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Bardet-Biedl综合征

Bardet-Biedl syndrome

ORPHA:110疾病中国目录 第2批 · 8

定义 英文原文（暂无中文）

A rare genetic multisystem disorder characterized by the variable association of retinal dystrophy, obesity, polydactyly, genitourinary and kidney anomalies, learning disability and hypogonadism, with a wide spectrum of other minor manifestations.

别名

BBS

基本事实

遗传方式
常染色体隐性、寡基因
发病年龄
产前、儿童期、婴儿期、新生儿期
患病率
1-9 / 100 000（Specific population）

相关基因 26

基因名称关联类型
BBS1Bardet-Biedl syndrome 1Disease-causing germline mutation(s) in
BBS10Bardet-Biedl syndrome 10Disease-causing germline mutation(s) in
BBS2Bardet-Biedl syndrome 2Disease-causing germline mutation(s) in
BBS4Bardet-Biedl syndrome 4Disease-causing germline mutation(s) in
BBS5Bardet-Biedl syndrome 5Disease-causing germline mutation(s) in
BBS7Bardet-Biedl syndrome 7Disease-causing germline mutation(s) in
BBS9Bardet-Biedl syndrome 9Disease-causing germline mutation(s) in
CEP290centrosomal protein 290Disease-causing germline mutation(s) in
TRIM32tripartite motif containing 32Disease-causing germline mutation(s) in
TTC8tetratricopeptide repeat domain 8Disease-causing germline mutation(s) in
ARL6ARF like GTPase 6Disease-causing germline mutation(s) in
MKKSMKKS centrosomal shuttling proteinDisease-causing germline mutation(s) in
MKS1MKS transition zone complex subunit 1Disease-causing germline mutation(s) in
NPHP1nephrocystin 1Disease-causing germline mutation(s) (loss of function) in
BBS12Bardet-Biedl syndrome 12Disease-causing germline mutation(s) in
SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8Disease-causing germline mutation(s) (loss of function) in
WDPCPWD repeat containing planar cell polarity effectorDisease-causing germline mutation(s) in
CFAP418cilia and flagella associated protein 418Disease-causing germline mutation(s) (loss of function) in
LZTFL1leucine zipper transcription factor like 1Disease-causing germline mutation(s) in
IFT172intraflagellar transport 172Disease-causing germline mutation(s) in
BBIP1BBSome interacting protein 1Disease-causing germline mutation(s) in
CEP19centrosomal protein 19Disease-causing germline mutation(s) (loss of function) in
IFT27intraflagellar transport 27Disease-causing germline mutation(s) (loss of function) in
IFT74intraflagellar transport 74Disease-causing germline mutation(s) (loss of function) in
SCLT1sodium channel and clathrin linker 1Disease-causing germline mutation(s) in
SCAPERS-phase cyclin A associated protein in the ERDisease-causing germline mutation(s) (loss of function) in

临床表型 95

必现 100%1

  • 视网膜营养不良 HP:0000556

极常见 99–80%4

  • 儿童期发病的躯干肥胖 HP:0008915
  • 锥杆细胞营养不良 HP:0000548
  • 神经发育延迟 HP:0012758
  • 肥胖 HP:0001513

常见 79–30%31

  • 视网膜电图异常 HP:0000512
  • 口腔形态异常 HP:0000163
  • 泌尿生殖系统异常 HP:0000119
  • 嗅觉异常 HP:0004408
  • 非典型行为 HP:0000708
  • 孤独症 HP:0000717
  • 失明 HP:0000618
  • 短指（趾） HP:0001156
  • 慢性肾病 HP:0012622
  • 认知功能损害 HP:0100543
  • 色觉缺陷 HP:0000551
  • 低α-脂蛋白血症 HP:0003233
  • 牙列拥挤 HP:0000678
  • 抑郁 HP:0000716
  • 循环肝转氨酶水平升高 HP:0002910
  • 高腭 HP:0000218
  • 高血压 HP:0000822
  • 高甘油三酯血症 HP:0002155
  • 缺牙症 HP:0000668
  • 性腺功能减退症 HP:0000135
  • 阴茎发育不良 HP:0008736
  • 卵巢发育不良 HP:0008724
  • 空腹血糖受损 HP:0025691
  • 夜盲症 HP:0000662
  • 眼球震颤 HP:0000639
  • 畏光 HP:0000613
  • 轴后多指（趾） HP:0100259
  • 视力下降 HP:0007663
  • 注意力短暂 HP:0000736
  • 身材矮小 HP:0004322
  • 特定的学习障碍 HP:0001328

