肾母细胞瘤

Nephroblastoma

ORPHA:654疾病

定义英文原文（暂无中文）

A rare malignant renal tumor, typically affecting the pediatric population, characterized by an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.

别名

肾脏畸胎瘤

基本事实

遗传方式: 常染色体显性、不适用
发病年龄: 儿童期
患病率: 1-9 / 1 000 000（Europe）

相关基因 12

基因	名称	关联类型
POU6F2	POU class 6 homeobox 2	Major susceptibility factor in
BRCA2	BRCA2 DNA repair associated	Candidate gene tested in
WT1	WT1 transcription factor	Disease-causing somatic mutation(s) in
WT1	WT1 transcription factor	Major susceptibility factor in
GPC3	glypican 3	Biomarker tested in
H19	H19 imprinted maternally expressed transcript	Role in the phenotype of
DIS3L2	DIS3 like 3'-5' exoribonuclease 2	Major susceptibility factor in
REST	RE1 silencing transcription factor	Major susceptibility factor in
TRIP13	thyroid hormone receptor interactor 13	Disease-causing germline mutation(s) (loss of function) in
TRIM28	tripartite motif containing 28	Disease-causing germline mutation(s) in
TRIM28	tripartite motif containing 28	Disease-causing somatic mutation(s) in
CTR9	CTR9 component of Paf1/RNA polymerase II complex	Disease-causing germline mutation(s) in

临床表型 27

极常见 99–80%3

腹部肿块 HP:0031500
肿瘤 HP:0002664
肾母细胞瘤 HP:0002667

常见 79–30%3

腹痛 HP:0002027
双肾盂 HP:0005580
肉眼血尿 HP:0012587

偶见 29–5%20

子宫形态异常 HP:0031105
贫血 HP:0001903
无虹膜 HP:0000526
隐睾 HP:0000028
异位肾 HP:0000086
发热 HP:0001945
偏身肥大 HP:0001528
马蹄肾 HP:0000085
高钙血症 HP:0003072
高血压 HP:0000822
尿道下裂 HP:0000047
淋巴结肿大 HP:0002716
全身乏力不适 HP:0033834
镜下血尿症 HP:0002907
肝脏肿瘤 HP:0002896
肺部肿瘤 HP:0100526
红细胞增多症 HP:0001901
血管性血友病因子活性减低 HP:0008330
精索静脉曲张 HP:0012871
体重减轻 HP:0001824

罕见 <4–1%1

呼吸困难 HP:0002094

外部标识与链接

Orphanet OMIM:194070 OMIM:194071 OMIM:194090 MONDO:0019004 GARD:7892ICD-10 C64ICD-11 2C90.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）