罕见病知识库 RareSeen

非综合征型遗传性耳聋

Rare non-syndromic genetic deafness

ORPHA:87884疾病中国目录 第1批 · 83

定义 英文原文（暂无中文）

A rare genetic deafness characterized by sensorineural, conductive, or mixed hearing loss occurring as an isolated finding, without associated malformations or abnormalities of other organ systems. Hearing impairment may range from mild to profound; onset may be prelingual or postlingual, and hearing loss may be stable or progressive. It displays marked genetic heterogeneity with autosomal recessive (DFNB; ~75-80%), autosomal dominant (DFNA; ~20%), X-linked (DFNX; ~2-5%), mitochondrial (<1%), and Y-linked (DFNY; <1%) inheritance. Autosomal recessive forms typically present with severe-to-profound congenital hearing loss, while autosomal dominant forms more commonly show progressive postlingual onset.

别名

非综合征性遗传性听力丧失

基本事实

遗传方式
常染色体显性、常染色体隐性、X 连锁隐性
发病年龄
婴儿期、新生儿期

相关基因 60来自下位疾病

Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。

基因名称来源条目
ABCC1ATP binding cassette subfamily C member 1 (ABCC1 blood group)ORPHA:90635
ACTG1actin gamma 1ORPHA:90635
ADCY1adenylate cyclase 1ORPHA:90636
AFG2BAAA ATPase AFG2BORPHA:90636
AIFM1apoptosis inducing factor mitochondria associated 1ORPHA:139583
ATP11AATPase phospholipid transporting 11AORPHA:90635
BDP1BDP1 general transcription factor IIIB subunitORPHA:90636
BSNDbarttin CLCNK type accessory subunit betaORPHA:90636
CABP2calcium binding protein 2ORPHA:90636
CCDC50coiled-coil domain containing 50ORPHA:90635
CD164CD164 moleculeORPHA:90635
CDC14Acell division cycle 14AORPHA:90636
CDH23cadherin related 23ORPHA:90636
CEACAM16CEA cell adhesion molecule 16, tectorial membrane componentORPHA:90635
CENPPcentromere protein PORPHA:90635
CIB2calcium and integrin binding family member 2ORPHA:90636
CLDN14claudin 14ORPHA:90636
CLIC5CLIC family member 5ORPHA:90636
COCHcochlinORPHA:90635
COL11A1collagen type XI alpha 1 chainORPHA:90635
COL11A2collagen type XI alpha 2 chainORPHA:90635
COL4A6collagen type IV alpha 6 chainORPHA:90625
CRYMcrystallin muORPHA:90635
DCDC2doublecortin domain containing 2ORPHA:90636
DIABLOdiablo IAP-binding mitochondrial proteinORPHA:90635
DIAPH3diaphanous related formin 3ORPHA:90635
DMXL2Dmx like 2ORPHA:90635
ELMOD3ELMO domain containing 3ORPHA:90636
EPS8EGFR pathway substrate 8, signaling adaptorORPHA:90636
EPS8L2EPS8 signaling adaptor L2ORPHA:90636
ESPNespinORPHA:90635
ESRRBestrogen related receptor betaORPHA:90636
EYA4EYA transcriptional coactivator and phosphatase 4ORPHA:90635
GIPC3GIPC PDZ domain containing family member 3ORPHA:90636
GJB2gap junction protein beta 2ORPHA:90635
GJB3gap junction protein beta 3ORPHA:90635
GJB6gap junction protein beta 6ORPHA:90635
GPSM2G protein signaling modulator 2ORPHA:90636
GRAPGRB2 related adaptor proteinORPHA:90636
GRHL2grainyhead like transcription factor 2ORPHA:90635
GRXCR1glutaredoxin and cysteine rich domain containing 1ORPHA:90636
GRXCR2glutaredoxin and cysteine rich domain containing 2ORPHA:90636
GSDMEgasdermin EORPHA:90635
HGFhepatocyte growth factorORPHA:90636
HOMER2homer scaffold protein 2ORPHA:90635
ILDR1immunoglobulin like domain containing receptor 1ORPHA:90636
KARS1lysyl-tRNA synthetase 1ORPHA:90636
KCNQ4potassium voltage-gated channel subfamily Q member 4ORPHA:90635
KITLGKIT ligandORPHA:90635
LHFPL5LHFPL tetraspan subfamily member 5ORPHA:90636
LOXHD1lipoxygenase homology PLAT domains 1ORPHA:90636
LRTOMTleucine rich transmembrane and O-methyltransferase domain containingORPHA:90636
MAP1Bmicrotubule associated protein 1BORPHA:90635
MARVELD2MARVEL domain containing 2ORPHA:90636
MCM2minichromosome maintenance complex component 2ORPHA:90635
METMET proto-oncogene, receptor tyrosine kinaseORPHA:90636
MINAR2membrane integral NOTCH2 associated receptor 2ORPHA:90636
MIR96microRNA 96ORPHA:90635
MPZL2myelin protein zero like 2ORPHA:90636
MSRB3methionine sulfoxide reductase B3ORPHA:90636

临床表型 13

常见 79–30%6

  • 言语辨别异常 HP:0001963
  • 语言发育迟缓 HP:0000750
  • 学语后感音神经性听力受损 HP:0008596
  • 学语前感音神经性听力受损 HP:0000399
  • 极重度感音神经性听力受损 HP:0011476
  • 渐进性感音神经性听力受损 HP:0000408

偶见 29–5%6

  • 前庭眼反射异常 HP:0007670
  • 儿童起病感音神经性听力受损 HP:0011474
  • 传导性听力受损 HP:0000405
  • 高频听力受损 HP:0005101
  • 中度听力受损 HP:0012713
  • 重度听力受损 HP:0012714

罕见 <4–1%1

  • 低频感音神经性听力受损 HP:0008573

近两年的全球研究 97L2

2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。本病的检索词较宽泛，命中数可能偏高，请以标题为准。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

  • 2026-06
    Tonotopic specialization of MYO7A isoforms in auditory hair cells
    Nature communications · DOI · Europe PMC
  • 2026-06开放获取
    HSD17B7 is required for the function of sensory hair cells by regulating cholesterol synthesis
    eLife · DOI · Europe PMC
  • 2026-06开放获取
    Situational analysis of health systems for ear and hearing care in the World Health Organization (WHO) Eastern Mediterranean Region: A systematic review and evidence synthesis to inform national policies and strategies
    SSM - health systems · DOI · Europe PMC
  • 2026-05综述开放获取
    Connexin 26 in Hearing Health and Disease: StructuralFoundations, Mutation Mechanisms, and Therapeutic Perspectives
    International journal of molecular sciences · DOI · Europe PMC
  • 2026-05开放获取
    Comprehensive genotype-phenotype correlation analysis in 11 509 neonates carrying common deafness-associated pathogenic variants
    Journal of medical genetics · DOI · Europe PMC
  • 2026-05开放获取
    Efficacy and safety of SENS-501, a dual-AAV otoferlin gene therapy, for DFNB9 congenital deafness
    Molecular therapy. Advances · DOI · Europe PMC
  • 2026-04开放获取
    Multi-omics single-cell dissection of malignant epithelial heterogeneity identifies GJB2 as an EMT-driving biomarker in triple-negative breast cancer
    BMC medical genomics · DOI · Europe PMC
  • 2026-04综述开放获取
    Gasdermin family: a promising therapeutic target for asthma
    Frontiers in medicine · DOI · Europe PMC
  • 2026-03开放获取
    Multi-omics and mendelian randomization uncover microbial-metabolite-gene interactions in age-related hearing loss
    AMB Express · DOI · Europe PMC
  • 2026-03综述开放获取
    Multitarget protection by Chinese herbal medicines against sensorineural hearing loss: a focus on oxidative stress, apoptosis, and inflammation
    Frontiers in medicine · DOI · Europe PMC
  • 2026-03系统综述开放获取
    A Systematic Review of Genes Affecting Endocochlear Potential
    Journal of the Association for Research in Otolaryngology : JARO · DOI · Europe PMC
  • 2026-03
    Vestibular function prior to cochlear implantation in patients with non-syndromic hearing loss caused by CDH23 mutations: a retrospective case series
    Acta oto-laryngologica · DOI · Europe PMC
  • 2026-02开放获取
    Multidimensional analysis of screening results of deafness susceptibility genes in 3066 newborns of different altitudes and nationalities in Xining, Qinghai(ISRCTN89197487)
    PloS one · DOI · Europe PMC
  • 2026-02开放获取
    Abnormal iron homeostasis mediates cochlear hair cell impairment and hearing loss in Gprasp2-deficient mice
    Communications biology · DOI · Europe PMC
  • 2026-02开放获取
    Genetic Diagnosis and Discovery Enabled by Large Language Models
    Advanced science (Weinheim, Baden-Wurttemberg, Germany) · DOI · Europe PMC
  • 2026-02综述开放获取
    Autophagy in Sensorineural Hearing Loss: Jekyll or Hyde?
    International journal of molecular sciences
  • 2026-01开放获取
    Analysis of combined screening results of the hearing and deafness genes in 10,754 newborns
    Open medicine (Warsaw, Poland) · DOI · Europe PMC
  • 2026-01开放获取
    GJB2 c.109G &gt; A mutation activating IFI27-mediated mitochondrial apoptosis pathway leading to hereditary non-syndromic hearing loss
    Scientific reports · DOI · Europe PMC
  • 2026-01开放获取
    P2X4 receptors as the dynamic regulators of auditory sensory cell activity: a potential new mechanism for protecting hearing?
    Purinergic signalling · DOI · Europe PMC
  • 2026-01病例报告开放获取
    Dual Genetic Diagnosis of Prader-Willi Syndrome and TMC1-Related Severe Congenital Hearing Loss: Diagnostic Challenges and Cochlear Implant Outcomes
    Diagnostics (Basel, Switzerland) · DOI · Europe PMC

中国境外的在招试验 2L2

这些试验在中国没有研究中心，通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处：看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生，或据此进一步查该药是否已在境外获批、是否有拓展性用药（expanded access）通道。

法国1澳大利亚1美国1

共 2 项。

  • 招募中NCT05402813
    Natural History in Children up to 16 Years With Mild to Profound Hearing Loss Due to Mutations in GJB2 / OTOF Genes
    观察性 · 2022/11/18Sensorion
    法国
  • 招募中NCT01793168
    Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
    观察性 · 2010/07Sanford Health
    澳大利亚、美国

外部标识与链接

OrphanetMONDO:0019497ICD-10 H90.5ICD-11 AB50ClinicalTrials.gov 检索

发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号

本页数据来源

  • 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
  • 中文病名：Orphanet 中文包，冻结于 2020-06-01
  • 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）