Uma doença que afeta o ouvido, nariz e garganta, causada por uma alteração no DNA da pessoa.
Introdução
O que você precisa saber de cara
Uma doença que afeta o ouvido, nariz e garganta, causada por uma alteração no DNA da pessoa.
Encontrou um erro ou informação desatualizada? Sugira uma correção →
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
+ 57 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 141 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
11 genes identificados com associação a esta condição.
Probable transcription factor which exert its primary action widely during early neural development and in a very limited set of neurons in the mature brain
Nucleus
Deafness, X-linked, 2
A form of deafness characterized by both conductive hearing loss resulting from stapes (perilymphatic gusher) fixation, and progressive sensorineural deafness.
Pore-forming subunit of the olfactory cyclic nucleotide-gated channel. Operates in the cilia of olfactory sensory neurons where chemical stimulation of the odorant is converted to an electrical signal. Mediates odorant-induced cAMP-dependent Ca(2+) influx triggering neuron depolarization. The rise of intracellular Ca(2+) levels potentiates the olfactory response by activating Ca(2+)-dependent Cl(-) channels, but it also serves as a negative feedback signal to desensitize the channel for rapid ad
Cell projection, cilium membrane
Involved in neural development, regulating the establishment of proper connectivity within the nervous system. May function as a cellular signal transducer (By similarity) Plays a role in the regulation of neuroplasticity in the limbic system. Mediates a rapid reorganization of actin- and tubulin-based cytoskeleton elements with an increase in dendritic arborization and spine density formation of neurons in the hippocampus and amygdala. Induces BDNF transcription inhibition in neurons. Activates
Cell membraneNucleusNucleus speckleNucleus matrixCytoplasm, cytoskeletonCytoplasm
Transcription factor required for proper proliferation and differentiation in the gastrointestinal epithelium. Target gene of the hedgehog (Hh) signaling pathway via GLI2 and GLI3 transcription factors (By similarity)
Nucleus
Otosclerosis 11
A form of otosclerosis, a pathological condition of the ear characterized by formation of spongy bone in the labyrinth capsule, especially in front of and posterior to the footplate of the stapes, resulting in conductive hearing impairment. Cochlear otosclerosis may also develop, resulting in sensorineural hearing loss. OTSC11 is an autosomal dominant form characterized by onset of progressive deafness in the second to third decade of life. Deafness ranges from moderate to severe, and may be conductive, sensorineural, or mixed.
Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development
Secreted, extracellular space, extracellular matrix, basement membrane
Bifid nose, with or without anorectal and renal anomalies
A disease characterized by the presence of a bifid nose usually associated with renal agenesis and anorectal malformations. A bifid nose is a congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation.
Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential)
Nucleus
Aural atresia, congenital
A rare anomaly of the ear that involves some degree of failure of the development of the external auditory canal. The malformation can also involve the tympanic membrane, ossicles and middle ear space. The inner ear development is most often normal. Different CAA forms are known. CAA type I is characterized by bony or fibrous atresia of the lateral part of the external auditory canal and an almost normal medial part and middle ear. CAA type II is the most frequent type and is characterized by partial or total aplasia of the external auditory canal. CAA type IIA involves an external auditory canal with either complete bony atresia of the medial part or partial aplasia that ends blindly in a fistula leading to a rudimentary tympanic membrane. CAA type IIB is characterized by bony stenosis of the total length of the external auditory canal. CAA type III involves bony atresia of the external auditory canal and a very small or absent middle-ear cavity.
May play a role in regulation of a variety of G-protein coupled receptors
Deafness, X-linked, 7
A congenital form of bilateral mixed or conductive hearing loss, which is progressive in some patients. Additional clinical features include ear anomalies and facial dysmorphism with bilateral ptosis.
Subunit of the replication factor C (RFC) complex which acts during elongation of primed DNA templates by DNA polymerases delta and epsilon, and is necessary for ATP-dependent loading of proliferating cell nuclear antigen (PCNA) onto primed DNA (PubMed:9488738). This subunit binds to the primer-template junction. Binds the PO-B transcription element as well as other GA rich DNA sequences. Can bind single- or double-stranded DNA
Nucleus
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
An autosomal recessive neurologic disease characterized by imbalance, cerebellar ataxia, impaired vestibular function, and non-length-dependent sensory deficit.
Membrane
Lacrimal duct defect
A condition resulting in the imbalance between tear production and tear drainage. Infants typically manifest persistent epiphora and/or recurrent infections of the lacrimal pathway, such as conjunctivitis. LCDD is caused by failure of the nasolacrimal duct to open into the inferior meatus.
ATPase involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:15075294, PubMed:29374058, PubMed:30339381, PubMed:32459350). Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter ac
Nucleus
Rhabdoid tumor predisposition syndrome 2
A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood.
