Uma doença de retina genética, ligada ao cromossomo X, que causa pouca pigmentação no fundo do olho, visão reduzida, movimentos involuntários dos olhos (nistagmo), astigmatismo, miopia progressiva (que faz o olho alongar), dificuldade para enxergar no escuro e dificuldade para diferenciar as cores vermelho e verde (protanopia).
Introdução
O que você precisa saber de cara
Uma doença de retina genética, ligada ao cromossomo X, que causa pouca pigmentação no fundo do olho, visão reduzida, movimentos involuntários dos olhos (nistagmo), astigmatismo, miopia progressiva (que faz o olho alongar), dificuldade para enxergar no escuro e dificuldade para diferenciar as cores vermelho e verde (protanopia).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 7 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 13 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: X-linked recessive.
Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1F gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkyla
Membrane
Night blindness, congenital stationary, 2A
A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.
Variantes genéticas (ClinVar)
420 variantes patogênicas registradas no ClinVar.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Doença ocular tipo ilha Aland
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
The role of noninfectious comorbidities in the association between severe infections and risk of dementia in Finland: A nationwide registry study.
Severe infections have been linked to an increased risk of dementia, but both conditions often coexist with other illnesses that may confound this association. Using nationwide Finnish health registry data, we examined the role of noninfectious mental and physical illnesses in the association between severe infections and dementia. This register-based study included 62,555 individuals aged 65 or older in Finland in 2016 who were diagnosed with late-onset dementia between 2017 and 2020 and 312,772 dementia-free controls matched for year of birth, sex, and the follow-up period. Analyses were adjusted for education, marital status, employment, and area of residence, with age and sex accounted for through the matched conditional design and analysis. Applying a 1-year lag period, we identified 29 hospital-treated diseases that occurred 1-21 years before dementia diagnosis in cases (or index date in controls), had a prevalence of ≥ 1% prior to dementia, and were robustly associated with increased dementia risk (confounder-adjusted rate ratio ≥ 1.20, p < 0.000294). In addition to 2 infectious diseases (cystitis and bacterial infection of an unspecified site), these included 27 mental, behavioural, digestive, endocrine, cardiometabolic, neurological, and eye diseases, as well as injuries. 29,376 (47%) of the dementia cases had at least one of these diseases diagnosed before dementia. The associations between the two infectious diseases and dementia risk were not attributable to the 27 comorbid dementia-related diseases diagnosed before infections. The adjusted rate ratio for cystitis was 1.22 (95% confidence interval (CI) [1.17, 1.27]; p < 0.001) before and 1.19 (95% CI [1.14, 1.24]; p < 0.001) after adjustment for comorbidities, while for bacterial infections of an unspecified site, the rate ratios were 1.21 (95% CI [1.16, 1.28]; p < 0.001) and 1.19 (95% CI [1.13, 1.25]; p < 0.001), respectively. The findings were comparable across subgroups defined by sex and education, and stronger for cases of early onset dementia. We were not able to directly assess psychosocial, behavioural, or biological confounders that are not captured in nationwide registries. This nationwide Finnish study identified several mental and physical diseases that are associated with an increased risk of dementia and showed that the increased incidence of dementia among individuals with severe infections is not attributable to these comorbid conditions. These results support the role of severe infections as independent risk factors for dementia.
Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.
