Raras
Buscar doenças, sintomas, genes...
Doença otorrinolaringológica genética
ORPHA:466084DOENÇA RARA

Uma doença que afeta o ouvido, nariz e garganta, causada por uma alteração no DNA da pessoa.

Mantido por Agente Raras·Colaborar como especialista →

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.

🏥
SUS: Sem cobertura SUSScore: 0%
Você se identifica com essa condição?
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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

👂
Ouvidos
17 sintomas
🧠
Neurológico
15 sintomas
😀
Face
13 sintomas
🫁
Pulmão
11 sintomas
👁️
Olhos
9 sintomas
🦴
Ossos e articulações
7 sintomas

+ 57 sintomas em outras categorias

Características mais comuns

Rizomelia
Dispneia
Morfologia anormal do cílio móvel respiratório
Infecções recorrentes do trato respiratório superior
Rinite crônica
Bronquiectasia
141sintomas
Sem dados (141)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 141 características clínicas mais associadas, ordenadas por frequência.

RizomeliaRhizomelia
DispneiaDyspnea
Morfologia anormal do cílio móvel respiratórioAbnormal respiratory motile cilium morphology
Infecções recorrentes do trato respiratório superiorRecurrent upper respiratory tract infections
Rinite crônicaChronic rhinitis

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1
Últimos 10 anos200publicações
Pico2026184 papers
Linha do tempo
2025Hoje · 2026🧪 1992Primeiro ensaio clínico
Publicações por ano (últimos 10 anos)

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.

POU3F4POU domain, class 3, transcription factor 4Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Nucleus

MECANISMO DE DOENÇA

Deafness, X-linked, 2

A form of deafness characterized by both conductive hearing loss resulting from stapes (perilymphatic gusher) fixation, and progressive sensorineural deafness.

EXPRESSÃO TECIDUAL(Tecido-específico)
Brain Nucleus accumbens basal ganglia
28.9 TPM
Brain Caudate basal ganglia
17.4 TPM
Brain Putamen basal ganglia
10.9 TPM
Cerebelo
3.8 TPM
Brain Anterior cingulate cortex BA24
3.2 TPM
INTERAÇÕES PROTEICAS (2)
OUTRAS DOENÇAS (3)
X-linked mixed hearing loss with perilymphatic gusherchoroideremia-deafness-obesity syndromemitochondrial non-syndromic sensorineural hearing loss
HGNC:9217UniProt:P49335
CNGA2Cyclic nucleotide-gated channel alpha-2Candidate gene tested inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Cell projection, cilium membrane

VIAS BIOLÓGICAS (1)
VxPx cargo-targeting to cilium
OUTRAS DOENÇAS (1)
isolated congenital anosmia
HGNC:2149UniProt:Q16280
TENM1Teneurin-1Candidate gene tested inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Cell membraneNucleusNucleus speckleNucleus matrixCytoplasm, cytoskeletonCytoplasm

EXPRESSÃO TECIDUAL(Ubíquo)
Cerebelo
37.3 TPM
Cérebro - Hemisfério cerebelar
34.5 TPM
Pituitária
9.3 TPM
Esôfago - Muscular
7.9 TPM
Esôfago - Junção
7.7 TPM
INTERAÇÕES PROTEICAS (4)
OUTRAS DOENÇAS (1)
isolated congenital anosmia
HGNC:8117UniProt:Q9UKZ4
FOXL1Forkhead box protein L1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

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)

LOCALIZAÇÃO

Nucleus

MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Aorta
26.7 TPM
Artéria tibial
24.9 TPM
Fibroblastos
20.8 TPM
Artéria coronária
17.9 TPM
Nervo tibial
6.1 TPM
INTERAÇÕES PROTEICAS (2)
OUTRAS DOENÇAS (1)
otosclerosis 11
HGNC:HGNC:3817UniProt:Q12952
FREM1FRAS1-related extracellular matrix protein 1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development

LOCALIZAÇÃO

Secreted, extracellular space, extracellular matrix, basement membrane

MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Útero
12.8 TPM
Cérebro - Hemisfério cerebelar
11.8 TPM
Cerebelo
11.7 TPM
Aorta
8.8 TPM
Artéria tibial
8.2 TPM
OUTRAS DOENÇAS (5)
oculotrichoanal syndromeBNAR syndrometrigonocephaly 2renal agenesis, unilateral
HGNC:23399UniProt:Q5H8C1
TSHZ1Teashirt homolog 1Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential)

