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林奇综合征

Lynch syndrome

ORPHA:144疾病

定义 英文原文（暂无中文）

A rare form of hereditary nonpolyposis colon cancer (HNPCC) characterized by predisposition to a wide variety of cancers, including neoplasms of the digestive tract, urinary tract, endometrium, ovary, brain, and prostate, as well as sebaceous skin tumors. LS-associated tumors are typically characterized by the presence of microsatellite instability (MSI) and loss of expression of MMR proteins in tumor tissue.

基本事实

遗传方式
常染色体显性
发病年龄
成年期

相关基因 9

基因名称关联类型
PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alphaBiomarker tested in
PMS1PMS1 homolog 1, mismatch repair system componentCandidate gene tested in
PMS2PMS1 homolog 2, mismatch repair system componentDisease-causing germline mutation(s) in
TGFBR2transforming growth factor beta receptor 2Candidate gene tested in
KRASKRAS proto-oncogene, GTPaseBiomarker tested in
MLH1mutL homolog 1Disease-causing germline mutation(s) in
MSH2mutS homolog 2Disease-causing germline mutation(s) in
MSH6mutS homolog 6Disease-causing germline mutation(s) in
EPCAMepithelial cell adhesion moleculeDisease-causing germline mutation(s) in

临床表型 62

极常见 99–80%9

  • 腹痛 HP:0002027
  • 皮脂腺腺瘤 HP:0009720
  • 便秘 HP:0002019
  • 疲乏 HP:0012378
  • 胃肠道出血 HP:0002239
  • 多形性胶质母细胞瘤 HP:0012174
  • 吸收不良 HP:0002024
  • 皮肤肿瘤 HP:0008069
  • 体重减轻 HP:0001824

常见 79–30%16

  • 焦虑 HP:0000739
  • 注意力缺陷多动障碍 HP:0007018
  • 非典型行为 HP:0000708
  • 结肠癌 HP:0003003
  • 成年早期死亡 HP:0100613
  • 婴儿期夭折 HP:0001522
  • 抑郁 HP:0000716
  • 肌张力增高 HP:0001276
  • 肌张力减退 HP:0001252
  • 颅内压增高 HP:0002516
  • 易激惹 HP:0000737
  • 偏头痛 HP:0002076
  • 恶心和呕吐 HP:0002017
  • 直肠肿瘤 HP:0100743
  • 胃新生物 HP:0006753
  • 癫痫发作 HP:0001250

偶见 29–5%37

  • 锥体束征 HP:0007256
  • 异常言语模式 HP:0002167
  • 感官知觉受干扰 HP:0010524
  • 一时性黑蒙 HP:0100576
  • 基底细胞癌 HP:0002671
  • 中枢神经系统的良性肿瘤 HP:0100835
  • 乳腺癌 HP:0003002
  • 心脏憩室 HP:0100571
  • 发育倒退 HP:0002376
  • 构音障碍 HP:0001260
  • 书写困难 HP:0010526
  • 运动障碍 HP:0100660
  • 子宫内膜癌 HP:0012114
  • 屈曲挛缩 HP:0001371
  • 步态异常 HP:0001288
  • 幻觉 HP:0000738
  • 血液肿瘤 HP:0004377
  • 偏瘫/轻偏瘫 HP:0004374
  • 肝细胞癌 HP:0001402
  • 肠息肉病 HP:0200008
  • 喉癌 HP:0012118
  • 恶性泌尿生殖道肿瘤 HP:0006758
  • 记忆障碍 HP:0002354
  • 肝脏肿瘤 HP:0002896
  • 胰腺肿瘤 HP:0002894
  • 骨骼系统肿瘤 HP:0010622
  • 甲状腺肿瘤 HP:0100031
  • 神经母细胞瘤 HP:0003006
  • 卵巢肿瘤 HP:0100615
  • 胰腺腺癌 HP:0006725
  • 感觉异常 HP:0003401
  • 垂体腺瘤 HP:0002893
  • 肾肿瘤 HP:0009726
  • 唾液腺肿瘤 HP:0100684
  • 泌尿系肿瘤 HP:0010786
  • 视野缺损 HP:0001123
  • 视觉障碍 HP:0000505

外部标识与链接

OrphanetOMIM:120435OMIM:609310OMIM:613244MONDO:0005835GARD:9905ICD-10 C18.0、C18.1、C18.2、C18.3ICD-11 2B90.YClinicalTrials.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）