Biallelic DIAPH1 pathogenic variants cause a neurodevelopmental syndrome occasionally associated with immunodeficiency. This study aims to define the clinical and immunological spectrum of DIAPH1-related neuroimmunological syndrome and explore the gene's developmental role using vertebrate models. 53 individuals with biallelic DIAPH1 variants, including 33 previously unreported patients were studied. Clinical features were analysed and functional studies were conducted using knockout models in Danio rerio and Xenopus tropicalis. Clinical features included developmental delay, intellectual disability, progressive microcephaly, cortical visual impairment or blindness, epilepsy, and frequent occipital-predominant brain abnormalities. Almost half suffered from infections, mainly affecting their respiratory tract related to epilepsy and aspiration. Although the majority had normal lymphocyte subsets and serum immunoglobulins, T-cell receptor excision circles and naïve T-lymphocyte counts were consistently low. The Xenopus model mirrored growth and eye defects seen in humans, while zebrafish exhibited no overt malformations but showed seizure-like behaviour in Phenothiazine assays. DIAPH1 is critical for neurodevelopment, immune regulation, and DNA repair. The DNA repair defect may influence susceptibility to infection, lymphoma, or treatment-related toxicity. Although absolute T-cell numbers are not consistent with SCID, impaired T-cell maturation suggests these patients could be identified by TREC newborn screening before neurological symptoms develop.
Global, regional, and national burden of breast cancer among females, 1990-2023, with forecasts to 2050: a systematic analysis for the Global Burden of Disease Study 2023.
Breast cancer is a leading cause of mortality and morbidity among females worldwide. As part of the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2023, we provided an updated comprehensive assessment of the epidemiological trends, disease burden, and risk factors associated with breast cancer globally, regionally, and nationally from 1990 to 2023. Breast cancer incidence, mortality, prevalence, years lived with disability (YLDs), years of life lost (YLLs), and disability-adjusted life-years (DALYs) were estimated by age and sex for 204 countries and territories from 1990 to 2023. Mortality estimates were generated using GBD Cause of Death Ensemble models, leveraging data from population-based cancer registration systems, vital registration systems, and verbal autopsies. Mortality-to-incidence ratios were calculated to derive both mortality and incidence estimates. Prevalence was calculated by combining incidence and modelled survival estimates. YLLs were established by multiplying age-specific deaths with the GBD standard life expectancy at the age of death. YLDs were estimated by applying disability weights to prevalence estimates. The sum of YLLs and YLDs equalled the number of DALYs. Breast cancer burden attributable to seven risk factors was examined through the comparative risk assessment framework. The GBD forecasting framework was used to forecast breast cancer incidence and mortality from 2024 to 2050. Age-standardised rates were calculated for each metric using the GBD 2023 world standard population. In 2023, there were an estimated 2·30 million (95% uncertainty interval [UI] 2·01 to 2·61) breast cancer incident cases, 764 000 deaths (672 000 to 854 000), and 24·1 million (21·3 to 27·5) DALYs among females globally. In the World Bank low-income group, where a low age-standardised incidence rate (ASIR) was estimated (44·2 per 100 000 person-years [31·2 to 58·4]), the age-standardised mortality rate (ASMR) was the highest (24·1 per 100 000 [16·8 to 31·9]). The highest ASIR was in the high-income group (75·7 per 100 000 [67·1 to 84·0]), and the lowest ASMR was in the upper-middle-income group (11·2 per 100 000 [10·2 to 12·3]). Between 1990 and 2023, the ASIR in the low-income group increased by 147·2% (38·1 to 271·7), compared with a 1·2% (-11·5 to 17·2) change in the high-income group. The ASMR decreased in the high-income group, changing by -29·9% (-33·6 to -25·9), but increased by 99·3% (12·5 to 202·9) in the low-income group. The increase in age-standardised DALY rates followed that of ASMRs. Risk factors such as dietary risks, tobacco use, and high fasting plasma glucose contributed to 28·3% (16·6 to 38·9) of breast cancer DALYs in 2023. The risk factors with a decrease in attributable DALYs between 1990 and 2023 were high alcohol use and tobacco. By 2050, the global incident cases of breast cancer among females were forecast to reach 3·56 million (2·29 to 4·83), with 1·37 million (0·841 to 2·02) deaths. The stable incidence and declining mortality rates of female breast cancer in high-income nations reflect success in screening, diagnosis, and treatment. In contrast, the concurrent rise in incidence and mortality in other regions signals health system deficits. Without effective interventions, many countries will fall short of the WHO Global Breast Cancer Initiative's ambitious target of achieving an annual reduction of 2·5% in age-standardised mortality rates by 2040. The mounting breast cancer burden, disproportionately affecting some of the world's most vulnerable populations, will further exacerbate health inequalities across the globe without decisive immediate action. Gates Foundation, St Jude Children's Research Hospital.