LOCALIZAÇÃO

Nucleus

MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Ovário
52.2 TPM
Cérebro - Hemisfério cerebelar
38.4 TPM
Cervix Endocervix
37.3 TPM
Cólon sigmoide
31.8 TPM
Cerebelo
31.4 TPM
INTERAÇÕES PROTEICAS (2)
OUTRAS DOENÇAS (2)
aural atresia, congenitalobsolete external auditory canal aplasia/hypoplasia
HGNC:10669UniProt:Q6ZSZ6
GPRASP2G-protein coupled receptor-associated sorting protein 2Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

May play a role in regulation of a variety of G-protein coupled receptors

LOCALIZAÇÃO

MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Cérebro - Hemisfério cerebelar
56.4 TPM
Ovário
52.1 TPM
Cerebelo
48.9 TPM
Brain Frontal Cortex BA9
47.3 TPM
Pituitária
39.8 TPM
INTERAÇÕES PROTEICAS (2)
OUTRAS DOENÇAS (1)
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
HGNC:25169UniProt:Q96D09
RFC1Replication factor C subunit 1Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (10)
HDR through Homologous Recombination (HRR)PCNA-Dependent Long Patch Base Excision RepairRecognition of DNA damage by PCNA-containing replication complexTermination of translesion DNA synthesisTranslesion synthesis by POLK
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
49.1 TPM
Ovário
34.9 TPM
Útero
32.5 TPM
Fibroblastos
30.7 TPM
Cervix Ectocervix
30.3 TPM
OUTRAS DOENÇAS (1)
cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HGNC:9969UniProt:P35251
IGSF3Immunoglobulin superfamily member 3Disease-causing germline mutation(s) inAltamente restrito
LOCALIZAÇÃO

Membrane

MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Esôfago - Mucosa
36.3 TPM
Skin Sun Exposed Lower leg
31.2 TPM
Skin Not Sun Exposed Suprapubic
27.7 TPM
Vagina
22.2 TPM
Rim - Medula
16.6 TPM
INTERAÇÕES PROTEICAS (1)
OUTRAS DOENÇAS (1)
familial congenital nasolacrimal duct obstruction
HGNC:5950UniProt:O75054
SMARCA4SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (10)
Formation of the beta-catenin:TCF transactivating complexNegative Regulation of CDH1 Gene TranscriptionRUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not knownRMTs methylate histone argininesFormation of neuronal progenitor and neuronal BAF (npBAF and nBAF)
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
81.7 TPM
Cérebro - Hemisfério cerebelar
65.7 TPM
Cerebelo
62.6 TPM
Linfócitos
61.0 TPM
Esôfago - Mucosa
57.8 TPM
OUTRAS DOENÇAS (7)
intellectual disability, autosomal dominant 16otosclerosis 12Coffin-Siris syndromeovarian small cell carcinoma
HGNC:11100UniProt:P51532
GSCHomeobox protein goosecoidDisease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (2)
Formation of definitive endodermGerm layer formation at gastrulation
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Mama
10.5 TPM
Tecido adiposo
6.1 TPM
Tireoide
3.3 TPM
Adipose Visceral Omentum
3.0 TPM
Nervo tibial
2.3 TPM
OUTRAS DOENÇAS (1)
short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
HGNC:4612UniProt:P56915

Variantes genéticas (ClinVar)

634 variantes patogênicas registradas no ClinVar.

🧬 POU3F4: NM_000307.5(POU3F4):c.986G>C (p.Arg329Pro) ()
🧬 POU3F4: GRCh37/hg19 Xq13.1-22.2(chrX:70460290-103312921)x3 ()
🧬 POU3F4: GRCh37/hg19 Xq21.1-22.3(chrX:77574432-106660031)x1 ()
🧬 POU3F4: NM_000307.5(POU3F4):c.142del (p.Ser48fs) ()
🧬 POU3F4: NM_000307.5(POU3F4):c.703T>A (p.Phe235Ile) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

32 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 31
·Pré-clínico4
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 5 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Doença otorrinolaringológica genética

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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

🟢 Recrutando agora

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Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

[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 edition2026 Jan 20

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.

🇧🇷 traduzido
#2

A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.

International journal of molecular sciences2026 Mar 09

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.

🇧🇷 traduzido
#3

Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.

International journal of molecular sciences2026 Feb 27

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.

🇧🇷 traduzido
#4

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.

European journal of pediatrics2026 Mar 10

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.

🇧🇷 traduzido
#5

Superenhancer-mediated ferroptosis in age-related hearing loss: cochlear epigenomics.

Cellular and molecular life sciences : CMLS2026 Mar 07

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.

🇧🇷 traduzido

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 200

2026

Macrophage-derived CXCL8 as a mediator of inflammatory attacks in Meniere's disease.

Frontiers in immunology
2026

The MYBL2-GTSE1 axis promotes laryngeal squamous cell carcinoma progression by regulating PI3K/AKT-dependent glycolytic reprogramming.

Cancer biology & therapy
2026

Development of Glioblastoma Multiforme in Patients With Human Papillomavirus-Positive Oropharyngeal Squamous Cell Carcinoma: A Case Series.

Cancer reports (Hoboken, N.J.)
2026

Microbiota in Chronic Suppurative Otitis media: association with Postoperative Tympanic membrane outcomes.

Applied microbiology and biotechnology
2025

Meckel-Gruber syndrome: a rare and fatal congenital disorder (case report).

The Pan African medical journal
2026

COX5A 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.]
2025

["Yingxiang" (LI2) acupoint injection alleviates nasal allergy symptoms in allergic rhinitis rats by regulating Treg/Th17 immune balance].

Zhen ci yan jiu = Acupuncture research
2026

[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

A 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 Obstetricians
2026

A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.

International journal of molecular sciences
2026

Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.

International journal of molecular sciences
2026

Sinonasal Nonkeratinizing Squamous Cell Carcinoma with Synchronous Presence of HPV-High Risk and MKRN1::BRAF Fusion.

Head and neck pathology
2026

Laryngeal ALK Positive Histiocytosis: Potential Mimic of Inflammatory Myofibroblastic Tumor-Case Report and Literature Review.

Head and neck pathology
2026

High frequency of mosaic NF2-related schwannomatosis diagnosed after somatic analysis of multi-nodular schwannomas in schwannomatosis patients.

Human genetics
2026

HELLS inhibits autophagy‑dependent ferroptosis in nasopharyngeal carcinoma by modulating the Nrf2/HO‑1/GPX4 pathway.

International journal of molecular medicine
2026

Parental experience of whole genome sequencing for children with sensorineural hearing loss.

International journal of qualitative studies on health and well-being
2026

Type 4 Woolly Hair-palmoplantar Keratoderma Syndrome with a Novel Phenotype.

The Journal of the Association of Physicians of India
2026

Toripalimab-based chemoimmunotherapy for unresectable sinonasal NUT carcinoma of the maxillary sinus: a case report.

Frontiers in immunology
2026

Uncovering 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
2025

[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
2026

[Beware of hearing loss in children].

Nederlands tijdschrift voor geneeskunde
2026

Novel ANKRD11 Mutation in KBG Syndrome: A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping.

Sultan Qaboos University medical journal
2026

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.

European journal of pediatrics
2026

miR-449a: A Novel Biomarker for Diagnosis, Prognosis, and Treatment Response in Locally Advanced Laryngeal Squamous Cell Carcinoma.

Oncology research
2026

Superenhancer-mediated ferroptosis in age-related hearing loss: cochlear epigenomics.

Cellular and molecular life sciences : CMLS
2026

The causality between dietary intake and allergic diseases: A two-sample Mendelian randomization analysis.

Medicine
2026

Integrated multi-omics profiling to dissect the development of second primary lung cancer in laryngeal cancer: An observational study.

Medicine
2026

[HPV-related oropharyngeal cancers: main characteristics and new virological tools].

Virologie (Montrouge, France)
2026

Integration of ear and hearing care services in low- and middle-income health systems: a systematic review and qualitative synthesis.

Global health action
2026

Molecular Etiology and Clinical Significance of Discordant Human Papillomavirus Testing in p16+ Oropharyngeal Cancers.

JCO precision oncology
2026

Salt-Inducible Kinase as a Predictive Biomarker in Laryngeal Squamous Cell Carcinoma: Insights into Treatment Efficacy and Patient Survival.

Nigerian journal of clinical practice
2026

Patient-derived TWNK variants recapitulate multisystem Perrault syndrome pathology in a mouse model.

Mitochondrion
2026

[Hearing impairment in children with cystic fibrosis].

Vestnik otorinolaringologii
2026

Generation 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 research
2026

Bilateral Cochlear Implantation in a Child With Galloway-Mowat Syndrome: A Case Report.

The American journal of case reports
2026

Delayed diagnosis of Waardenburg syndrome type 1 in a Syrian adult: Challenges and lessons from resource-limited settings, a case report and literature review.

Science progress
2026

Autophagy in Sensorineural Hearing Loss: Jekyll or Hyde?

International journal of molecular sciences
2026

Tissue 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 sciences
2026

Candidate Key Proteins in Thalamo-Amygdala Signaling in Tinnitus: A Bioinformatics Study.

International journal of molecular sciences
2026

Inflammation 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 sciences
2026

Nonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial Cells.

International journal of molecular sciences
2026

The Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.

Genes
2026

Extracellular Vesicles: A Multidimensional Role in the Occurrence and Development of Nasopharyngeal Carcinoma.

Biomolecules
2026

Nasopharyngeal Carcinoma at the Virology Precision Oncology Nexus: Decoding Molecular Alterations for Early Intervention and Therapeutic Innovation.

Biomolecules
2026

Multisession epidural direct current stimulation of the auditory cortex mitigates age-related transcriptomic dysregulation in Wistar rats.

Hearing research
2026

Abnormal Hearing Phenotypes in "Ignorome" Knockout Mice as Predictors of Cognitive Dysfunction.

Genes, brain, and behavior
2026

Engineered Exosomes: Advances in Therapeutic Applications for Otolaryngology-Head and Neck Diseases.

International journal of nanomedicine
2026

How Effective are Exosomes in Overcoming Blood-Labyrinth Barrier in Sensorineural Hearing Loss? A Comprehensive Review of the Literature.

International journal of nanomedicine
2026

The ubiquitin-proteasome system is an important driver of EBV-associated nasopharyngeal carcinoma progression: a meta-analysis of transcriptomic data.

Scientific reports
2026

Integrative computational and experimental analysis identifies MEK-mediated carcinogenic effects of bisphenol A and diethyl phthalate in head and neck cancer.

Ecotoxicology and environmental safety
2026

Multidimensional analysis of screening results of deafness susceptibility genes in 3066 newborns of different altitudes and nationalities in Xining, Qinghai(ISRCTN89197487).

PloS one
2026

Rare Sinonasal Case of IRF4-Rearranged Large B-Cell Lymphoma Mimicking Chronic Sinusitis.

Journal of investigative medicine high impact case reports
2026

Genetic mutations in recurrent and/or metastatic nasal carcinoma: A pathological comparison based on the Japanese national genomic profiling database.

Otolaryngologia polska = The Polish otolaryngology
2026

Establishment and characterization of a novel sinonasal adenosquamous carcinoma cell line, TC717, with a high tumor mutational burden.

Human cell
2026

From 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 Neurotology
2026

Erythropoietin alleviates syndrome-associated intellectual disability and autism-like behavior in Zbtb20-haploinsufficient Primrose syndrome mouse model.

JCI insight
2026

Novel Mutations in KCNJ10 Gene Associated With SeSAME Syndrome: Rare Disorder With Possible Common Mutation.

Molecular genetics & genomic medicine
2026

Adeno-associated viral vector administration to the inner ear and phenotype evaluation in a mouse model of hearing loss.

Methods in cell biology
2026

A Case Report of Thrombocytopenia Caused by a May-Hegglin Anomaly in a Young Saudi Female.

Journal of investigative medicine high impact case reports
2026

Therapeutic potential of Cuscutae Semen and Rehmanniae Radix Preparata in age-related central hearing loss associated with Gad1 regulation.

Journal of ethnopharmacology
2026

A 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 America
2026

Comprehensive in silico analysis of genetic landscape and pathways involved in Stickler syndrome.

PloS one
2026

Early-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant.

The American journal of case reports
2026

METTL14 modulates the nasopharyngeal carcinoma microenvironment via m6A-modified YWHAH identified through single-cell and machine learning analyses.

Frontiers in immunology
2026

Review of the literature on new histologic entities in sinonasal cancer.

European annals of otorhinolaryngology, head and neck diseases
2026

Whole 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 health
2026

RNA sequencing-based evaluation of the mechanisms underlying the liensinine-mediated inhibition of hypopharyngeal cancer proliferation.

The Journal of international medical research
2026

XKR8 Deletion Protects Against Noise-Induced Hearing Loss by Attenuating Apoptosis and Preserving Mitochondrial Bioenergetics in the Cochlea.

Molecular neurobiology
2026

Colchicine prophylaxis efficacy in PFAPA syndrome: A comparative cohort study.

Seminars in arthritis and rheumatism
2026

Oculomotor abnormalities in patients with cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) reflect midline cerebellar impairment.

Journal of neurology
2026

Pressure-induced ossicular alterations in the oim mouse model of brittle bone disease do not cause hearing loss.

Hearing research
2026

Transcriptional Reprogramming of Staphylococcus aureus in Chronic Rhinosinusitis Reveals a Persistence-Associated Phenotype.

International journal of molecular sciences
2026

Association of Single-Nucleotide Polymorphisms in Sweet Taste Perception and Intake Genes with Primary Ciliary Dyskinesia and Its Clinical Phenotypes.

International journal of molecular sciences
2026

Role of Periostin in the Development of Nasal Hyperresponsiveness in Mice with Allergic Rhinitis.