Regulates chordin (CHRD). May play a role in spatial programing within discrete embryonic fields or lineage compartments during organogenesis. In concert with NKX3-2, plays a role in defining the structural components of the middle ear; required for the development of the entire tympanic ring (By similarity). Probably involved in the regulatory networks that define neural crest cell fate specification and determine mesoderm cell lineages in mammals
Nucleus
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities
An autosomal recessive developmental disorder with features of a first and second branchial arch syndrome, and with unique rhizomelic skeletal anomalies. Craniofacial abnormalities can lead to conductive hearing loss, respiratory insufficiency, and feeding difficulties. Skeletal features include bilateral humeral hypoplasia, humeroscapular synostosis, pelvic abnormalities, and proximal defects of the femora. Affected individuals may also have some features of a neurocristopathy or abnormal mesoderm development, such as urogenital anomalies, that are distinct from other branchial arch syndromes.
Variantes genéticas (ClinVar)
634 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
32 vias biológicas associadas aos genes desta condição.
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 otorrinolaringológica genética
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
Ensaios em destaque
🟢 Recrutando agora
4 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
0 ensaios clínicos encontrados.
Publicações mais relevantes
[Mendelian Randomization Analysis of Potential Molecular Targets for Type 2 Airway Inflammatory Diseases].
Este estudo identificou proteínas plasmáticas que influenciam o risco de doenças inflamatórias das vias aéreas tipo 2, como rinite alérgica, asma e pólipos nasais. Notavelmente, a proteína ERBB3 foi associada a um risco reduzido para as três condições, indicando seu potencial como fator protetor e biomarcador compartilhado. Isso abre portas para o desenvolvimento de novas estratégias diagnósticas e terapêuticas para esses pacientes.
🇧🇷 traduzidoA Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.
Este artigo apresenta o caso de uma menina com características clínicas da Síndrome de Kabuki Tipo 1, incluindo fenótipo facial específico e perda auditiva condutiva, confirmado por análises genéticas. O dilema diagnóstico surgiu pela presença de variantes no gene CFTR, geralmente associadas à Fibrose Cística, o que levantou a suspeita inicial dessa doença. No entanto, a avaliação funcional do CFTR demonstrou que sua função estava preservada e uma irmã da paciente com o mesmo genótipo CFTR era clinicamente saudável, descartando assim o diagnóstico de Fibrose Cística e focando o tratamento nas manifestações da Síndrome de Kabuki.
🇧🇷 traduzidoPrenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
Este artigo destaca a importância do diagnóstico molecular pré-natal da Síndrome de Stickler, uma doença genética do tecido conjuntivo causada principalmente por variantes no gene COL2A1. Em um caso de suspeita de anomalia craniofacial fetal, o sequenciamento genético confirmou uma variante patogênica herdada da mãe, correlacionando-a com o fenótipo observado (micrognatia e Síndrome de Pierre Robin). Para médicos e pacientes, essa confirmação genética precoce é crucial, pois elucida o quadro clínico, facilita um manejo perinatal multidisciplinar e permite um aconselhamento familiar direcionado. O estudo enfatiza o valor inestimável dos diagnósticos moleculares para doenças monogênicas raras, mesmo em cenários de recursos limitados, e a necessidade de integrá-los à rotina de cuidados pré-natais.
🇧🇷 traduzidoMulti-center investigation on the influence of clinical characteristics and molecular group A streptococci diagnostics on the management of tonsillopharyngitis in pediatric practices in Berlin-BASE study.
Este estudo investigou se o uso de testes moleculares rápidos (mPOC) para diagnosticar amigdalofaringite em crianças reduziria a prescrição de antibióticos, já que diferenciar infecções virais de bacterianas é um desafio clínico. Contrário às expectativas, a introdução do teste molecular rápido não diminuiu as taxas de prescrição de antibióticos, que permaneceram altas (cerca de dois terços das crianças receberam). Isso indica a necessidade de maiores esforços na gestão diagnóstica e no uso consciente de antibióticos para otimizar o tratamento e evitar excessos.
🇧🇷 traduzidoSuperenhancer-mediated ferroptosis in age-related hearing loss: cochlear epigenomics.
Este estudo revelou que a perda auditiva relacionada à idade (ARHL) é impulsionada pela redução da proteína Sp1, que regula o gene Fth1, levando a um acúmulo de ferro e à morte celular (ferroptose) nas células ciliadas da cóclea, promovendo o envelhecimento auditivo. Para pacientes e médicos, essas descobertas abrem caminho para novas estratégias terapêuticas promissoras, como a manipulação genética de superintensificadores ou a inibição da ferroptose, incluindo a terapia gênica para modular o metabolismo do ferro e preservar a audição em populações idosas.
🇧🇷 traduzidoPublicações recentes
Macrophage-derived CXCL8 as a mediator of inflammatory attacks in Meniere's disease.
The MYBL2-GTSE1 axis promotes laryngeal squamous cell carcinoma progression by regulating PI3K/AKT-dependent glycolytic reprogramming.
Development of Glioblastoma Multiforme in Patients With Human Papillomavirus-Positive Oropharyngeal Squamous Cell Carcinoma: A Case Series.
Microbiota in Chronic Suppurative Otitis media: association with Postoperative Tympanic membrane outcomes.
Meckel-Gruber syndrome: a rare and fatal congenital disorder (case report).
📚 EuropePMCmostrando 200
Macrophage-derived CXCL8 as a mediator of inflammatory attacks in Meniere's disease.