Integrative Proteogenomic Analysis Identifies Genetically Supported Plasma Proteins, Metabolites, and Pathways in Glaucoma.
Glaucoma is a leading cause of irreversible blindness, yet the circulating proteins and metabolic pathways that causally contribute to different glaucoma subtypes remain poorly defined. We analyzed baseline plasma proteomics in 1485 glaucoma cases (447 primary open‑angle glaucoma [POAG], 177 primary angle-closure glaucoma [PACG], 120 normal-tension glaucoma [NTG]) in the UK Biobank using Cox models with graded adjustment. We then integrated five independent protein quantitative trait loci resources with FINLAND R12 genome-wide association study data to perform two‑sample Mendelian randomization (MR) and cross‑cohort meta‑analysis for overall glaucoma and each subtype. To prioritize effector genes and pathways, we conducted summary-data-based Mendelian randomization (SMR) using eQTLGen and two‑step mediation MR using metabolite quantitative trait loci data for ∼1400 plasma metabolites from the Canadian Longitudinal Study on Aging cohort. In fully adjusted Cox models, 484 proteins were associated with incident glaucoma, 135 with NTG, 59 with POAG, and 1 with PACG (false discovery rate <0.05). Multicohort MR and meta‑analysis identified eight proteins with robust causal effects: NRP2, TSPAN1, and HAVCR2 for overall glaucoma; NRXN3 for PACG; MANSC4 for NTG; and LTBP2, CD69, and SMAD1 for POAG. SMR supported NRP2 (overall glaucoma) and SMAD1 (POAG) as causal genes. Mediation MR revealed that sphingomyelins, acylcarnitines, and bile acid-related metabolites partially mediated the effects of several proteins, defining shared (e.g., sphingolipid) and subtype‑specific metabolic pathways. By integrating epidemiologic, proteomic, genetic, and metabolomic data, we identify convergent systemic protein and metabolic signatures associated with glaucoma susceptibility and its clinical subtypes. These findings nominate NRP2, SMAD1, and related pathways as promising biomarkers and therapeutic targets and support a systems‑level view of glaucoma pathogenesis beyond intraocular pressure alone.
A Randomized Trial of Tenecteplase in Acute Central Retinal Artery Occlusion.
Central retinal artery occlusion can result in permanent vision loss. Effective treatment is lacking. We conducted a phase 3, double-blind, double-dummy, randomized, controlled trial involving adults with acute, nonarteritic central retinal artery occlusion who had symptom onset within 4.5 hours before treatment. Patients were assigned, in a 1:1 ratio, to receive intravenous tenecteplase (at a dose of 0.25 mg per kilogram of body weight) and oral placebo or intravenous placebo and oral aspirin (at a dose of 300 mg). The primary end point was vision recovery, defined as a best corrected visual acuity (BCVA) in the affected eye at 30 days of up to 0.7 logMAR (logarithm of the minimum angle of resolution; equivalent to ≥20/100). Key secondary visual end points were a BCVA of up to 0.5 logMAR (equivalent to ≥20/63), mean improvement in BCVA, and perimetry score at 30 days. Key safety end points included symptomatic intracranial hemorrhage, major bleeding, and death. A total of 78 patients at 16 sites in six countries underwent randomization, with 40 assigned to receive tenecteplase and 38 to receive aspirin. At 30 days, 8 patients (20%) in the tenecteplase group and 9 patients (24%) in the aspirin group had vision recovery (risk difference, -3.7 percentage points; 95% confidence interval, -22.0 to 14.7; P = 0.69). The outcomes with regard to the secondary visual end points did not differ substantially between the groups. There was a greater incidence of adverse events in the tenecteplase group, including one fatal intracranial hemorrhage. Intravenous tenecteplase administered within 4.5 hours after onset of central retinal artery occlusion did not result in significantly greater vision recovery at 30 days than oral aspirin but was associated with serious safety concerns. (Funded by Oslo University Hospital and others; TenCRAOS ClinicalTrials.gov number, NCT04526951; EU Clinical Trials number, 2024-517606-29-00.).
