Down syndrome
SaudiVarKB evidence summary derived from retained literature mentions.
164Phenotype mentions
100Publications
50Associated gene records
2Associated variant records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| DYRK1A | HGNC:3091 | 3 | 3 |
| LDLR | HGNC:6547 | 2 | 2 |
| RUNX1 | HGNC:10471 | 2 | 2 |
| PAH | HGNC:8582 | 1 | 1 |
| CD40 | HGNC:11919 | 1 | 1 |
| TBX4 | HGNC:11603 | 1 | 1 |
| G6PD | HGNC:4057 | 1 | 1 |
| CRLF2 | HGNC:14281 | 1 | 1 |
| BCR | HGNC:1014 | 1 | 1 |
| HMOX1 | HGNC:5013 | 1 | 1 |
| AGL | HGNC:321 | 1 | 1 |
| ABCB1 | HGNC:40 | 1 | 1 |
| FMR1 | HGNC:3775 | 1 | 1 |
| BRAF | HGNC:1097 | 1 | 1 |
| FLNA | HGNC:3754 | 1 | 1 |
| CLPP | HGNC:2084 | 1 | 1 |
| ASPM | HGNC:19048 | 1 | 1 |
| SCN5A | HGNC:10593 | 1 | 1 |
| CYP3A5 | HGNC:2638 | 1 | 1 |
| ATP8B1 | HGNC:3706 | 1 | 1 |
| EGFR | HGNC:3236 | 1 | 1 |
| IGHG4 | HGNC:5528 | 1 | 1 |
| RCAN1 | HGNC:3040 | 1 | 1 |
| CD44 | HGNC:1681 | 1 | 1 |
| PRDM13 | HGNC:13998 | 1 | 1 |
| KCNH2 | HGNC:6251 | 1 | 1 |
| GATA3 | HGNC:4172 | 1 | 1 |
| ENG | HGNC:3349 | 1 | 1 |
| GUSB | HGNC:4696 | 1 | 1 |
| FTO | HGNC:24678 | 1 | 1 |
| ZFP36 | HGNC:12862 | 1 | 1 |
| DSCAM | HGNC:3039 | 1 | 1 |
| KIF2A | HGNC:6318 | 1 | 1 |
| RPL27A | HGNC:10329 | 1 | 1 |
| CD200R1 | HGNC:24235 | 1 | 1 |
| STAMBP | HGNC:16950 | 1 | 1 |
| CD226 | HGNC:16961 | 1 | 1 |
| IDH1 | HGNC:5382 | 1 | 1 |
| IDH2 | HGNC:5383 | 1 | 1 |
| OGT | HGNC:8127 | 1 | 1 |
| TMEM70 | HGNC:26050 | 1 | 1 |
| MYC | HGNC:7553 | 1 | 1 |
| DDIT4 | HGNC:24944 | 1 | 1 |
| EPAS1 | HGNC:3374 | 1 | 1 |
| SFRP1 | HGNC:10776 | 1 | 1 |
| TPMT | HGNC:12014 | 1 | 1 |
| AIRE | HGNC:360 | 1 | 1 |
| ADO | HGNC:23506 | 1 | 1 |
| SUMO3 | HGNC:11124 | 1 | 1 |
| DNMT3L | HGNC:2980 | 1 | 1 |
Associated variant records
Co-mentioned in the same publicationsAssociated population records
Co-mentioned in the same publicationsSupporting publications
100 records- 2026The emerging role of immunotherapy in improving outcomes in Down syndrome - associated acute lymphoblastic leukemia: an insightful review.Leukemia & lymphoma1 mentions
- 2026Camp-based entertainment rehabilitation for young people with down syndrome in Saudi Arabia.Research in developmental disabilities1 mentions
- 2026The quality of life of parents of children with disabilities in Saudi Arabia: a systematic review.Frontiers in pediatrics1 mentions
- 2026Utility of Non-Invasive Prenatal Test (NIPT) as a Screening Tool for Fetal Aneuploidy in a Family Medicine Setting in Saudi Arabia.International journal of women's health1 mentions
- 2026Maternal experiences and family dynamics following Down syndrome diagnosis in Saudi Arabia.Frontiers in psychology1 mentions
- 2026Prevalence of Malnutrition Among School-Aged Children With and Without Intellectual and Developmental Disabilities in Saudi Arabia: A Cross-Sectional Study.Food science & nutrition1 mentions
- 2026Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunction.HGG advances1 mentions
- 2026Multidimensional Sleep Health of Toddlers With Down Syndrome: A Descriptive Study Guided by the Pediatric Sleep Health Framework.The American journal of occupational therapy : official publication of the American Occupational Therapy Association1 mentions
- 2026SUMO3/RUNX1/AIRE/RCAN1 and DNMT3L/DYRK1A/Let-7c-5p/VEGF axes: immune dysregulation and genetic susceptibility as pulmonary risk factors in Down syndrome.3 Biotech1 mentions
- 2026Genetic and Metabolic Basis of Increased Diabetes Mellitus Risk in Down Syndrome: A Narrative Review.Canadian journal of diabetes1 mentions
- 2026AI-guided meta-analysis of non-invasive prenatal testing platforms for trisomy 21 screening: comparative evaluation of cffDNA and fetal cell-based approaches.BMC pregnancy and childbirth1 mentions
- 2026Association of ABO blood groups and Rh Factor with autism spectrum disorder, down syndrome, and attention deficit hyperactivity disorder among children in the Saudi population.Pakistan journal of medical sciences1 mentions
- 2026Parental Knowledge of Pediatric Cancer Symptoms and Characteristics in Tabuk City: A Cross-sectional Study.Annals of African medicine1 mentions
- 2025Dietary pattern, physical activity and body composition of Children with and without Down Syndrome - A case control study.Journal of intellectual disabilities : JOID1 mentions
- 2025A Review of Artificial Intelligence-Based Down Syndrome Detection Techniques.Life (Basel, Switzerland)1 mentions