Frontiers in immunologyThe MYBL2-GTSE1 axis promotes laryngeal squamous cell carcinoma progression by regulating PI3K/AKT-dependent glycolytic reprogramming.
Cancer biology & therapyDevelopment of Glioblastoma Multiforme in Patients With Human Papillomavirus-Positive Oropharyngeal Squamous Cell Carcinoma: A Case Series.
Cancer reports (Hoboken, N.J.)Microbiota in Chronic Suppurative Otitis media: association with Postoperative Tympanic membrane outcomes.
Applied microbiology and biotechnologyMeckel-Gruber syndrome: a rare and fatal congenital disorder (case report).
The Pan African medical journalCOX5A induces M2 macrophage polarization in chronic rhinosinusitis with nasal polyps through ROS generation.
Inflammation research : official journal of the European Histamine Research Society ... [et al.]["Yingxiang" (LI2) acupoint injection alleviates nasal allergy symptoms in allergic rhinitis rats by regulating Treg/Th17 immune balance].
Zhen ci yan jiu = Acupuncture research[Mendelian Randomization Analysis of Potential Molecular Targets for Type 2 Airway Inflammatory Diseases].
Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science editionA novel KDM6A c.2429dup mutation causing kabuki syndrome type 2 identified in a fetus with increased nuchal translucency.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal ObstetriciansA Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.
International journal of molecular sciencesPrenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
International journal of molecular sciencesSinonasal Nonkeratinizing Squamous Cell Carcinoma with Synchronous Presence of HPV-High Risk and MKRN1::BRAF Fusion.
Head and neck pathologyLaryngeal ALK Positive Histiocytosis: Potential Mimic of Inflammatory Myofibroblastic Tumor-Case Report and Literature Review.
Head and neck pathologyHigh frequency of mosaic NF2-related schwannomatosis diagnosed after somatic analysis of multi-nodular schwannomas in schwannomatosis patients.
Human geneticsHELLS inhibits autophagy‑dependent ferroptosis in nasopharyngeal carcinoma by modulating the Nrf2/HO‑1/GPX4 pathway.
International journal of molecular medicineParental experience of whole genome sequencing for children with sensorineural hearing loss.
International journal of qualitative studies on health and well-beingType 4 Woolly Hair-palmoplantar Keratoderma Syndrome with a Novel Phenotype.
The Journal of the Association of Physicians of IndiaToripalimab-based chemoimmunotherapy for unresectable sinonasal NUT carcinoma of the maxillary sinus: a case report.
Frontiers in immunologyUncovering Type 2 inflammatory profiles in severe eosinophilic asthma with nasal polyps: the role of transcript-protein ratios and Staphylococcus aureus enterotoxin B-specific IgE.
Allergologia et immunopathologia[Identification and functional analysis of a novel variant of CHD23 gene in a Chinese pedigree affected with Non-syndromic autosomal recessive deafness 12].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics[Beware of hearing loss in children].
Nederlands tijdschrift voor geneeskundeNovel ANKRD11 Mutation in KBG Syndrome: A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping.
Sultan Qaboos University medical journalMulti-center investigation on the influence of clinical characteristics and molecular group A streptococci diagnostics on the management of tonsillopharyngitis in pediatric practices in Berlin-BASE study.
European journal of pediatricsmiR-449a: A Novel Biomarker for Diagnosis, Prognosis, and Treatment Response in Locally Advanced Laryngeal Squamous Cell Carcinoma.
Oncology researchSuperenhancer-mediated ferroptosis in age-related hearing loss: cochlear epigenomics.
Cellular and molecular life sciences : CMLSThe causality between dietary intake and allergic diseases: A two-sample Mendelian randomization analysis.
MedicineIntegrated multi-omics profiling to dissect the development of second primary lung cancer in laryngeal cancer: An observational study.
Medicine[HPV-related oropharyngeal cancers: main characteristics and new virological tools].
Virologie (Montrouge, France)Integration of ear and hearing care services in low- and middle-income health systems: a systematic review and qualitative synthesis.
Global health actionMolecular Etiology and Clinical Significance of Discordant Human Papillomavirus Testing in p16+ Oropharyngeal Cancers.
JCO precision oncologySalt-Inducible Kinase as a Predictive Biomarker in Laryngeal Squamous Cell Carcinoma: Insights into Treatment Efficacy and Patient Survival.
Nigerian journal of clinical practicePatient-derived TWNK variants recapitulate multisystem Perrault syndrome pathology in a mouse model.
Mitochondrion[Hearing impairment in children with cystic fibrosis].
Vestnik otorinolaringologiiGeneration of the induced pluripotent stem cell line BTHBIOi002-A derived from a USH2 patient with c.2512C>T and c.2802T>G mutations in USH2A gene.
Stem cell researchBilateral Cochlear Implantation in a Child With Galloway-Mowat Syndrome: A Case Report.
The American journal of case reportsDelayed diagnosis of Waardenburg syndrome type 1 in a Syrian adult: Challenges and lessons from resource-limited settings, a case report and literature review.
Science progressAutophagy in Sensorineural Hearing Loss: Jekyll or Hyde?