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Allergic Rhinitis and Its Impact on Asthma (ARIA)-EAACI Guidelines-2024-2025 Revision: Part II-Guidelines on Oral and Ocular Treatments.
AllergyThe role of noninfectious comorbidities in the association between severe infections and risk of dementia in Finland: A nationwide registry study.
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Science advancesA Study of 24-h Efficacy and Safety of Sepetaprost vs. Latanoprost in Patients with Primary Open-Angle Glaucoma or Ocular Hypertension.
Advances in therapyThe role of secretory autophagy and exosomes in the accumulation of drusen during the development of age-related macular degeneration (AMD).
Ageing research reviewsNeuroinflammation Markers in Tear Fluid of Mild Alzheimer's Disease.
Journal of molecular neuroscience : MNCompartmentalized 3D bioprinting of the limbal niche with distinct hPSC-LSC subpopulations for corneal disease modeling.
Acta biomaterialiaCataract surgical training in Poland: analysis of the European board of ophthalmology survey results.
BMC medical educationSerum RNA Profile Reflects Fluid Status and Atrophic Retinal Changes in Neovascular Age-Related Macular Degeneration.
International journal of molecular sciencesArea Under the Curve Analysis in a Real-World Cohort of Finnish Patients Treated for Neovascular Age-Related Macular Degeneration.
Translational vision science & technologyAutomated Diabetic Retinopathy Screening in Out-patient Diabetes Care - Comparison of Two Artificial Intelligence Algorithms: RetCAD and OphtAI.
Klinische Monatsblatter fur AugenheilkundeGlobal, Regional, and National Burden of Nontraumatic Subarachnoid Hemorrhage: The Global Burden of Disease Study 2021.
JAMA neurologyProgression and topographic subtypes of Terrien marginal degeneration.
Acta ophthalmologicaOutsourced eye care in the Finnish capital region: Switching from fee-for-service to bundled payment model.
Acta ophthalmologicaNovel Pathogenic Variants in IFT140 and IFT172 Genes in Three Patients with Similar Retinal Dystrophy Phenotypes.
Case reports in ophthalmologyInnovative application of confocal Raman spectroscopy and Machine learning in cardiovascular diseases identification.
Spectrochimica acta. Part A, Molecular and biomolecular spectroscopyEffect of anticholinergic eye drops on intraorbital, periorbital and brain pulsation power.
Acta ophthalmologicaComparison of Customized and Standard Corneal Cross-linking for Ectasia After Laser in Situ Keratomileusis.
Journal of refractive surgery (Thorofare, N.J. : 1995)Characterising acute and chronic care needs: insights from the Global Burden of Disease Study 2019.
Nature communicationsOrbital exenteration in the management of orbital and periorbital tumours: Factors related to treatment outcomes.
Journal of plastic, reconstructive & aesthetic surgery : JPRASRare genetic variation in PTPRB is associated with central serous chorioretinopathy, varicose veins and glaucoma.
Nature communicationsPotential of autophagy in subretinal fibrosis in neovascular age-related macular degeneration.
Cellular & molecular biology lettersDrivers Shaping Spillover of Aleutian Mink Disease Virus Introduced With American Mink Among Native Mustelids.
Transboundary and emerging diseasesThe Impacts of Caregiving for Patients with X-Linked Retinitis Pigmentosa (XLRP): Findings from the EXPLORE XLRP-2 Study.