- 2025Prevalence and impact of endocrinopathies on growth in pediatric down syndrome patients: A retrospective analysis.Saudi medical journal1 mentions
- 2025Structural Dynamics and Network Pharmacology for the Discovery of Inhibitors Targeting DYRK1 A in Neurological Disorders.Molecular neurobiology1 mentions
- 2025Rhythm Disturbances in Children With Down Syndrome who Underwent Surgery for Congenital Heart Defects.World journal for pediatric & congenital heart surgery1 mentions
- 2025Prevalence of Respiratory Symptoms in Individuals With Down's Syndrome in Saudi Arabia: A Cross-Sectional Study.Journal of applied research in intellectual disabilities : JARID1 mentions
- 2025Integration of Ti3C2Tx MXene in the selection of DNA aptamers for FMRP for the diagnosis of fragile X syndrome.International journal of biological macromolecules1 mentions
- 2025Assessing the impact of AI tools on mobility and daily assistance for children with down syndrome in Saudi Arabia.Scientific reports1 mentions
- 2025Quality of life of mothers of children with Down syndrome: a study comparing those with and without hearing loss.Frontiers in psychiatry1 mentions
- 2025Cardiovascular Anomalies Associated With Esophageal Atresia: A 23-Year Single-Center Experience.Cureus1 mentions
- 2025Anesthetic implications of elective cesarean section in a parturient with Noonan syndrome and complex cardiomyopathy: A case report.Saudi journal of anaesthesia1 mentions
- 2025Detection of Chromosomal Aneuploidy Using Exome Sequencing.Genes1 mentions
- 2025Deep Learning-Powered Down Syndrome Detection Using Facial Images.Life (Basel, Switzerland)1 mentions
- 2025Occiput-to-C4 fixation skipping C3 in a pediatric Down syndrome patient with atlantoaxial subluxation and basilar invagination: A case report.Surgical neurology international1 mentions
- 2025Balancing costs and care: a healthcare cost analysis for families of children with Down syndrome in Saudi Arabia.Frontiers in public health1 mentions
- 2024Pregnancy, delivery, and neonatal outcomes among women living with Down syndrome: a matched cohort study, utilizing a population database.Archives of gynecology and obstetrics1 mentions
- 2024Challenging behaviour and its correlates in preschool-aged children with an intellectual disability in Saudi Arabia.Journal of intellectual disability research : JIDR1 mentions
- 2024Quality of life in children with Down syndrome and its association with parent and child demographic characteristics: Parent-reported measures.Molecular genetics & genomic medicine1 mentions
- 2024The challenge of a mature final diagnosis of hearing loss severity and early cochlear implantation.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery1 mentions
- 2024Walking capacity and its association with quality of life among children with down syndrome in Saudi Arabia.BMC pediatrics1 mentions
- 2024Molecular cytogenetic analysis of multi-miscarriage products of conception in clinical cases from Al-Anbar Governorate, west of Iraq.Saudi journal of biological sciences1 mentions
- 2024Physical activity status and its association with quality of life among children with down syndrome in Saudi Arabia: A comparative cross-sectional study.PloS one1 mentions
- 2024COVID-19 in patients with Down syndrome: A systematic review.Immunity, inflammation and disease1 mentions
- 2024Advancing fetal ultrasound diagnostics: Innovative methodologies for improved accuracy in detecting down syndrome.Medical engineering & physics1 mentions
- 2024Beckwith-Wiedemann Syndrome With Severe Relapsing Hypoglycemia After the Neonatal Period: A Case Report and a Literature Review.Cureus1 mentions
- 2024Cardiac Complications in Trisomy 21 Patients in a Secondary Hospital: A Descriptive Study.Cureus1 mentions
- 2024Simultaneous repair of diaphragmatic hernia and ventricular septal defect with postoperative complication in a Down syndrome child.Journal of surgical case reports1 mentions
- 2024Aging exacerbates oxidative stress and liver fibrosis in an animal model of Down Syndrome.Aging1 mentions
- 2024Morphometric analysis of atlas lateral mass in Down syndrome cases with relevance to surgical intervention.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society1 mentions
- 2024Opioid and benzodiazepine requirements in critically ill post-surgical children with down syndrome: a systematic review and meta-analysis.BMC pediatrics1 mentions
- 2024Network Pharmacology Identifies Intersection Genes of Apigenin and Naringenin in Down Syndrome as Potential Therapeutic Targets.Pharmaceuticals (Basel, Switzerland)1 mentions
