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范科尼贫血

Fanconi anemia

ORPHA:84疾病中国目录 第1批 · 29

定义 英文原文（暂无中文）

A rare genetic multisystem disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

别名

范科尼全血细胞减少

基本事实

遗传方式
常染色体隐性、X 连锁隐性
发病年龄
儿童期
患病率
1-9 / 100 000（Specific population）

相关基因 23

基因名称关联类型
RAD51RAD51 recombinaseDisease-causing germline mutation(s) in
BRCA1BRCA1 DNA repair associatedDisease-causing germline mutation(s) (loss of function) in
BRCA2BRCA2 DNA repair associatedDisease-causing germline mutation(s) in
BRIP1BRCA1 interacting DNA helicase 1Disease-causing germline mutation(s) in
ERCC4ERCC excision repair 4, endonuclease catalytic subunitDisease-causing germline mutation(s) in
FANCAFA complementation group ADisease-causing germline mutation(s) in
FANCBFA complementation group BDisease-causing germline mutation(s) in
FANCCFA complementation group CDisease-causing germline mutation(s) in
FANCD2FA complementation group D2Disease-causing germline mutation(s) in
FANCEFA complementation group EDisease-causing germline mutation(s) in
FANCFFA complementation group FDisease-causing germline mutation(s) in
FANCGFA complementation group GDisease-causing germline mutation(s) in
FANCLFA complementation group LDisease-causing germline mutation(s) in
FANCMFA complementation group MDisease-causing germline mutation(s) in
FANCIFA complementation group IDisease-causing germline mutation(s) in
PALB2partner and localizer of BRCA2Disease-causing germline mutation(s) in
RAD51CRAD51 paralog CDisease-causing germline mutation(s) in
SLX4SLX4 structure-specific endonuclease subunitDisease-causing germline mutation(s) in
XRCC2X-ray repair cross complementing 2Disease-causing germline mutation(s) in
UBE2Tubiquitin conjugating enzyme E2 TDisease-causing germline mutation(s) in
MAD2L2mitotic arrest deficient 2 like 2Disease-causing germline mutation(s) in
RFWD3ring finger and WD repeat domain 3Disease-causing germline mutation(s) in
FAAP100FA core complex associated protein 100Disease-causing germline mutation(s) (loss of function) in

临床表型 106

极常见 99–80%13

  • 拇指形态异常 HP:0001172
  • 血液和造血组织异常 HP:0001871
  • 染色体稳定性异常 HP:0003220
  • 皮肤着色异常 HP:0001000
  • 上肢异常 HP:0002817
  • 贫血 HP:0001903
  • 桡骨发育不良/发育不全 HP:0006501
  • 皮肤色素减退斑 HP:0001053
  • 不规则色素沉着 HP:0007400
  • 白细胞减少症 HP:0001882
  • 吡哆醇反应性铁粒幼细胞性贫血 HP:0005522
  • 身材矮小 HP:0004322
  • 血小板减少症 HP:0001873

常见 79–30%10

  • 心脏间隔异常 HP:0001671
  • 肾形态异常 HP:0012210
  • 泌尿系统异常 HP:0000079
  • 杏仁状睑裂 HP:0007874
  • 全面发育迟缓 HP:0001263
  • 智力障碍 HP:0001249
  • 小头畸形 HP:0000252
  • 肿瘤 HP:0002664
  • 脊柱侧弯 HP:0002650
  • 短睑裂 HP:0012745