Advances in therapyEvaluation of a New Non-Mydriatic Handheld Fundus Camera for Fundus Imaging in Cats: A Retrospective Study: 208 Cases (2023-2024).
Veterinary medicine and scienceIn vitro biophysical and biological profiling of commercial lipid-based dry eye products.
European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical SciencesReproducibility and reliability of intraocular pressure self-measurement with iCare® HOME2 compared to Goldmann applanation tonometry.
Journal francais d'ophtalmologieGenetic Risk for Open-Angle Glaucoma Subtypes Is Associated with Specific Visual Field Defect Classes.
OphthalmologyCommon variants in the CPT1A gene are associated with cataracts in Northern breeds of domestic dog.
PloS oneAltered tear fluid protein expression in persons with mild Alzheimer's disease in proteins involved in oxidative stress, protein synthesis, and energy metabolism.
Journal of Alzheimer's disease : JADCircadian clock disruption promotes retinal photoreceptor degeneration.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyOculoplastic complications in patients with adenoviral keratoconjunctivitis.
Orbit (Amsterdam, Netherlands)Uncovering potential interviewer-related biases in self-efficacy assessment: a study among chronic disease patients.
BMC psychologyBlood pressure in childhood, young- and mid-adulthood: association with carotid plaque severity.
European heart journalEnzyme Replacement Therapy in CLN2-Associated Retinopathy.
Klinische Monatsblatter fur AugenheilkundeEtiology of Anterior Uveitis in a Finnish Single-Center Register Study - Differences in Clinical Characteristics, Treatment Outcomes, and Ocular Complications.
Ocular immunology and inflammationAdvanced SERSome-based artificial-intelligence technology for identifying medicinal and edible homologs.
TalantaAdvances in environmental pollutant detection techniques: Enhancing public health monitoring and risk assessment.
Environment internationalCorrelation between aqueous flare levels and anti-VEGF treatment response in wet age-related macular degeneration.
European journal of ophthalmologyPrevalence and associated factors of reduced visual acuity and undercorrected refractive error in Finland: Results from a nationwide survey.
Acta ophthalmologicaEffect of Customized Corneal Crosslinking on Patients With Pellucid Marginal Degeneration.
CorneaErrors and Delays in Diagnosing Keratitis Fugax Hereditaria.
American journal of ophthalmologyReliability of Self-Monitoring of Intraocular Pressure With iCare Home2 Rebound Tonometry.
Journal of glaucomaSurface-enhanced Raman spectroscopy in pharmaceutical analysis: from component determination to mechanism research.
Mikrochimica actaNovel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes.
European journal of human genetics : EJHGDelivery of Fenofibrate to Ocular Tissues using 2-Hydroxypropyl-β-cyclodextrin-Based Micelles.
International journal of pharmaceuticsProtective Role and Enhanced Intracellular Uptake of Curcumin in Retinal Cells Using Self-Emulsifying Drug Delivery Systems (SNEDDS).
Pharmaceuticals (Basel, Switzerland)Oil-in-water nanoemulsions for glaucoma treatment: An insight into the latest trends.
BioImpacts : BIExploring the protective effects of vasoactive intestinal peptides on dry eye disease in SARS-CoV-2 survivors.
Molecular visionOverlap in the diagnostic criteria of frontotemporal dementia syndromes with parkinsonism.
Journal of Alzheimer's disease : JADAdherence to Treatment in Allergic Rhinitis During the Pollen Season in Europe: A MASK-air Study.
Clinical and experimental allergy : journal of the British Society for Allergy and Clinical ImmunologyAssign a systematic traumatological status in orbital fracture patients - A prospective cohort study.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryValidation of manually scored multichannel frontal electroencephalography against polysomnography in a paediatric cohort.