- 2024Awareness of down syndrome screening among educated Muslim women is associated with a favorable attitude toward testing.BMC women's health1 mentions
- 2024Disabilities and Disparities in Oral Health-Related Quality of Life: A Systematic Review and Meta-Analysis in Saudi Arabia.Medicina (Kaunas, Lithuania)1 mentions
- 2023Maternal perspectives: The needs of Saudi families of children with Down's syndrome.Journal of intellectual disabilities : JOID1 mentions
- 2023Access to dental care for children with special health care needs: a cross-sectional community survey within Jeddah, Saudi Arabia.The Journal of clinical pediatric dentistry1 mentions
- 2023Quality of Life Among Down Syndrome Patients With and Without Congenital Heart Disease at King Abdulaziz University Hospital, Jeddah, Saudi Arabia.Cureus1 mentions
- 2023Moyamoya syndrome secondary to mitochondrial disease in a patient with partial trisomy 13q14 and 13q31: A novel case report and literature review.Heliyon1 mentions
- 2023Down syndrome patients with normal hearts: are they really normal?Medicine1 mentions
- 2023Epidemiology and Risk Factor Analysis of Children with Bronchiolitis Admitted to the Intensive Care Unit at a Tertiary Care Center in Saudi Arabia.Children (Basel, Switzerland)1 mentions
- 2023Exploring the Influence of the Coronavirus Disease 2019 Pandemic on the Accessibility of Rehabilitation Services Provided to Children with Disabilities: A Cross-Sectional Study.Medicina (Kaunas, Lithuania)1 mentions
- 2023Prevalence of bruxism in down syndrome patients: A systematic review and meta-analysis.Journal of oral rehabilitation1 mentions
- 2023The Outcome of Congenital Cardiac Surgery in Patients with Down Syndrome: Single-Center Experience.The heart surgery forum1 mentions
- 2023Non-invasive prenatal testing: a revolutionary journey in prenatal testing.Frontiers in medicine1 mentions
- 2023Unraveling Down Syndrome: From Genetic Anomaly to Artificial Intelligence-Enhanced Diagnosis.Biomedicines1 mentions
- 2022Gain in growth after surgical repair of congenital heart disease among children with Down syndrome.American journal of medical genetics. Part A1 mentions
- 2022Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums.American journal of medical genetics. Part A1 mentions
- 2022Management outcomes of otitis media with effusion in children with down syndrome: A systematic review.International journal of pediatric otorhinolaryngology1 mentions
- 2022Distinct effects of trampoline-based stretch-shortening cycle exercises on muscle strength and postural control in children with Down syndrome: a randomized controlled study.European review for medical and pharmacological sciences1 mentions
- 2022Inspiratory Muscle Training and Physical Fitness in Children With Down Syndrome: A Randomized Controlled Trial.Archives of physical medicine and rehabilitation1 mentions
- 2022Down-Klinefelter Syndrome (48,XXY,+21) in a Saudi Neonate: A Case Report and Literature Review.Cureus1 mentions
- 2022The evolving treatment of congenital heart disease in patient with Down syndrome: Current state of knowledge.Journal of cardiac surgery1 mentions
- 2022Predictors of major adverse events and complications after ventricular septal defects surgical closure in children less than 10 kg.Journal of cardiothoracic surgery1 mentions
- 2022Assessment of the Correlation between the Levels of Physical Activity and Technology Usage among Children with Down Syndrome in the Riyadh Region.International journal of environmental research and public health1 mentions
- 2022Conventional surgery versus botulinum toxin injection for the management of esotropia in children with Down syndrome.Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus1 mentions
- 2022A rare association of Down syndrome with Dandy -Walker variant, pulmonary hypertension and childhood interstitial lung disease: A case report of a prognostic dilemma.Journal of Taibah University Medical Sciences1 mentions
- 2022Differential expression of cystathionine beta synthase in adolescents with Down syndrome: impact on adiposity.Journal of diabetes and metabolic disorders1 mentions
- 2022Dental Plaque Removal with Two Special Needs Toothbrushes in Patients with Down Syndrome: A Parallel-Group Randomised Clinical Trial of Efficacy.Oral health & preventive dentistry1 mentions