偶见 29–5%54

  • 心脏形态异常 HP:0001627
  • 异常言语模式 HP:0002167
  • 内分泌系统异常 HP:0000818
  • 胃肠道异常 HP:0011024
  • 焦虑 HP:0000739
  • 阴道发育不全/发育不良 HP:0011026
  • 哮喘 HP:0002099
  • 散光 HP:0000483
  • 共济失调 HP:0001251
  • 白内障 HP:0000518
  • 隐睾 HP:0000028
  • 睾丸体积过小 HP:0008734
  • 语言发育迟缓 HP:0000750
  • 鼻梁塌陷 HP:0005280
  • 下斜睑裂 HP:0000494
  • 情绪不稳 HP:0000712
  • 手指并指 HP:0006101
  • 全身性多毛症 HP:0002230
  • 听力受损 HP:0000365
  • 肝纤维化 HP:0001395
  • 肝脂肪变性 HP:0001397
  • 马蹄肾 HP:0000085
  • 子宫阴道积水 HP:0030010
  • 肾积水 HP:0000126
  • 眼距过宽 HP:0000316
  • 甲状腺功能减退症 HP:0000821
  • 不孕症/不育症 HP:0000789
  • 胰岛素抵抗 HP:0000855
  • 智力障碍 HP:0001249
  • 月经不调 HP:0000858
  • 关节过度活动 HP:0001382
  • 长人中 HP:0000343
  • 巨耳畸形 HP:0000400
  • 眉中部发散扩展 HP:0010747
  • 小牙畸形 HP:0000691
  • 多发性肾囊肿 HP:0005562
  • 鼻构音障碍 HP:0008376
  • 肾病综合征 HP:0000100
  • 神经源性膀胱功能障碍 HP:0000011
  • 中耳炎 HP:0000388
  • 多囊卵巢 HP:0000147
  • 后旋耳 HP:0000358
  • 鼻梁突出 HP:0000426
  • 下颌后缩 HP:0000278
  • 鼻炎 HP:0012384
  • 癫痫发作 HP:0001250
  • 短颈 HP:0000470
  • 骨骼肌萎缩 HP:0003202
  • 痉挛 HP:0001257
  • 斜视 HP:0000486
  • 并指（趾）畸形 HP:0001159
  • 马蹄内翻足 HP:0001762
  • 2型糖尿病 HP:0005978
  • 膀胱输尿管返流 HP:0000076

罕见 <4–1%5

  • 无神经节性巨结肠 HP:0002251
  • 心肌病 HP:0001638
  • 乳糜泻 HP:0002608
  • 第五指末节指骨弯曲 HP:0005769
  • 大肠炎症 HP:0002037

近两年的全球研究 835L2

2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

  • 2026-09综述开放获取
    A Quarter Century of EHD Protein Research: From Endosomal Recycling to Ciliopathies
    Traffic (Copenhagen, Denmark) · DOI · Europe PMC
  • 2026-08
    Assessment of cardiometabolic risk using single point insulin sensitivity estimator (SPISE) in pediatric Bardet-Biedl Syndrome: a pilot study
    Orphanet journal of rare diseases · DOI · Europe PMC
  • 2026-08
    Melanocortin-4 Receptor Regulation of Endocrine Axes and Clinical Effects of Setmelanotide
    The Journal of clinical endocrinology and metabolism · DOI · Europe PMC
  • 2026-07
    Kidney disease and surveillance testing in children with Bardet-Biedl syndrome: an administrative data study
    Pediatric nephrology (Berlin, Germany) · DOI · Europe PMC
  • 2026-07
    Bardet-Biedl syndrome in a Chinese patient with a novel homozygous &lt;i&gt;BBS5&lt;/i&gt; variant from paternal uniparental disomy
    Ophthalmic genetics · DOI · Europe PMC
  • 2026-07
    Genomic Landscape and Perinatal Outcomes of Fetal Polydactyly: A Retrospective Cohort Study Integrating CNV-seq and Trio-ES
    Prenatal diagnosis · DOI · Europe PMC
  • 2026-06综述
    Research Progress on the Pathogenesis and Diagnostic and Therapeutic Potential of Ciliopathies Regulated by IFT172
    Clinical genetics · DOI · Europe PMC
  • 2026-06开放获取
    Intraflagellar transport protein IFT172 contains a C-terminal ubiquitin-binding U-box-like domain involved in ciliary signaling
    eLife · DOI · Europe PMC
  • 2026-06
    Generation of an induced pluripotent stem cell line, LGMi002-A, from a Bardet-Biedl Syndrome patient with a BBS5 homozygous pathogenic variant
    Stem cell research · DOI · Europe PMC
  • 2026-06
    Bardet-Biedl syndrome 1 mutations differentially impact BBSome integrity and ciliary trafficking
    Cell communication and signaling : CCS · DOI · Europe PMC
  • 2026-06
    Rare disease monitoring plans: a case study within a clinical decision support system
    Computers in biology and medicine · DOI · Europe PMC
  • 2026-06病例报告开放获取
    Coats-like exudative vasculopathy in a patient with Bardet-Biedl syndrome
    American journal of ophthalmology case reports · DOI · Europe PMC
  • 2026-06综述开放获取
    The Ghrelin-LEAP2 System in Obesity and Diabetes: Pathophysiological Roles and Therapeutic Potential
    Current obesity reports · DOI · Europe PMC
  • 2026-06开放获取
    Gene set enrichment analysis of curated monogenic loci highlights key pathways and multisystem involvement in male infertility
    Basic and clinical andrology · DOI · Europe PMC
  • 2026-06病例报告
    Acute generalised exanthematous pustulosis during fatal refractory shock in Bardet-Biedl syndrome: a complex multidrug reaction in a medically fragile child
    BMJ case reports · DOI · Europe PMC
  • 2026-06开放获取
    In situ proteomics unveils specialized domains for extrasynaptic signaling on neuronal cilia
    Science advances · DOI · Europe PMC
  • 2026-06综述开放获取
    Primary cilia and neural computation
    Journal of biomedical science · DOI · Europe PMC
  • 2026-06综述
    Revisiting retinal and macular degeneration in the genomics era
    Nature reviews. Genetics · DOI · Europe PMC
  • 2026-06开放获取
    First Exonic Cryptic Branchpoint Variant in an Inherited Retinal Degeneration Detected in an Irish RPGR Pedigree with X-Linked Retinitis Pigmentosa
    Genes
  • 2026-06开放获取
    Correction: Gad et al. Management of Childhood Obesity. Int. J. Mol. Sci. 2026, 27, 3528
    International journal of molecular sciences