偶见 29–5%83

  • 主动脉形态异常 HP:0001679
  • 主动脉瓣形态异常 HP:0001646
  • 眼睑形态异常 HP:0000492
  • 足部形态异常 HP:0001760
  • 肾脏位置异常 HP:0100542
  • 尺骨形态异常 HP:0040071
  • 神经系统形态异常 HP:0012639
  • 耳廓形态异常 HP:0000377
  • 睾丸形态异常 HP:0000035
  • 股骨形态异常 HP:0002823
  • 颈动脉形态异常 HP:0005344
  • 眼部异常 HP:0000478
  • 下丘脑-垂体轴异常 HP:0000864
  • 肝脏异常 HP:0001392
  • 包皮形态异常 HP:0100587
  • 子宫异常 HP:0000130
  • 视力异常 HP:0000504
  • 睾丸缺如 HP:0010469
  • 无神经节性巨结肠 HP:0002251
  • 肛门闭锁 HP:0002023
  • 手指发育不良/发育不全 HP:0006265
  • 虹膜发育缺陷/不全 HP:0008053
  • 悬雍垂发育不全／未发育 HP:0010293
  • 动静脉畸形 HP:0100026
  • 散光 HP:0000483
  • 房间隔缺损 HP:0001631
  • 无精症 HP:0000027
  • 双角子宫 HP:0000813
  • 白内障 HP:0000518
  • 鼻后孔闭锁 HP:0000453
  • 腭裂 HP:0000175
  • 第五指屈指畸形 HP:0004209
  • 杵状趾 HP:0100760
  • 颅神经麻痹 HP:0006824
  • 隐睾 HP:0000028
  • 男性生育能力下降 HP:0012041
  • 长头畸形 HP:0000268
  • 十二指肠狭窄 HP:0100867
  • 内眦赘皮 HP:0000286
  • 面部不对称 HP:0000324
  • 手指并指 HP:0006101
  • 前额突出 HP:0002007
  • 生长延迟 HP:0001510
  • 听力异常 HP:0000364
  • 听力受损 HP:0000365
  • 高腭 HP:0000218
  • 髋关节脱位 HP:0002827
  • 脑积水 HP:0000238
  • 输尿管积水 HP:0000072
  • 反射亢进 HP:0001347
  • 眼距过宽 HP:0000316
  • 肥厚型心肌病 HP:0001639
  • 性腺功能减退症 HP:0000135
  • 尺骨发育不良 HP:0003022
  • 尿道下裂 HP:0000047
  • 胎儿宫内发育迟缓 HP:0001511
  • Meckel憩室 HP:0002245
  • 小下颌 HP:0000347
  • 小眼症 HP:0000568
  • 多发性咖啡斑 HP:0007565
  • 骨髓增生异常 HP:0002863
  • 眼球震颤 HP:0000639
  • 羊水过少 HP:0001562
  • 动脉导管未闭 HP:0001643
  • 扁平足 HP:0001763
  • 眼球突出 HP:0000520
  • 上睑下垂 HP:0000508
  • 复发性尿路感染 HP:0000010
  • 骨密度降低 HP:0004349
  • 肾发育不良/不全 HP:0008678
  • 肾功能不全 HP:0000083
  • 额头倾斜 HP:0000340
  • 脊柱裂 HP:0002414
  • 斜视 HP:0000486
  • 法洛四联症 HP:0001636
  • 并趾 HP:0001770
  • 气管食管瘘 HP:0002575
  • 三指节拇指 HP:0001199
  • 脐疝 HP:0001537
  • 睑裂上斜 HP:0000582
  • 巨脑室 HP:0002119
  • 视觉障碍 HP:0000505
  • 体重减轻 HP:0001824