International journal of molecular sciencesTissue IL-6/LIF/LIFR and CXCL9 Expression Correlates with High-Risk NBI Patterns and Squamous Cell Carcinoma in Vocal Fold Lesions.
International journal of molecular sciencesCandidate Key Proteins in Thalamo-Amygdala Signaling in Tinnitus: A Bioinformatics Study.
International journal of molecular sciencesInflammation and Oxidative-Stress Pathways Are Associated with Idiopathic Sudden Hearing Loss: A Genome-Wide Association Study in 15,494 Japanese Individuals.
International journal of molecular sciencesNonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial Cells.
International journal of molecular sciencesThe Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.
GenesExtracellular Vesicles: A Multidimensional Role in the Occurrence and Development of Nasopharyngeal Carcinoma.
BiomoleculesNasopharyngeal Carcinoma at the Virology Precision Oncology Nexus: Decoding Molecular Alterations for Early Intervention and Therapeutic Innovation.
BiomoleculesMultisession epidural direct current stimulation of the auditory cortex mitigates age-related transcriptomic dysregulation in Wistar rats.
Hearing researchAbnormal Hearing Phenotypes in "Ignorome" Knockout Mice as Predictors of Cognitive Dysfunction.
Genes, brain, and behaviorEngineered Exosomes: Advances in Therapeutic Applications for Otolaryngology-Head and Neck Diseases.
International journal of nanomedicineHow Effective are Exosomes in Overcoming Blood-Labyrinth Barrier in Sensorineural Hearing Loss? A Comprehensive Review of the Literature.
International journal of nanomedicineThe ubiquitin-proteasome system is an important driver of EBV-associated nasopharyngeal carcinoma progression: a meta-analysis of transcriptomic data.
Scientific reportsIntegrative computational and experimental analysis identifies MEK-mediated carcinogenic effects of bisphenol A and diethyl phthalate in head and neck cancer.
Ecotoxicology and environmental safetyMultidimensional analysis of screening results of deafness susceptibility genes in 3066 newborns of different altitudes and nationalities in Xining, Qinghai(ISRCTN89197487).
PloS oneRare Sinonasal Case of IRF4-Rearranged Large B-Cell Lymphoma Mimicking Chronic Sinusitis.
Journal of investigative medicine high impact case reportsGenetic mutations in recurrent and/or metastatic nasal carcinoma: A pathological comparison based on the Japanese national genomic profiling database.
Otolaryngologia polska = The Polish otolaryngologyEstablishment and characterization of a novel sinonasal adenosquamous carcinoma cell line, TC717, with a high tumor mutational burden.
Human cellFrom Sound to Stability: Lessons Learned From the CRUSH Study on Hearing Loss Progression and Vestibular Phenotype in Usher Syndrome Type 2A.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyErythropoietin alleviates syndrome-associated intellectual disability and autism-like behavior in Zbtb20-haploinsufficient Primrose syndrome mouse model.
JCI insightNovel Mutations in KCNJ10 Gene Associated With SeSAME Syndrome: Rare Disorder With Possible Common Mutation.
Molecular genetics & genomic medicineAdeno-associated viral vector administration to the inner ear and phenotype evaluation in a mouse model of hearing loss.
Methods in cell biologyA Case Report of Thrombocytopenia Caused by a May-Hegglin Anomaly in a Young Saudi Female.
Journal of investigative medicine high impact case reportsTherapeutic potential of Cuscutae Semen and Rehmanniae Radix Preparata in age-related central hearing loss associated with Gad1 regulation.
Journal of ethnopharmacologyA Meier-Gorlin syndrome mutation impairs the loading of the MCM2-7 complex during DNA replication initiation.
Proceedings of the National Academy of Sciences of the United States of AmericaComprehensive in silico analysis of genetic landscape and pathways involved in Stickler syndrome.
PloS oneEarly-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant.
The American journal of case reportsMETTL14 modulates the nasopharyngeal carcinoma microenvironment via m6A-modified YWHAH identified through single-cell and machine learning analyses.
Frontiers in immunologyReview of the literature on new histologic entities in sinonasal cancer.
European annals of otorhinolaryngology, head and neck diseasesWhole blood gene expression to assess disease severity of omicron-associated acute encephalitis and croup in children: A transcriptomic and immune profiling study.
Journal of infection and public healthRNA sequencing-based evaluation of the mechanisms underlying the liensinine-mediated inhibition of hypopharyngeal cancer proliferation.
The Journal of international medical researchXKR8 Deletion Protects Against Noise-Induced Hearing Loss by Attenuating Apoptosis and Preserving Mitochondrial Bioenergetics in the Cochlea.
Molecular neurobiologyColchicine prophylaxis efficacy in PFAPA syndrome: A comparative cohort study.
Seminars in arthritis and rheumatismOculomotor abnormalities in patients with cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) reflect midline cerebellar impairment.
Journal of neurologyPressure-induced ossicular alterations in the oim mouse model of brittle bone disease do not cause hearing loss.
Hearing researchTranscriptional Reprogramming of Staphylococcus aureus in Chronic Rhinosinusitis Reveals a Persistence-Associated Phenotype.
International journal of molecular sciencesAssociation of Single-Nucleotide Polymorphisms in Sweet Taste Perception and Intake Genes with Primary Ciliary Dyskinesia and Its Clinical Phenotypes.
International journal of molecular sciencesRole of Periostin in the Development of Nasal Hyperresponsiveness in Mice with Allergic Rhinitis.
International journal of molecular sciencesTRPM2 Channel Involvement in the Hesperidin-Mediated Potentiation of Cisplatin's Antitumor Action in Laryngeal Carcinoma Cells.
International journal of molecular sciences[Research progress in diagnostic methods for motile ciliopathies of multiciliated cells].
Zhonghua er ke za zhi = Chinese journal of pediatrics[A case of female CYBB gene variant carrier with early severe infections due to skewed X-chromosome inactivation].
Zhonghua er ke za zhi = Chinese journal of pediatrics[Analysis of clinical diagnosis, treatment, and pathogenic variants of hypoparathyroidism- sensorineural deafness-renal dysplasia (HDR) syndrome].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgeryNKG2D upregulation sensitizes tumors to combined anti-PD1 and anti-VEGF therapy and prevents hearing loss.
Nature communicationsIntegrating environmental factors and genetic variants in machine learning to assess occupational noise impact on health.
Ecotoxicology and environmental safetyConditional Deletion of Isl1 Disrupts Cochlear Sensory and Neuronal Development, Leading to Hearing Loss.
Molecular neurobiology[Elucidating the gene-environment interplay in risk factors for Age-related hearing loss].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery[An interpretation of the blue book: the report on hearing health in china (2025)].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgeryNFKB1 genetic variation and allergic rhinitis susceptibility: a study in the Chinese Han population.
Scientific reportsCD38 degrades MAVS through mitophagy to inhibit type I interferon secretion in nasopharyngeal carcinoma cells and impairs CD8+T cell-mediated anti-tumor immunity.
Nature communicationsSensory-Cell Population Integrity Required to Preserve Minimal and Normal Vestibulo-ocular Reflexes Reveals the Critical Role of Type I Hair Cells in Canal- and Otolith-Specific Functions.
eNeuroGut mycobiota dysbiosis and an emergent state of "co-dysbiosis" are associated with IgE sensitization in children with comorbid allergic rhinitis and constipation.
Frontiers in immunologyThe antioxidant capacity and in-vitro anticancer effects of Artocarpus lakoocha Roxb. against laryngeal cancer cells.
Scientific reportsIntegrating transcriptomics and metabolomics to explore the therapeutic effects and mechanisms of Zhushagen-Shandougen herb pair on chronic pharyngitis.
Journal of ethnopharmacologyDifferences in hearing across the lifespan in two strains of Alzheimer's mouse models as measured using behavioral and physiological techniques.
Hearing researchGenetically predicted plasma metabolites mediate the relation between inflammatory factors and Meniere's disease.
Brazilian journal of otorhinolaryngologyQuantitative proteomics analysis to identify biomarkers of refractory benign paroxysmal positional vertigo.
Brazilian journal of otorhinolaryngologyComprehensive next generation sequencing of middle ear neuroendocrine tumors.
Annals of diagnostic pathologyA Qualitative Study of Yiddish-Speaking Hasidic Mothers' Experiences Parenting Deaf and Hard of Hearing Children.
Journal of speech, language, and hearing research : JSLHR[Analysis of DNAH11 gene variants and clinical characteristics of a Chinese pedigree affected with Primary ciliary dyskinesia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsGenetic associations of LXN polymorphisms with toxicities of platinum-based concurrent chemoradiotherapy of nasopharyngeal carcinoma.
Supportive care in cancer : official journal of the Multinational Association of Supportive Care in CancerTwo-step voltage-sensor activation of the human KV7.4 channel and effect of a deafness-associated mutation.
Nature communicationsA porcine congenital deafness model with unconditional knockout of GJB2 generated by CRISPR/Cas9 genomic editing.
Hearing researchSpinocerebellar Ataxia Type 35 Presenting with Dysphagia in a Patient from Saudi Arabia: A Case Report and Literature Review.
Cerebellum (London, England)FOLR1 Mediated by ITCH Promotes Paclitaxel Resistance by Suppressing Pyroptosis in Nasopharyngeal Carcinoma.
Archiv der PharmazieUSP18 orchestrates malignant progression in nasopharyngeal carcinoma through UBR5-driven attenuation of p53 signaling.
International immunopharmacologyFluoxetine minimally affects hearing loss but induces gene expression changes in the cochlear nuclei after noise exposure.
PloS oneAnalysis of Plasma Epstein-Barr Virus DNA and Clinical Outcomes to Pembrolizumab or Chemotherapy in Recurrent/Metastatic Nasopharyngeal Cancer in KEYNOTE-122.
Cancer medicineGenetically predicted cerebrospinal fluid metabolite levels and risk of sudden sensorineural hearing loss: A Mendelian randomization study.
MedicinePeripheral blood eosinophils increase the risk on the occurrence of acute rhinosinusitis and transition to chronic rhinosinusitis: A Mendelian randomization study.
MedicineHereditary hemorrhagic telangiectasia patient with pulmonary arteriovenous malformation: A case report.
Medicine[Expert consensus on diagnosis and treatment of adult primary ciliary dyskinesia (2025 edition)].
Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseasesX-Ray Repair Cross-Complementing Group 1 Genetic Polymorphisms and the Risk of Sudden Sensorineural Hearing Loss.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology[Research advance on the clinical phenotypes and molecular genetic mechanisms of Microcephalic primordial dwarfism].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsH1FX as a novel biomarker linking pan-apoptosis to immune dysregulation in allergic rhinitis.
European journal of medical researchLinking misophonia and tinnitus: Common and divergent neurobiological mechanisms.
Neuroscience and biobehavioral reviewsInhibition of focal adhesion kinase impairs tumor formation and preserves hearing in a murine model of NF2-related schwannomatosis.
Science advancesIntegrative causal inference and predictive modeling reveal the iron-related gene SLC17A4 as a key biomarker in chronic rhinosinusitis.
Frontiers in immunologyDe Novo MYH9-Related Macrothrombocytopenia in a Toddler: Insights From Platelet Mass Index.
British journal of hospital medicine (London, England : 2005)The Immunogenetic Landscape of Allergic Rhinitis: from Cellular Effectors to Gene Regulation and Targeted Therapies.
International journal of biological sciencesAkt/mTOR pathway-mediated CCNA1 regulation of radiotherapy resistance in nasopharyngeal carcinoma.
Cellular oncology (Dordrecht, Netherlands)Role of Epigenetics in the Pathogenesis of Acquired Cholesteatoma-A State of the Art Review.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck SurgeryGenome-wide investigation highlights global and local pleiotropy linking neurodevelopmental disorders to acquired hearing problems.
Psychological medicineInverted Sinonasal Papilloma: Pheno-endotyping and Predictive Markers of Recurrence and Malignancy - A Systematic Review.
Current allergy and asthma reportsDominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss.
American journal of human geneticsA Rare Clown Nose Manifestation of Metastatic Eccrine Porocarcinoma: Case Study and Review of the Literature.
The American Journal of dermatopathologyPulled-in-two syndrome in a young woman with restrictive strabismus and rare genetic mutation.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusTranscriptomic Profiling Reveals Divergent Immune Responses to AAV1 and AAV-ie in Mice Inner Ear.
International journal of medical sciencesPbx1 overexpression delays cochlear hair cells degeneration in an accelerated aging mouse model.
Hearing researchWhole-Exome Profiling of Epstein-Barr Virus-Positive Neuroendocrine Carcinoma of the Nasopharynx.
Endocrine pathologyIdentification and phased de novo mutation of the EPS8L2 gene in a patient with progressive hearing loss: A case report.
MedicineBeyond epistaxis: cascade screening and presymptomatic treatment of hereditary hemorrhagic telangiectasia.
BMC pediatricsNoise exposure induces autophagy-modulated nuclear-to-cytoplasmic translocation of TDP-43 in spiral ganglion neurons.
Hearing researchPharmacological chaperones mitigate noise-induced hearing loss by attenuating sustained PERK activation.
Proceedings of the National Academy of Sciences of the United States of AmericaGut microbiota-based prediction of clinical response to sublingual immunotherapy in Artemisia pollen-induced allergic rhinitis: A prospective cohort study.
Acta microbiologica et immunologica HungaricaCollaborative breakthroughs in precision diagnosis and treatment of nasopharyngeal cancer: Biomarker‑driven screening and endoscopic minimally invasive surgery reshape the new paradigm of early intervention (Review).
Oncology reportsThe mTOR Pathway in Hearing Disorders: Mechanistic Links to Aging, Regeneration, and Neurodegeneration.
Molecular neurobiologyClinical characteristics and severity of primary ciliary dyskinesia caused by large homozygous deletion including exons 1-4 of DRC1: A multicenter retrospective cohort study.
Respiratory investigationChronic salicylate administration induces transcriptomic and metabolomic remodeling in the rat cochlear nucleus and hippocampus.
Hearing researchUpregulation of Gfi1 induced by LSD1 inhibitor protects against cisplatin-induced ototoxicity through attenuating pyroptosis.
Experimental cell researchGenetic screening for hearing impairment and the genotype-phenotype correlation of GJB2 c.109G>A variants in 47,729 neonates: a population-based study in southern China.
International journal of pediatric otorhinolaryngologyMAP3K19 promotes the progression of hypopharyngeal cancer by suppressing dendritic cell maturation through mediating NF-κB activation and PD-L1 expression.
International immunopharmacologyPrevalence of vestibulo-ocular reflex dysfunction in people with neurological disorders: a systematic review and meta-analysis.
Journal of neurologyEvaluating Cochlear Implantation Outcomes in Charcot-Marie-Tooth Disease: A Case Series Analysis of Genetic Profiles and Intervention Timing.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyAnalysis of a Novel Mouse Mutation of the Deafness Gene Pejvakin.