- 2022Prevalence of Congenital Heart Defects in Individuals With Down Syndrome in Saudi Arabia: A Systematic Review and Meta-Analysis.Cureus1 mentions
- 2021Supraglottoplasty in the management of laryngomalacia in children with down syndrome: A systematic review.International journal of pediatric otorhinolaryngology1 mentions
- 2021Mutations Encountered in Acute Lymphoblastic Leukemia: A Retrospective Study in a Teaching Hospital in Jeddah, Saudi Arabia.Cureus1 mentions
- 2021Clinical Presentation and Successful Management of an Infant With Down Syndrome and COVID-19 in Riyadh, Saudi Arabia.Cureus1 mentions
- 2021Congenital Heart Defect and Pulmonary Hypertension in Children With Down Syndrome: Clinical Profile Over Two Decades.Cureus1 mentions
- 2021Autism medical comorbidities.World journal of clinical pediatrics1 mentions
- 2021Physical activity among children with down syndrome: maternal perception.International journal of qualitative studies on health and well-being1 mentions
- 2021Phonological development in school-aged Kuwaiti Arabic children with Down syndrome: A pilot study.Journal of communication disorders1 mentions
- 2021The Burden of Dementia due to Down Syndrome, Parkinson's Disease, Stroke, and Traumatic Brain Injury: A Systematic Analysis for the Global Burden of Disease Study 2019.Neuroepidemiology1 mentions
- 2021Impact of two different pulmonary rehabilitation methods in children with down syndrome.Journal of bodywork and movement therapies1 mentions
- 2021Molecular basis of immunoglobulin heavy constant G4 gene (IGHG4)-related low serum IgG4 subclasses in Down syndrome.Saudi medical journal1 mentions
- 2021Relationship between dynamic foot-ground contact area and balance impairments in adolescents with down syndrome.Journal of pediatric rehabilitation medicine1 mentions
- 2021Adalimumab Therapy in a Patient with Psoriasis, Down Syndrome, and Concomitant Hepatitis B Virus Infection.Biologics : targets & therapy1 mentions
- 2021Prevalence of congenital heart disease among patients with down syndrome in Southwestern Saudi Arabia.Annals of African medicine1 mentions
- 2020Audiologic testing in children with Down Syndrome: Are current guidelines optimal?International journal of pediatric otorhinolaryngology1 mentions
- 2020Bite Force and Occlusal Patterns in the Mixed Dentition of Children with Down Syndrome.Journal of prosthodontics : official journal of the American College of Prosthodontists1 mentions
- 2020The Prevalence of Congenital Heart Diseases in Syndromic Children at King Khalid National Guard Hospital from 2005 to 2016.Cureus1 mentions
- 2020Hidradenitis suppurativa and Down syndrome: A systematic review and meta-analysis.Pediatric dermatology1 mentions
- 2019Factors affecting participation in physical activities in Saudi children with Down syndrome: mothers' perspectives.Disability and rehabilitation1 mentions
- 2019Celiac disease among at-risk individuals in Saudi Arabia.Saudi medical journal1 mentions
- 2019Self-Induced Traumatic Macroglossia: Case Report and Literature Review.Case reports in otolaryngology1 mentions
- 2019Effect of Core Stability Exercises and Treadmill Training on Balance in Children with Down Syndrome: Randomized Controlled Trial.Advances in therapy1 mentions
- 2019Genetic disorder prenatal diagnosis and pregnancy termination practices among high consanguinity population, Saudi Arabia.Scientific reports1 mentions
- 2019Outcomes of surgical repair of complete atrioventricular canal defect in patients younger than 2 years of age.Annals of Saudi medicine1 mentions
- 2019Sleep Quality in a Case-control Subset of Trisomy 21 and Typically Developing Children in Riyadh, Kingdom of Saudi Arabia.The journal of contemporary dental practice1 mentions
- 2019Antiepileptic Drugs Usage in Pregnant Women with Epilepsy in Saudi Arabia.Journal of epilepsy research1 mentions
- 2018Prosthodontic Rehabilitation for a Patient with Down Syndrome: A Clinical Report.Journal of prosthodontics : official journal of the American College of Prosthodontists1 mentions
- 2018The evaluation and management of respiratory disease in children with Down syndrome (DS).Paediatric respiratory reviews1 mentions
- 2018Outcome of orthodontic palatal plate therapy for orofacial dysfunction in children with Down syndrome: A systematic review.Orthodontics & craniofacial research1 mentions
- 2018Association between body mass index and dental caries among special care female children in Makkah City.Annals of Saudi medicine1 mentions