variant Showed Variable Clinical Phenotype and Resistance to Multiple Drug Regimen.Frontiers in medicinePubMed ↗
- 2021Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC).Lancet (London, England)PubMed ↗
- 2020The Gulf Familial Hypercholesterolemia Registry (Gulf FH): Design, Rationale and Preliminary Results.Current vascular pharmacologyPubMed ↗
- 2020Molecular insights into the coding region mutations of low-density lipoprotein receptor adaptor protein 1 (LDLRAP1) linked to familial hypercholesterolemia.The journal of gene medicinePubMed ↗
- 2020Practice of lipoprotein apheresis and short-term efficacy in children with homozygous familial hypercholesterolemia: Data from an international registry.AtherosclerosisPubMed ↗
- 2020Breast arterial calcification on mammography does not predict coronary artery disease by invasive coronary angiography.Annals of Saudi medicinePubMed ↗
- 2020Association of ANGPTL8 (Betatrophin) Gene Variants with Components of Metabolic Syndrome in Arab Adults.Scientific reportsPubMed ↗
- 2020Insights into pharmacological mechanisms of polydatin in targeting risk factors-mediated atherosclerosis.Life sciencesPubMed ↗
- 2020Assessment of medical intern's knowledge, awareness and practice of familial hypercholesterolemia at academic institutes in Jeddah, Saudi Arabia.Lipids in health and diseasePubMed ↗
- 2020Lomitapide for treatment of homozygous familial hypercholesterolemia: The Québec experience.AtherosclerosisPubMed ↗
- 2019Screening of common genetic variants in the APOB gene related to familial hypercholesterolemia in a Saudi population: A case-control study.MedicinePubMed ↗
- 2019Recently reported familial hypercholesterolemia-related mutations from cases in the Middle East and North Africa region.Current opinion in lipidologyPubMed ↗
- 2019Impact of Age on the Efficacy and Safety of Alirocumab in Patients with Heterozygous Familial Hypercholesterolemia.Cardiovascular drugs and therapyPubMed ↗
- 2019Genetic testing for familial hypercholesterolemia: Impact on diagnosis, treatment and cardiovascular risk.European journal of preventive cardiologyPubMed ↗
- 2019Modifying inter-cistronic sequence significantly enhances IRES dependent second gene expression in bicistronic vector: Construction of optimised cassette for gene therapy of familial hypercholesterolemia.Non-coding RNA researchPubMed ↗
- 2019Spinocerebellar ataxia with axonal neuropathy type 1 revisited.Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaPubMed ↗
- 2019A short review of proprotein convertase subtilisin/kexin type 9 inhibitors.Reviews in cardiovascular medicinePubMed ↗
- 2019Genetic Risk Score for Coronary Disease Identifies Predispositions to Cardiovascular and Noncardiovascular Diseases.Journal of the American College of CardiologyPubMed ↗
- 2019PCSK9 and inflammation: a review of experimental and clinical evidence.European heart journal. Cardiovascular pharmacotherapyPubMed ↗
- 2019LDLR Gene Polymorphisms (rs5925 and rs1529729) Are Associated with Susceptibility to Coronary Artery Disease in a South Indian Population.Medical sciences (Basel, Switzerland)PubMed ↗
- 2019Assessment of family physicians' awareness and knowledge of familial hypercholesterolemia in governmental hospitals in Riyadh, Saudi Arabia.Journal of family medicine and primary carePubMed ↗
- 2019Treatment effect of alirocumab according to age group, smoking status, and hypertension: Pooled analysis from 10 randomized ODYSSEY studies.Journal of clinical lipidologyPubMed ↗
- 2019Familial hypercholesterolemia with bilateral cholesterol granuloma: A case series.International journal of surgery case reportsPubMed ↗
- 2019Molecular Dynamics Simulation Reveals Exposed Residues in the Ligand-Binding Domain of the Low-Density Lipoprotein Receptor that Interacts with Vesicular Stomatitis Virus-G Envelope.VirusesPubMed ↗
- 2018In Silico Approach to Investigate the Structural and Functional Attributes of Familial Hypercholesterolemia Variants Reported in the Saudi Population.Journal of computational biology : a journal of computational molecular cell biologyPubMed ↗
- 2018Prevalence, management, and outcomes of familial hypercholesterolemia in patients with acute coronary syndromes in the Arabian Gulf.Journal of clinical lipidologyPubMed ↗