International journal of molecular sciences
2026

TRPM2 Channel Involvement in the Hesperidin-Mediated Potentiation of Cisplatin's Antitumor Action in Laryngeal Carcinoma Cells.

International journal of molecular sciences
2026

[Research progress in diagnostic methods for motile ciliopathies of multiciliated cells].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2026

[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
2026

[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 surgery
2026

NKG2D upregulation sensitizes tumors to combined anti-PD1 and anti-VEGF therapy and prevents hearing loss.

Nature communications
2026

Integrating environmental factors and genetic variants in machine learning to assess occupational noise impact on health.

Ecotoxicology and environmental safety
2026

Conditional Deletion of Isl1 Disrupts Cochlear Sensory and Neuronal Development, Leading to Hearing Loss.

Molecular neurobiology
2026

[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
2026

[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 surgery
2026

NFKB1 genetic variation and allergic rhinitis susceptibility: a study in the Chinese Han population.

Scientific reports
2026

CD38 degrades MAVS through mitophagy to inhibit type I interferon secretion in nasopharyngeal carcinoma cells and impairs CD8+T cell-mediated anti-tumor immunity.

Nature communications
2026

Sensory-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.

eNeuro
2025

Gut mycobiota dysbiosis and an emergent state of "co-dysbiosis" are associated with IgE sensitization in children with comorbid allergic rhinitis and constipation.

Frontiers in immunology
2026

The antioxidant capacity and in-vitro anticancer effects of Artocarpus lakoocha Roxb. against laryngeal cancer cells.

Scientific reports
2026

Integrating transcriptomics and metabolomics to explore the therapeutic effects and mechanisms of Zhushagen-Shandougen herb pair on chronic pharyngitis.

Journal of ethnopharmacology
2026

Differences in hearing across the lifespan in two strains of Alzheimer's mouse models as measured using behavioral and physiological techniques.

Hearing research
2026

Genetically predicted plasma metabolites mediate the relation between inflammatory factors and Meniere's disease.

Brazilian journal of otorhinolaryngology
2026

Quantitative proteomics analysis to identify biomarkers of refractory benign paroxysmal positional vertigo.

Brazilian journal of otorhinolaryngology
2026

Comprehensive next generation sequencing of middle ear neuroendocrine tumors.

Annals of diagnostic pathology
2026

A Qualitative Study of Yiddish-Speaking Hasidic Mothers' Experiences Parenting Deaf and Hard of Hearing Children.

Journal of speech, language, and hearing research : JSLHR
2025

[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 genetics
2026

Genetic 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 Cancer
2026

Two-step voltage-sensor activation of the human KV7.4 channel and effect of a deafness-associated mutation.

Nature communications
2026

A porcine congenital deafness model with unconditional knockout of GJB2 generated by CRISPR/Cas9 genomic editing.

Hearing research
2026

Spinocerebellar Ataxia Type 35 Presenting with Dysphagia in a Patient from Saudi Arabia: A Case Report and Literature Review.

Cerebellum (London, England)
2026

FOLR1 Mediated by ITCH Promotes Paclitaxel Resistance by Suppressing Pyroptosis in Nasopharyngeal Carcinoma.

Archiv der Pharmazie
2026

USP18 orchestrates malignant progression in nasopharyngeal carcinoma through UBR5-driven attenuation of p53 signaling.

International immunopharmacology
2026

Fluoxetine minimally affects hearing loss but induces gene expression changes in the cochlear nuclei after noise exposure.

PloS one
2026

Analysis of Plasma Epstein-Barr Virus DNA and Clinical Outcomes to Pembrolizumab or Chemotherapy in Recurrent/Metastatic Nasopharyngeal Cancer in KEYNOTE-122.

Cancer medicine
2026

Genetically predicted cerebrospinal fluid metabolite levels and risk of sudden sensorineural hearing loss: A Mendelian randomization study.

Medicine
2026

Peripheral blood eosinophils increase the risk on the occurrence of acute rhinosinusitis and transition to chronic rhinosinusitis: A Mendelian randomization study.

Medicine
2026

Hereditary hemorrhagic telangiectasia patient with pulmonary arteriovenous malformation: A case report.

Medicine
2026

[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 diseases
2026

X-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
2026

[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 genetics
2026

H1FX as a novel biomarker linking pan-apoptosis to immune dysregulation in allergic rhinitis.

European journal of medical research
2026

Linking misophonia and tinnitus: Common and divergent neurobiological mechanisms.

Neuroscience and biobehavioral reviews
2026

Inhibition of focal adhesion kinase impairs tumor formation and preserves hearing in a murine model of NF2-related schwannomatosis.

Science advances
2025

Integrative causal inference and predictive modeling reveal the iron-related gene SLC17A4 as a key biomarker in chronic rhinosinusitis.

Frontiers in immunology
2026

De Novo MYH9-Related Macrothrombocytopenia in a Toddler: Insights From Platelet Mass Index.

British journal of hospital medicine (London, England : 2005)
2026

The Immunogenetic Landscape of Allergic Rhinitis: from Cellular Effectors to Gene Regulation and Targeted Therapies.

International journal of biological sciences
2026

Akt/mTOR pathway-mediated CCNA1 regulation of radiotherapy resistance in nasopharyngeal carcinoma.

Cellular oncology (Dordrecht, Netherlands)
2026

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 Surgery
2026

Genome-wide investigation highlights global and local pleiotropy linking neurodevelopmental disorders to acquired hearing problems.

Psychological medicine
2026

Inverted Sinonasal Papilloma: Pheno-endotyping and Predictive Markers of Recurrence and Malignancy - A Systematic Review.

Current allergy and asthma reports
2026

Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss.

American journal of human genetics
2026

A Rare Clown Nose Manifestation of Metastatic Eccrine Porocarcinoma: Case Study and Review of the Literature.

The American Journal of dermatopathology
2026

Pulled-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 Strabismus
2026

Transcriptomic Profiling Reveals Divergent Immune Responses to AAV1 and AAV-ie in Mice Inner Ear.

International journal of medical sciences
2026

Pbx1 overexpression delays cochlear hair cells degeneration in an accelerated aging mouse model.

Hearing research
2026

Whole-Exome Profiling of Epstein-Barr Virus-Positive Neuroendocrine Carcinoma of the Nasopharynx.

Endocrine pathology
2026

Identification and phased de novo mutation of the EPS8L2 gene in a patient with progressive hearing loss: A case report.

Medicine
2026

Beyond epistaxis: cascade screening and presymptomatic treatment of hereditary hemorrhagic telangiectasia.

BMC pediatrics
2026

Noise exposure induces autophagy-modulated nuclear-to-cytoplasmic translocation of TDP-43 in spiral ganglion neurons.

Hearing research
2026

Pharmacological chaperones mitigate noise-induced hearing loss by attenuating sustained PERK activation.

Proceedings of the National Academy of Sciences of the United States of America
2026

Gut microbiota-based prediction of clinical response to sublingual immunotherapy in Artemisia pollen-induced allergic rhinitis: A prospective cohort study.

Acta microbiologica et immunologica Hungarica
2026

Collaborative 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 reports
2026

The mTOR Pathway in Hearing Disorders: Mechanistic Links to Aging, Regeneration, and Neurodegeneration.

Molecular neurobiology
2026

Clinical characteristics and severity of primary ciliary dyskinesia caused by large homozygous deletion including exons 1-4 of DRC1: A multicenter retrospective cohort study.

Respiratory investigation
2026

Chronic salicylate administration induces transcriptomic and metabolomic remodeling in the rat cochlear nucleus and hippocampus.

Hearing research
2026

Upregulation of Gfi1 induced by LSD1 inhibitor protects against cisplatin-induced ototoxicity through attenuating pyroptosis.

Experimental cell research
2026

Genetic 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 otorhinolaryngology
2026

MAP3K19 promotes the progression of hypopharyngeal cancer by suppressing dendritic cell maturation through mediating NF-κB activation and PD-L1 expression.

International immunopharmacology
2026

Prevalence of vestibulo-ocular reflex dysfunction in people with neurological disorders: a systematic review and meta-analysis.

Journal of neurology
2026

Evaluating 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 Neurotology
2026

Analysis of a Novel Mouse Mutation of the Deafness Gene Pejvakin.

Genesis (New York, N.Y. : 2000)
2026

Hearing loss in the young-old is associated with increased risk for Alzheimer's disease and vascular dementia.

Journal of Alzheimer's disease : JAD
2026

Five-year comparison of magnetic resonance imaging and endoscopy for nasopharyngeal carcinoma detection among high-risk populations undergoing screening.

Cancer
2026

Molecular heterogeneity of the non-human primate cochlea.

Nature communications
2026

Cell-type-specific reorganization of VGSCs in auditory cortex and therapeutic potential of Nav1.6 blockade for tinnitus.

Brain research bulletin
2026

Identification of hub genes and construction of a survival prediction model for patients with nasopharyngeal carcinoma.

Scientific reports
2026

Molecular markers of pediatric cholesteatoma: A gene expression comparison with adult tissue.

International journal of pediatric otorhinolaryngology
2026

Fermented and non-fermented pickles modulate gut microbiota in older adults with dysphagia: A pilot crossover study.

Clinical nutrition ESPEN
2026

Brusatol enhances ferroptosis susceptibility in nasopharyngeal carcinoma by downregulating Nrf2 expression.

European journal of pharmacology
2026

Generation of induced pluripotent stem cells from a patient with CHARGE syndrome with athymia, harboring a heterozygous mutation in CHD7.

Stem cell research
2026

Rasd2 Knockout Exaggerates the Hearing Loss Phenotype of Tsc1-Deficient Mice.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2025

The association between DNA repair genes polymorphisms and cisplatin-induced ototoxicity in cancer patients: a systematic review.

Personalized medicine
2026

Targeting EME1 Increases the Sensitivity of Camptothecin in Nasopharyngeal Carcinoma Cells.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2026

Exploring extracellular vesicle MicroRNAs in Usher syndrome type 1B: Tear-Derived EVs as potential indicators of retinal health.

Cellular and molecular life sciences : CMLS
2026

A novel CLPP variant in a Pakistani family with Perrault syndrome associated with recurrent fevers.

Clinica chimica acta; international journal of clinical chemistry
2026

Aberrant Hippo-YAP/TEAD Signaling Drives Malignant Transcriptional Reprogramming in External Auditory Canal Squamous Cell Carcinoma.

Cancer research communications
2026

Co-targeting MRPS7-23 synergistically enhances cisplatin efficacy to suppress nasopharyngeal carcinoma growth and metastasis.

International journal of biological sciences
2026

[Hearing phenotype and genotypic characteristics in GSDME-related deafness pedigrees].

Zhonghua yi xue za zhi
2026

DLX5 regulates nasal Epithelial Mesenchymal Transition and inflammation in EosCRSwNPs via the COL1A1-mediated Wnt/β-catenin Signaling.

International immunopharmacology
2026

Investigating the mechanisms of ageing and neuroinflammation in age-related hearing loss: A proteomic analysis.

Hearing research
2026

CircCramp1l targets the miR-532-3p/HMGB1/Drp1 axis to regulate allergic rhinitis.

Biochemical pharmacology
2026

CRISPR-Cas9-Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel-Gruber Syndrome Phenotype.

Genesis (New York, N.Y. : 2000)
2026

Early diagnosis of Lemierre syndrome using targeted next-generation sequencing combined with metagenomics capture: A case report and literature review.

Medicine
2026

GJB2-Related Hearing Loss: Genotype-Phenotype Correlations, Natural History, and Emerging Therapeutic Strategies.

International journal of molecular sciences
2025

Human Papillomavirus: Possible Mechanisms of Damage in Sinonasal Inverted Papilloma.

International journal of molecular sciences
2026

Expansion of Molecular and Clinical Aspects of EPS8L2 (DFNB106)-Associated Hearing Loss Emphasizes a Potential Therapeutic Window.

Molecular neurobiology
2026

PRMT5 upregulates KCNMB4 expression via histone methylation to promote paclitaxel resistance in advanced nasopharyngeal carcinoma.

Cell death & disease
2026

Generation 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 research
2026

Mechanisms of cellular senescence combined with molecular docking strategies: A biomarker study of potential therapeutic targets for allergic rhinitis.

PloS one
2026

A Novel Intronic Variant Causes Aberrant Splicing of PCDH15 in a Family With Usher Syndrome Type 1F.

Molecular genetics & genomic medicine
2026

Identification of a Novel Likely Pathogenic Variant of DIAPH3 Associated With New Phenotype of Sensorineural Hearing Loss.

Molecular genetics & genomic medicine
2026

Targeted demethylation of the BRD7 promoter based on CRISPR/dCas9 system inhibits the malignant progression of nasopharyngeal carcinoma.

Clinical and translational medicine
2025

[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
2025

[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 medica
2026

Diagnostic accuracy of combinatorial mRNA biomarkers for non-invasive detection and therapy monitoring of oral and oropharyngeal SCC.

British journal of cancer
2026

Human otoacariasis by Amblyomma testudinarium identified with 16S rRNA gene sequencing.

Auris, nasus, larynx
2026

Association of triglyceride and cholesterol with vestibular vertigo: Evidence from univariable and multivariable mendelian randomization and mediation analysis.

Brazilian journal of otorhinolaryngology
2026

Evaluation of Anti-BNLF2b Antibody and Epstein-Barr Virus Biomarkers for the Diagnosis of Nasopharyngeal Carcinoma: A Retrospective Study.

Technology in cancer research & treatment
2026

Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum.

Neurogenetics
2026

A 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 pathology
2026

Molecular and genetic insights into vestibular schwannoma.