Journal of sleep researchPrototype master protocol for benchmarking of real-world follow-up data in glaucoma.
Acta ophthalmologicaFibrotic Changes in Rhegmatogenous Retinal Detachment.
International journal of molecular sciencesScreening of homing and tissue-penetrating peptides by microdialysis and in vivo phage display.
Life science allianceCan the choice of artificial tears harm patients? A narrative review with an overview of the Nordic market.
Acta ophthalmologicaNigral Neuroinflammation and Dopaminergic Neurons in Parkinson's Disease and Atypical Parkinsonisms.
Annals of neurologyThe interaction between comorbidities and sleep stages influences oxygen re-saturation characteristics.
Journal of sleep researchFirst-line glaucoma monotherapy medication patterns in Finland during 1995-2019 based on a population-based study.
PloS oneLong-term visual outcomes and side effects of ruthenium plaque brachytherapy in 310 eyes with small choroidal melanoma.
The British journal of ophthalmologyIntegrin Trafficking, Fibronectin Architecture, and Glomerular Injury upon Adiponectin Receptor 1 Depletion.
Journal of the American Society of Nephrology : JASNImpact of signs and symptoms of dry eye disease on health-related quality of life: a cross-sectional population study among older adults.
Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitationAllergic Rhinitis and its Impact on Asthma (ARIA) Classes in MASK-air Users.
Journal of investigational allergology & clinical immunologyNeovascular age-related macular degeneration on three nationwide survey and register data in Finland during 2000-2017.
Acta ophthalmologicaSocietal costs of decreased visual acuity: A Finnish cohort study with 15 years of registry data follow-up.
Acta ophthalmologicaDNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
American journal of human geneticsMelanin-Binding-Based Discovery of Topically Instilled Carbonic Anhydrase Inhibitors for Targeted Delivery and Prolonged Action in the Eye.
Molecular pharmaceuticsThe burden of X-linked retinitis pigmentosa (XLRP) on patient experience and patient-reported outcomes (PROs): findings from the EXPLORE XLRP-2 study.
Eye (London, England)Gout and Hyperuricemia: A Narrative Review of Their Comorbidities and Clinical Implications.
Journal of clinical medicineGenome-wide association study of anterior uveitis.
The British journal of ophthalmologyAssociation of intravitreal and topical anti-inflammatory therapies on short-term anatomical and functional outcomes following epiretinal membrane surgery.
Acta ophthalmologicaIs it the right time to promote competency-based European Training Requirements in Ophthalmology? A European Board of Ophthalmology survey.
Acta ophthalmologicaThe Relevance and Potential Role of Orbital Fat in Inflammatory Orbital Diseases: Implications for Diagnosis and Treatment.
Ophthalmology and therapyAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- The role of noninfectious comorbidities in the association between severe infections and risk of dementia in Finland: A nationwide registry study.
- Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.Genetics in medicine : official journal of the American College of Medical Genetics· 2026· PMID 41860019mais citado
- Global, regional, and national burden of breast cancer among females, 1990-2023, with forecasts to 2050: a systematic analysis for the Global Burden of Disease Study 2023.
- Integrative Proteogenomic Analysis Identifies Genetically Supported Plasma Proteins, Metabolites, and Pathways in Glaucoma.
- A Randomized Trial of Tenecteplase in Acute Central Retinal Artery Occlusion.
- The Impact of AI on Learners' Self-Efficacy: A Meta-Analysis.
- Seasonal Variation in Autoimmune Inner Ear Disease: A Preliminary Study.
- Ethical considerations for teaching with artificial intelligence: a scoping review in medical education settings.
- How does emotion regulation affect adolescents' social adaptability? Building bridges for parent-child communication, empowered by AI education.
- Primary and secondary autoimmune disorders and hearing loss.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:178333(Orphanet)
- OMIM OMIM:300600(OMIM)
- MONDO:0010371(MONDO)
- GARD:10574(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q9190381(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar