Gorlin综合征
Gorlin syndrome
定义 英文原文（暂无中文）
A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.
别名
痣样基底细胞癌综合征
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 青少年期、成年期
- 患病率
- 1-9 / 100 000（Europe）
相关基因 3
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PTCH1 | patched 1 | Disease-causing germline mutation(s) (loss of function) in |
| PTCH2 | patched 2 | Disease-causing germline mutation(s) in |
| SUFU | SUFU negative regulator of hedgehog signaling | Disease-causing germline mutation(s) (loss of function) in |
临床表型 45
极常见 99–80%5
- 脑钙化 HP:0002514
- 黑素细胞痣 HP:0000995
- 肿瘤 HP:0002664
- 手掌点状隐窝 HP:0010610
- 跖部隐窝 HP:0010612
常见 79–30%14
- 肋骨形态异常 HP:0000772
- 颈部异常 HP:0000464
- 杯状前肋 HP:0000907
- 基底细胞癌 HP:0002671
- 肋骨端分叉 HP:0000892
- 短指（趾） HP:0001156
- 大脑镰钙化 HP:0005462
- 巨头畸形 HP:0000256
- 颌骨牙源性角化囊肿 HP:0010603
- 肋骨融合 HP:0000902
- 脊柱侧弯 HP:0002650
- 椎体融合 HP:0002948
- 椎体楔形变 HP:0008422
- 宽鼻梁 HP:0000431
偶见 29–5%24
- 椎骨形态异常 HP:0003468
- 嗅觉异常 HP:0004408
- 细长指(趾) HP:0001166
- 短头畸形 HP:0000248
- 桥形蝶鞍 HP:0005449
- 龋齿 HP:0000670
- 白内障 HP:0000518
- 面容粗糙 HP:0000280
- 隐睾 HP:0000028
- 内眦赘皮 HP:0000286
- 前额突出 HP:0002007
- 青光眼 HP:0000501
- 半椎体 HP:0002937
- 脑积水 HP:0000238
- 眼距过宽 HP:0000316
- 低促性腺激素性性腺功能减退症 HP:0000044
- 智力障碍 HP:0001249
- 虹膜缺损 HP:0000612
- 下颌前突 HP:0000303
- 脑膜瘤 HP:0002858
- 口面裂 HP:0000202
- 卵巢纤维瘤 HP:0010618
- 斜视 HP:0000486
- 内眦距过宽 HP:0000506
罕见 <4–1%2
- 心脏纤维瘤 HP:0010617
- 髓母细胞瘤 HP:0002885
近两年的全球研究 360L2
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。
- 2026-10开放获取Malassezia May Contribute to Basal Cell Carcinoma Development via Inflammatory and Oxidative Stress Pathways
- 2026-09开放获取Vulvar Apocrine Hidrocystoma: A Rare Case Report
- 2026-09开放获取Male Goltz Syndrome due to Postzygotic <i>PORCN</i> Mosaicism: A Case Report
- 2026-09开放获取Medulloblastoma in concurrence with metastatic gastrointestinal stromal tumor: what's the GIST? Illustrative case
- 2026-09开放获取Reflectance Confocal Microscopy for Treatment Response Monitoring in Locally Advanced Basal Cell Carcinoma Treated with Sonidegib: A Prospective Observational Study
- 2026-09病例报告开放获取Enhancing Communication and Consent Using 3-D Printed Models With a Pediatric Dental Patient Presenting With Odontogenic Keratocysts Associated With Gorlin Syndrome: A Case Report
- 2026-09开放获取The Role of Germline Transposable Element Insertions in Pediatric Cancer Predisposition
- 2026-08开放获取AOSNP-ADAPTR resource level-based recommendations on practical diagnostic strategies for medulloblastomas and other embryonal tumors
- 2026-08综述开放获取Antitumor properties of fungal-derived compounds: potential applications in skin cancer therapy
- 2026-08开放获取Identification of a novel and a recurrent <i>CDC45</i> variant in a Chinese family with Meier-Gorlin syndrome 7 and a literature review
- 2026-08综述开放获取Biosynthesis of Phosphatidylethanolamine and Phosphatidylcholine via the Kennedy Pathway in Cancer and Other Pathological Conditions
- 2026-08开放获取Population-based genomic detection of childhood cancer predisposition using newborn dried blood spots
- 2026-08Delayed Recognition of SUFU-Associated Gorlin Syndrome in a Renal Transplant Recipient
- 2026-08开放获取Quality of Life, Mental Health and Executive Function in Individuals with Basal Cell Naevus Syndrome
- 2026-07病例报告开放获取A Bifid Eleventh Rib Presenting as a Dorsal Mass in an Infant
- 2026-07Gorlin syndrome: Intracardiac tumor as initial manifestation
- 2026-07系统综述病例报告Endocrine Phenotypes and Hormonal Treatment in Meier-Gorlin Syndrome: Report of Two Cases and a Systematic Review of Literature
- 2026-07综述开放获取Lipid ciliology: specialized ciliary membrane lipids in physiology and disease
- 2026-07开放获取Tumor burden and management of basal cell carcinoma in Korean patients with Gorlin syndrome
- 2026-07综述开放获取Identification and management of genetic susceptibility to cancer: UK perspective
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（3 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。
- patidegib欧盟2018-03-21Treatment of naevoid basal-cell carcinoma syndrome (Gorlin syndrome)官方记录
- patidegib美国2017-07-19Treatment of nevoid basal cell carcinoma syndrome (Gorlin syndrome)官方记录
- Recombinant adenovirus carrying the cDNA coding sequence for the human美国2017-07-19Treatment of basal cell carcinomas in individuals with basal cell nevus syndrome (BCNS), also known as Gorlin syndrome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。
中国境外的在招试验 5L2
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荷兰2
共 5 项。
- 招募中NCT06623201Blue-Light Photodynamic Therapy and Sonidegib for Multiple Basal Cell Carcinomas美国
- 招募中NCT06330350Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling荷兰
- 招募中NCT05463757Oral Hedgehog Inhibitors in the Treatment of Basal Cell Carcinoma in the Netherlands: a Prospective Registration Study荷兰
- 招募中NCT03050268Familial Investigations of Childhood Cancer Predisposition美国
- 招募中NCT04569149Primordial Dwarfism Registry美国
外部标识与链接
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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）