Journal of neuro-oncology
2025

The Emergence of Drug Resistance in Extrapulmonary Tuberculosis: A Case Series.

Acta medica Indonesiana
2026

A 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 Oncology
2026

Delayed diagnosis of Townes-Brocks syndrome accompanied with kidney failure.

CEN case reports
2026

NOP2 Promotes Glycolysis and Tumor Development in Larynx Cancer by Stabilizing TPI1 mRNA Through N5-Methylcytosine Modification.

Molecular carcinogenesis
2026

Rapid bactericidal and anti-virulence effects of Quercus infectoria gall extract against the pharyngitis causing pathogen Streptococcus pyogenes.

Journal of ethnopharmacology
2026

A novel pathogenic mutation in TSPEAR associated with sensorineural hearing loss: a case report and review of the literature.

Journal of medical case reports
2026

Establishment of novel stable human sinonasal NUT carcinoma cell lines.

Oral oncology
2026

[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 diseases
2026

Caste-based genetic diagnosis: evidence from a pathogenic SLC26A4 variant implicated in hereditary hearing loss.

Journal of tropical pediatrics
2026

Newborn hearing screening to diagnosis: A clinical study of 15,818 cases.

International journal of pediatric otorhinolaryngology
2026

Randomized 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 otorhinolaryngology
2025

Correlation 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 therapeutics
2026

Evaluation of a fully automated "sample-to-result" PCR-based diagnostic test for detecting A/C/G Streptococci from throat swab specimens.

Microbiology spectrum
2026

Approach to the Patient: Mitochondrial Diabetes: Contemporary Cases and a Precision Medicine Approach.

The Journal of clinical endocrinology and metabolism
2025

DACT1 inhibits cuproptosis and promotes cell malignancy via activation of PI3K/AKT signaling in laryngeal squamous cell carcinoma.

European journal of medical research
2026

A multiomic framework for predicting laryngo-esophageal dysfunction following induction chemotherapy in hypopharyngeal-laryngeal carcinoma.

ESMO open
2026

Spatial Transcriptomics Unveils Landscape of Resistance to Concurrent Chemo-Radiotherapy in Hypopharyngeal Squamous Cell Carcinoma: The Role of SPP1+ Macrophages.

Cancer medicine
2025

Adipose-Derived Stem Cell Secretome Attenuates Eosinophilic Inflammation in a Chronic Rhinosinusitis with Nasal Polyps Mouse Model.

International journal of molecular sciences
2025

Bacterial Profile, Molecular Serotyping, and Key Genetic Determinants for Adhesion, Immune Evasion, and Tissue Spread Among Bulgarian Children with Acute Otitis Media.

Genes
2025

Novel hypoxia-immune biomarkers predict response to neoadjuvant chemotherapy in patients with laryngo-hypopharyngeal cancer.

European journal of medical research

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

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.

  1. [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
  2. A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.
    International journal of molecular sciences· 2026· PMID 41828725mais citado
  3. Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
    International journal of molecular sciences· 2026· PMID 41828453mais citado
  4. 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.
    European journal of pediatrics· 2026· PMID 41803575mais citado
  5. Superenhancer-mediated ferroptosis in age-related hearing loss: cochlear epigenomics.
    Cellular and molecular life sciences : CMLS· 2026· PMID 41793453mais citado
  6. Macrophage-derived CXCL8 as a mediator of inflammatory attacks in Meniere's disease.
    Front Immunol· 2026· PMID 41869317recente
  7. The MYBL2-GTSE1 axis promotes laryngeal squamous cell carcinoma progression by regulating PI3K/AKT-dependent glycolytic reprogramming.
    Cancer Biol Ther· 2026· PMID 41866755recente
  8. Development of Glioblastoma Multiforme in Patients With Human Papillomavirus-Positive Oropharyngeal Squamous Cell Carcinoma: A Case Series.
    Cancer Rep (Hoboken)· 2026· PMID 41863061recente
  9. Microbiota in Chronic Suppurative Otitis media: association with Postoperative Tympanic membrane outcomes.
    Appl Microbiol Biotechnol· 2026· PMID 41860619recente
  10. Meckel-Gruber syndrome: a rare and fatal congenital disorder (case report).
    Pan Afr Med J· 2025· PMID 41858965recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:466084(Orphanet)
  2. MONDO:0018751(MONDO)
  3. GARD:21935(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. 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.

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Doença otorrinolaringológica genética
Compêndio · Raras BR

Doença otorrinolaringológica genética

ORPHA:466084 · MONDO:0018751
MedGen
UMLS
C5681130
Wikidata
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