Genesis (New York, N.Y. : 2000)Hearing loss in the young-old is associated with increased risk for Alzheimer's disease and vascular dementia.
Journal of Alzheimer's disease : JADFive-year comparison of magnetic resonance imaging and endoscopy for nasopharyngeal carcinoma detection among high-risk populations undergoing screening.
CancerMolecular heterogeneity of the non-human primate cochlea.
Nature communicationsCell-type-specific reorganization of VGSCs in auditory cortex and therapeutic potential of Nav1.6 blockade for tinnitus.
Brain research bulletinIdentification of hub genes and construction of a survival prediction model for patients with nasopharyngeal carcinoma.
Scientific reportsMolecular markers of pediatric cholesteatoma: A gene expression comparison with adult tissue.
International journal of pediatric otorhinolaryngologyFermented and non-fermented pickles modulate gut microbiota in older adults with dysphagia: A pilot crossover study.
Clinical nutrition ESPENBrusatol enhances ferroptosis susceptibility in nasopharyngeal carcinoma by downregulating Nrf2 expression.
European journal of pharmacologyGeneration of induced pluripotent stem cells from a patient with CHARGE syndrome with athymia, harboring a heterozygous mutation in CHD7.
Stem cell researchRasd2 Knockout Exaggerates the Hearing Loss Phenotype of Tsc1-Deficient Mice.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyThe association between DNA repair genes polymorphisms and cisplatin-induced ototoxicity in cancer patients: a systematic review.
Personalized medicineTargeting EME1 Increases the Sensitivity of Camptothecin in Nasopharyngeal Carcinoma Cells.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyExploring extracellular vesicle MicroRNAs in Usher syndrome type 1B: Tear-Derived EVs as potential indicators of retinal health.
Cellular and molecular life sciences : CMLSA novel CLPP variant in a Pakistani family with Perrault syndrome associated with recurrent fevers.
Clinica chimica acta; international journal of clinical chemistryAberrant Hippo-YAP/TEAD Signaling Drives Malignant Transcriptional Reprogramming in External Auditory Canal Squamous Cell Carcinoma.
Cancer research communicationsCo-targeting MRPS7-23 synergistically enhances cisplatin efficacy to suppress nasopharyngeal carcinoma growth and metastasis.
International journal of biological sciences[Hearing phenotype and genotypic characteristics in GSDME-related deafness pedigrees].
Zhonghua yi xue za zhiDLX5 regulates nasal Epithelial Mesenchymal Transition and inflammation in EosCRSwNPs via the COL1A1-mediated Wnt/β-catenin Signaling.
International immunopharmacologyInvestigating the mechanisms of ageing and neuroinflammation in age-related hearing loss: A proteomic analysis.
Hearing researchCircCramp1l targets the miR-532-3p/HMGB1/Drp1 axis to regulate allergic rhinitis.
Biochemical pharmacologyCRISPR-Cas9-Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel-Gruber Syndrome Phenotype.
Genesis (New York, N.Y. : 2000)Early diagnosis of Lemierre syndrome using targeted next-generation sequencing combined with metagenomics capture: A case report and literature review.
MedicineGJB2-Related Hearing Loss: Genotype-Phenotype Correlations, Natural History, and Emerging Therapeutic Strategies.
International journal of molecular sciencesHuman Papillomavirus: Possible Mechanisms of Damage in Sinonasal Inverted Papilloma.
International journal of molecular sciencesExpansion of Molecular and Clinical Aspects of EPS8L2 (DFNB106)-Associated Hearing Loss Emphasizes a Potential Therapeutic Window.
Molecular neurobiologyPRMT5 upregulates KCNMB4 expression via histone methylation to promote paclitaxel resistance in advanced nasopharyngeal carcinoma.
Cell death & diseaseGeneration of induced pluripotent stem cell line IRDWCHi001-A from a patient with hearing loss and nystagmus carrying the heterozygous TBX2 c.977delA (p.D326Afs*42) mutation.
Stem cell researchMechanisms of cellular senescence combined with molecular docking strategies: A biomarker study of potential therapeutic targets for allergic rhinitis.
PloS oneA Novel Intronic Variant Causes Aberrant Splicing of PCDH15 in a Family With Usher Syndrome Type 1F.
Molecular genetics & genomic medicineIdentification of a Novel Likely Pathogenic Variant of DIAPH3 Associated With New Phenotype of Sensorineural Hearing Loss.
Molecular genetics & genomic medicineTargeted demethylation of the BRD7 promoter based on CRISPR/dCas9 system inhibits the malignant progression of nasopharyngeal carcinoma.
Clinical and translational medicine[Rationality of formula composition of ammonium glycyrrhizinate in Yanlishuang Oral Dripping Pills based on pharmacodynamics and pharmacokinetics].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica[Mechanism of emodin in influencing proliferation and migration of nasopharyngeal carcinoma cells by regulating autophagy].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medicaDiagnostic accuracy of combinatorial mRNA biomarkers for non-invasive detection and therapy monitoring of oral and oropharyngeal SCC.
British journal of cancerHuman otoacariasis by Amblyomma testudinarium identified with 16S rRNA gene sequencing.
