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遗传性嗜铬细胞瘤-副神经节瘤

Hereditary pheochromocytoma-paraganglioma

ORPHA:29072疾病

定义 英文原文（暂无中文）

A rare, hereditary, pheochromocytoma/paraganglioma tumor arising from neuroendocrine chromaffin cells of the adrenal medulla (pheochromocytoma) or from any paraganglia from the skull base to the pelvic floor (paraganglioma). Clinical manifestations are often linked to excess catecholamines production causing sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, palpitations, pallor and apprehension or anxiety. Hereditary pheochromocytoma/paraganglioma tumors tend to present at younger ages, to be multi-focal, bilateral, and recurrent, or to have multiple synchronous neoplasms.

别名

家族性嗜铬细胞瘤-副神经节瘤

基本事实

遗传方式
常染色体显性
发病年龄
儿童期
患病率
1-9 / 1 000 000

相关基因 15

基因名称关联类型
RETret proto-oncogeneCandidate gene tested in
SDHAsuccinate dehydrogenase complex flavoprotein subunit ADisease-causing germline mutation(s) in
SDHBsuccinate dehydrogenase complex iron sulfur subunit BDisease-causing germline mutation(s) in
SDHCsuccinate dehydrogenase complex subunit CDisease-causing germline mutation(s) in
SDHDsuccinate dehydrogenase complex subunit DDisease-causing germline mutation(s) in
VHLvon Hippel-Lindau tumor suppressorDisease-causing germline mutation(s) in
FHfumarate hydrataseDisease-causing germline mutation(s) (loss of function) in
KIF1Bkinesin family member 1BDisease-causing germline mutation(s) (loss of function) in
NF1neurofibromin 1Disease-causing germline mutation(s) in
SDHAF2succinate dehydrogenase complex assembly factor 2Disease-causing germline mutation(s) in
TMEM127transmembrane protein 127Candidate gene tested in
MAXMYC associated transcriptional regulator XDisease-causing germline mutation(s) in
MDH2malate dehydrogenase 2Disease-causing germline mutation(s) in
DLSTdihydrolipoamide S-succinyltransferaseDisease-causing germline mutation(s) in
SLC25A11solute carrier family 25 member 11Disease-causing germline mutation(s) in

临床表型 51

极常见 99–80%3

  • 肾上腺嗜铬细胞瘤 HP:0006748
  • 异位嗜铬细胞瘤 HP:0006737
  • 副神经节瘤 HP:0002668

常见 79–30%28

  • 脑出血 HP:0001342
  • 胸痛 HP:0100749
  • 发音困难 HP:0001618
  • 尿多巴胺水平升高 HP:0011979
  • 尿肾上腺素水平升高 HP:0003639
  • 尿去甲肾上腺素水平升高 HP:0003345
  • 阵发性腹痛 HP:0002574
  • 发作性多汗症 HP:0001069
  • 情景性阵发性焦虑 HP:0000740
  • 疲乏 HP:0012378
  • 红晕 HP:0031284
  • 肾小球硬化 HP:0000096
  • 高钙血症 HP:0003072
  • 高血压 HP:0000822
  • 嗜铬细胞瘤高血压 HP:0002640
  • 高血压性视网膜病变 HP:0001095
  • 恶心 HP:0002018
  • 体位性低血压 HP:0001278
  • 心悸 HP:0001962
  • 头部和颈部的副神经节瘤 HP:0002864
  • 发作性眩晕 HP:0010532
  • 酚妥拉明阻断试验阳性 HP:0003574
  • 蛋白尿 HP:0000093
  • 搏动性耳鸣 HP:0008629
  • 反复发作性头痛 HP:0002331
  • 窦性心动过速 HP:0011703
  • 晕厥 HP:0001279
  • 体重减轻 HP:0001824

偶见 29–5%19

  • 腹部肿块 HP:0031500
  • 蛛网膜血管瘤病 HP:0012222
  • 心肌病 HP:0001638
  • 传导性听力受损 HP:0000405
  • 充血性心力衰竭 HP:0001635
  • 便秘 HP:0002019
  • 颅神经受压 HP:0001293
  • 循环降钙素浓度升高 HP:0003528
  • 血尿 HP:0000790
  • 高血糖 HP:0003074
  • 高血压危象 HP:0100735
  • 心肌炎 HP:0012819
  • 苍白圈 HP:0000980
  • 惊恐发作（急性焦虑发作） HP:0025269
  • 肾细胞癌 HP:0005584
  • 肾功能不全 HP:0000083
  • 视网膜毛细血管瘤 HP:0009711
  • 震颤 HP:0001337
  • 声带麻痹 HP:0001605

罕见 <4–1%1

  • 无虹膜 HP:0000526

外部标识与链接

OrphanetOMIM:115310OMIM:168000OMIM:171300MONDO:0017366GARD:11984ICD-10 C74.1、C75.5、D35.0、D35.6ICD-11 5A75ClinicalTrials.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）