近两年的全球研究 16,202L2

2024/10 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。

  • 2096-06
    BRCA2 C-terminal clamp restructures RAD51 dimers to bind B-DNA for replication fork stability
    Molecular Cell
  • 2026-10
    The Role of Aldehyde Dehydrogenase 2 in Hematopoiesis is Stress-Severity Dependent
    Experimental hematology · DOI · Europe PMC
  • 2026-10
    Telomere length analysis using qPCR in aplastic anemia: prevalence and predictive value for germline mutation status
    Blood research · DOI · Europe PMC
  • 2026-10综述开放获取
    CCNE1: A Cell Cycle Regulator That Influences Tumor Progression
    Cancer medicine · DOI · Europe PMC
  • 2026-10开放获取
    Gestational Changes in Placental Iron Homeostasis are Associated With Ferroptosis-Associated Redox Signaling and Trophoblast Behavior
    FASEB journal : official publication of the Federation of American Soc · DOI · Europe PMC
  • 2026-10开放获取
    Pan-Cancer Analysis of the Immunomodulatory Roles and Prognostic Value of PDXP and Experimental Verification in SKCM
    Cancer medicine · DOI · Europe PMC
  • 2026-10开放获取
    Enhancing diagnostic precision for BI-RADS 4a breast nodules: A multimodal AI model integrating ultrasound radiomics, hemodynamic signatures, and clinical profiles
    Journal of applied clinical medical physics · DOI · Europe PMC
  • 2026-10
    Decision-Making in IVF: Restrictions on PGT-M Positive Embryo Transfers-A Qualitative Study
    Journal of genetic counseling · DOI · Europe PMC
  • 2026-09开放获取
    Elevated miR-103b in exosomes derived from brain-metastatic triple-negative breast cancer cells remodels the brain pre-metastatic niche (PMN)
    Cancer biology & therapy · DOI · Europe PMC
  • 2026-09综述
    Balancing benefits, costs, and harms: policy implications of expanding cancer susceptibility testing from genetics clinics to the general population
    The Lancet. Oncology · DOI · Europe PMC
  • 2026-09综述
    Bridging the BRCA1/2 variant previvor gap in health care
    JAAPA : official journal of the American Academy of Physician Assistan · DOI · Europe PMC
  • 2026-09综述开放获取
    Targeting the DNA Damage Response in Cancer
    MedComm · DOI · Europe PMC
  • 2026-09开放获取
    Targeting the PI3K/Akt Signaling Pathway: A Promising Therapeutic Strategy to Reduce Cancer Mortality and Overcome Chemoresistance
    Health science reports · DOI · Europe PMC
  • 2026-09开放获取
    From molecules to medicine: the gut‒heart axis comes of age
    Gut microbes · DOI · Europe PMC
  • 2026-09开放获取
    A breast tissue-specific epigenetic clock provides accurate chronological age predictions and reveals de-correlation of age and DNA methylation in tumor-adjacent and tumor samples
    Epigenetics · DOI · Europe PMC
  • 2026-09开放获取
    Profiling tumor immune microenvironment of epithelial ovarian carcinoma
    Oncoimmunology · DOI · Europe PMC
  • 2026-09开放获取
    Progesterone in feminizing gender affirming hormone therapy: study protocol for a randomized placebo-controlled trial
    Contemporary clinical trials communications · DOI · Europe PMC
  • 2026-09病例报告开放获取
    Primary pancreatic squamous cell carcinoma with duodenal invasion: Literature review and a case report
    Radiology case reports · DOI · Europe PMC
  • 2026-09综述开放获取
    DNA-PKcs and PARP1 at the interface between DNA damage responses and cGAS-STING signaling: context-dependent roles and therapeutic implications
    Cancer biology & therapy · DOI · Europe PMC
  • 2026-09开放获取
    Current landscape and emerging trends of PD-1/PD-L1 research in prostate cancer: A data-driven atlas from multidatabase integration
    Human vaccines & immunotherapeutics · DOI · Europe PMC

境外已获批用于本病的药物 0L2

欧盟与美国均未检索到已获批用于本病的药物。

尚未获批的在研药物（5 项）

这些药已被欧盟或美国的监管机构认定为罕见病用药（英文 orphan drug designation，中文行业里通称「孤儿药资格」——「孤儿」说的是这类药市场太小、没有厂商愿意认领，不是在说病人）。但这只是一种监管身份：意味着监管机构给予研发上的激励，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。

  • Fanskya欧盟2010-12-17
    Lentiviral vector carrying the Fanconi anaemia-A (FANCA) gene
    Treatment of Fanconi anaemia type A
    官方记录
  • gefinitib欧盟2018-10-26
    Treatment of Fanconi anaemia type A
    官方记录
  • afatinib欧盟2018-12-14
    Treatment of Fanconi anaemia
    官方记录
  • autologous human T cells transduced with a lentiviral vector encoding 欧盟2026-01-09
    Treatment of Fanconi anaemia
    官方记录
  • Fancalen (lentiviral vector containing the Fanconi anemia-A (FANCA) ge美国2016-05-02
    Treatment of Fanconi anemia type A patients.
    官方记录

数据来自欧洲药品管理局（EMA）的药品与罕见病用药资格公开导出表，以及美国 FDA 的罕见病用药资格数据库（Orphan Drug Product Designation Database）。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。

在中国开展的临床试验 6L2

按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。

登记为可入组 3

  • 可获取（拓展性用药）NCT01995305
    Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents
    拓展性用药Xiaofan Zhu
    中国研究中心 1 个：Tianjin
  • 招募中NCT06287541
    The Necessity of a Second Transurethral Resection in High-risk Non-muscle-invasive Bladder Cancer Patients With Negative Urine Biomarker After Initial Transurethral Resection
    不适用 · 干预性 · 2023/07/01The First Affiliated Hospital with Nanjing Medical University
    中国研究中心 1 个：Nanjing
  • 招募中NCT07036731
    A Study Comparing the Necessity of a Second Transurethral Resection in High-Risk Non-Muscle-Invasive Bladder Cancer Patients With Negative Results From Post-Initial Resection Urine Genome-Wide Low-Depth Sequencing
    不适用 · 干预性 · 2025/02/01The First Affiliated Hospital with Nanjing Medical University
    中国研究中心 1 个：Nanjing
其他状态的试验（3 项）
  • 已完成NCT00171821
    A Study Assessing the Efficacy and Safety of Deferasirox in Patients With Transfusion-dependent Iron Overload
    III 期 · 干预性 · 2005/04Novartis Pharmaceuticals
    中国研究中心 3 个：Guangzhou、Nanjing、Shanghai
  • 已撤回NCT06227429
    A Non-interventional, Post-Marketing Study to Describe Outcome of Nitisinone Treatment in HT-1 Patients
    观察性 · 2025/09Swedish Orphan Biovitrum
    中国研究中心 4 个：Beijing、Chongqing、Hefei、Wuhan
  • 已终止NCT03351868
    FANCA Gene Transfer for Fanconi Anemia Using a High-safety, High-efficiency, Self-inactivating Lentiviral Vector
    不适用 · 干预性 · 2026/06/01Shenzhen Geno-Immune Medical Institute
    中国研究中心 1 个：Shenzhen