境外已获批用于本病的药物 2L2

欧盟 1 项、美国 1 项。同一药物在两地各批一次的，会分别列出。

「境外已获批」不等于「在中国能用」。中间隔着进口注册、临床急需境外新药通道、海南博鳌乐城国际医疗旅游先行区等几条路径，各有各的条件与费用。这一节能确定地告诉你的只有一件事：这个病在世界范围内已经有获得批准的药物，它叫什么名字。拿这个名字去问主治医生，是下一步最省力的做法。

药名一律保留英文原文，不作翻译——中国的药品通用名与英文名的音译经常不一致，译错会让人去找一个不存在的药。

已获孤儿药资格、尚未获批的在研药物（3 项）

孤儿药资格只是一种监管身份——它意味着监管机构认可这是罕见病用药并给予研发激励，不代表这个药已被证明有效，也不代表将来一定能上市。绝大多数最终不会成药。列在这里是为了看清有哪些方向正在被尝试。

  • adeno-associated virus 2/8 expressing human BBS1 gene美国2020-10-16
    treatment of Bardet-Biedl Syndrome
    官方记录
  • adeno-associated virus 2/9 expressing human BBS1 gene美国2020-10-16
    treatment of Bardet-Biedl Syndrome
    官方记录
  • recombinant, replication incompetent adeno-associated virus viral vect美国2024-10-11
    treatment of Bardet-Biedl syndrome (BBS)
    官方记录

数据来自欧洲药品管理局（EMA）的药品与孤儿药资格公开导出表，以及美国 FDA 孤儿药资格数据库。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。

中国境外的在招试验 8L2

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。

美国3英国1德国1法国1荷兰1

共 8 项。

  • 招募中NCT07269665
    First-in-Human, Dose Escalation Trial of AXV-101 in BBS1-Related Retinal Degeneration
    早期 I 期 · 干预性 · 2026/06/26Axovia Therapeutics
    英国
  • 尚未开始招募NCT06615011
    Bardet Beidle Syndrome in a Syrian Adolescent : a Rare Case Report
    观察性 · 2024/10/12Al Baath University
  • 招募中NCT07674290
    Real-World Effects of MC4R Agonist Therapy in BBS and Severe Genetic Obesity
    IV 期 · 干预性 · 2023/01/01Tom Hühne
    德国
  • 招募中NCT04461444
    COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study
    不适用 · 干预性 · 2020/06/16University Hospital, Strasbourg, France
    法国
  • 招募中NCT04463316
    GROWing Up With Rare GENEtic Syndromes
    观察性 · 2018/10/01dr. Laura C. G. de Graaff-Herder
    荷兰
  • 招募中NCT02435940
    Inherited Retinal Degenerative Disease Registry
    观察性 · 2014/06Foundation Fighting Blindness
    美国
  • 招募中NCT02329210
    Clinical Registry Investigating Bardet-Biedl Syndrome
    观察性 · 2014/06Marshfield Clinic Research Foundation
    美国
  • 招募中NCT01401998
    ARPKD Database Study
    观察性 · 2011/06Children's Hospital of Philadelphia
    美国

外部标识与链接

OrphanetOMIM:209900OMIM:600151OMIM:605231MONDO:0015229GARD:6866ICD-10 Q87.8ICD-11 5A61.0ClinicalTrials.gov 检索

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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）