Auris, nasus, larynxAssociation of triglyceride and cholesterol with vestibular vertigo: Evidence from univariable and multivariable mendelian randomization and mediation analysis.
Brazilian journal of otorhinolaryngologyEvaluation of Anti-BNLF2b Antibody and Epstein-Barr Virus Biomarkers for the Diagnosis of Nasopharyngeal Carcinoma: A Retrospective Study.
Technology in cancer research & treatmentDystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum.
NeurogeneticsA Case Report of Primitive Myxoid Mesenchymal Tumor of Infancy (PMMTI) with BCOR-ITD Genetic Alteration in the Sinonasal Cavity and Review of Literature.
Head and neck pathologyMolecular and genetic insights into vestibular schwannoma.
Journal of neuro-oncologyThe Emergence of Drug Resistance in Extrapulmonary Tuberculosis: A Case Series.
Acta medica IndonesianaA seven-gene 5-hydroxymethylcytosine signature in circulating cell-free DNA for prognostic stratification of nasopharyngeal carcinoma.
Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and OncologyDelayed diagnosis of Townes-Brocks syndrome accompanied with kidney failure.
CEN case reportsNOP2 Promotes Glycolysis and Tumor Development in Larynx Cancer by Stabilizing TPI1 mRNA Through N5-Methylcytosine Modification.
Molecular carcinogenesisRapid bactericidal and anti-virulence effects of Quercus infectoria gall extract against the pharyngitis causing pathogen Streptococcus pyogenes.
Journal of ethnopharmacologyA novel pathogenic mutation in TSPEAR associated with sensorineural hearing loss: a case report and review of the literature.
Journal of medical case reportsEstablishment of novel stable human sinonasal NUT carcinoma cell lines.
Oral oncology[Clinical characteristics and genetic spectrum of adults with primary ciliary dyskinesia].
Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseasesCaste-based genetic diagnosis: evidence from a pathogenic SLC26A4 variant implicated in hereditary hearing loss.
Journal of tropical pediatricsNewborn hearing screening to diagnosis: A clinical study of 15,818 cases.
International journal of pediatric otorhinolaryngologyRandomized clinical trial of post-operative outcomes following posterior versus anterior tympanostomy tube placement: preliminary results at 2-12 week follow-up.
International journal of pediatric otorhinolaryngologyCorrelation of EZH2 expression and response to chemoradiation in patients with locally advanced inoperable oral cavity and oropharyngeal squamous cell cancers.
Journal of cancer research and therapeuticsEvaluation of a fully automated "sample-to-result" PCR-based diagnostic test for detecting A/C/G Streptococci from throat swab specimens.
Microbiology spectrumApproach to the Patient: Mitochondrial Diabetes: Contemporary Cases and a Precision Medicine Approach.
The Journal of clinical endocrinology and metabolismDACT1 inhibits cuproptosis and promotes cell malignancy via activation of PI3K/AKT signaling in laryngeal squamous cell carcinoma.
European journal of medical researchA multiomic framework for predicting laryngo-esophageal dysfunction following induction chemotherapy in hypopharyngeal-laryngeal carcinoma.
ESMO openSpatial Transcriptomics Unveils Landscape of Resistance to Concurrent Chemo-Radiotherapy in Hypopharyngeal Squamous Cell Carcinoma: The Role of SPP1+ Macrophages.
Cancer medicineAdipose-Derived Stem Cell Secretome Attenuates Eosinophilic Inflammation in a Chronic Rhinosinusitis with Nasal Polyps Mouse Model.
International journal of molecular sciencesBacterial Profile, Molecular Serotyping, and Key Genetic Determinants for Adhesion, Immune Evasion, and Tissue Spread Among Bulgarian Children with Acute Otitis Media.
GenesNovel hypoxia-immune biomarkers predict response to neoadjuvant chemotherapy in patients with laryngo-hypopharyngeal cancer.
European journal of medical researchAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Doença otorrinolaringológica genética.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Doença otorrinolaringológica genética
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
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.
- [Mendelian Randomization Analysis of Potential Molecular Targets for Type 2 Airway Inflammatory Diseases].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition· 2026· PMID 41834957mais citado
- A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.
- Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
- Multi-center investigation on the influence of clinical characteristics and molecular group A streptococci diagnostics on the management of tonsillopharyngitis in pediatric practices in Berlin-BASE study.
- Superenhancer-mediated ferroptosis in age-related hearing loss: cochlear epigenomics.
- Macrophage-derived CXCL8 as a mediator of inflammatory attacks in Meniere's disease.
- The MYBL2-GTSE1 axis promotes laryngeal squamous cell carcinoma progression by regulating PI3K/AKT-dependent glycolytic reprogramming.
- Development of Glioblastoma Multiforme in Patients With Human Papillomavirus-Positive Oropharyngeal Squamous Cell Carcinoma: A Case Series.
- Microbiota in Chronic Suppurative Otitis media: association with Postoperative Tympanic membrane outcomes.
- Meckel-Gruber syndrome: a rare and fatal congenital disorder (case report).
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:466084(Orphanet)
- MONDO:0018751(MONDO)
- GARD:21935(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55788308(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