中国境外的在招试验 30L2

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18西班牙4法国2匈牙利1波兰1德国1日本1比利时1荷兰1英国1

CT.gov 报告命中 30 项，此处取回并展示最近的 15 项。

  • 尚未开始招募NCT07408583
    Prenatal Transplantation for Fetuses With Fanconi Anemia
    I 期、II 期 · 干预性 · 2028/01Agnieszka Czechowicz
    美国
  • 尚未开始招募NCT07765836
    Vilastobart+Retifanlimab in BRCA or PALB2 Deficient PC
    II 期 · 干预性 · 2027/01Massachusetts General Hospital
    美国
  • 尚未开始招募NCT07005297
    Clinical Genetics Branch Eligibility Screening Survey
    观察性 · 2026/09/23National Cancer Institute (NCI)
    美国
  • 招募中NCT06744283
    Experience and Management of Cancer Screening-Related Anxiety in Fanconi Anemia
    观察性 · 2026/09/01National Cancer Institute (NCI)
    美国
  • 招募中NCT07459582
    Accuracy of Home Lactate Meter and Accu-chek Glucometer in Patients With Glycogen Storage Disease
    观察性 · 2026/08Connecticut Children's Medical Center
    美国
  • 招募中NCT07649031
    MRI as Noninvasive Innovative Approach in Detection and Monitoring of Malignant Oral Lesions in Fanconi Anemia Patients
    观察性 · 2026/06/23University of Minnesota
    美国
  • 尚未开始招募NCT07242261
    Non-invasive Characterisation of Oral Carcinomas in Patients With Fanconi Anaemia
    不适用 · 干预性 · 2026/04/01Institut Jean-Godinot
  • 招募中NCT06910813
    DFT383 in Pediatric Participants With Nephropathic Cystinosis
    I 期、II 期 · 干预性 · 2025/06/02Novartis Pharmaceuticals
    美国
  • 招募中NCT06458712
    Study to Assess Safety, Tolerability and Activity of DSB2455 in Participants With Advanced Malignancies
    I 期 · 干预性 · 2024/11/21Duke Street Bio Ltd
    法国、匈牙利、波兰、西班牙、美国
  • 招募中NCT06648096
    Afatinib in Patients With Fanconi Anemia (FA) and Advanced Head and Neck Squamous Cell Carcinoma (HNSCC)
    I 期、II 期 · 干预性 · 2024/11/08Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
    德国、西班牙
  • 招募中NCT05485766
    Novel Neoadjuvant and Adjuvant Strategy for Germline BRCA 1/2 Mutated Triple Negative Breast Cancer
    II 期 · 干预性 · 2024/07/16Okayama University
    日本
  • 尚未开始招募NCT05903365
    Observational Follow-up Study of Haplo-identical Transplants in Fanconi Disease
    观察性 · 2023/06Assistance Publique - Hôpitaux de Paris
  • 招募中NCT04954599
    Phase 1/2 Clinical Trial of CP-506 (HAP) in Monotherapy or With Carboplatin or ICI
    I 期、II 期 · 干预性 · 2023/05/30Maastricht University Medical Center
    比利时、荷兰、西班牙
  • 招募中NCT05687149
    Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia
    观察性 · 2023/03/23National Cancer Institute (NCI)
    美国
  • 招募中NCT05973656
    Role of Acetaldehyde in the Development of Oral Cancer
    不适用 · 干预性 · 2022/07/08Masonic Cancer Center, University of Minnesota
    美国

外部标识与链接

OrphanetOMIM:227645OMIM:227646OMIM:227650MONDO:0019391GARD:6425ICD-10 D61.0ICD-11 3A70.0ClinicalTrials.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）