先天性巨结肠

Hirschsprung disease

ORPHA:388疾病

定义英文原文（暂无中文）

A rare congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.

别名

先天性肠神经节细胞缺失症

基本事实

遗传方式: 常染色体显性、常染色体隐性、多基因/多因素、不适用
发病年龄: 儿童期、婴儿期、新生儿期
患病率: 1-5 / 10 000（Europe）

相关基因 14

基因	名称	关联类型
ABCD1	ATP binding cassette subfamily D member 1	Disease-causing germline mutation(s) in
RET	ret proto-oncogene	Disease-causing germline mutation(s) in
ATP7A	ATPase copper transporting alpha	Disease-causing germline mutation(s) in
ECE1	endothelin converting enzyme 1	Major susceptibility factor in
EDN3	endothelin 3	Major susceptibility factor in
EDNRB	endothelin receptor type B	Major susceptibility factor in
GDNF	glial cell derived neurotrophic factor	Major susceptibility factor in
NRTN	neurturin	Major susceptibility factor in
ERBB3	erb-b2 receptor tyrosine kinase 3	Disease-causing germline mutation(s) in
SEMA3C	semaphorin 3C	Major susceptibility factor in
SEMA3D	semaphorin 3D	Major susceptibility factor in
SMO	smoothened, frizzled class receptor	Disease-causing germline mutation(s) in
ERBB2	erb-b2 receptor tyrosine kinase 2	Disease-causing germline mutation(s) in
SREBF1	sterol regulatory element binding transcription factor 1	Disease-causing germline mutation(s) in

临床表型 19

极常见 99–80%6

腹痛 HP:0002027
无神经节性巨结肠 HP:0002251
便秘 HP:0002019
胃肠道功能异常 HP:0012719
肠梗阻 HP:0005214
恶心和呕吐 HP:0002017

常见 79–30%5

腹胀 HP:0003270
胆汁性呕吐 HP:0034754
胎粪排出延迟 HP:6000224
喂养困难 HP:0011968
体重减轻 HP:0001824

偶见 29–5%8

结肠穿孔 HP:0031369
腹泻 HP:0002014
小肠结肠炎 HP:0004387
婴儿期生长障碍 HP:0001531
生长延迟 HP:0001510
羊水过多 HP:0001561
脓毒症 HP:0100806
身材矮小 HP:0004322

外部标识与链接

Orphanet OMIM:142623 OMIM:600155 OMIM:600156 MONDO:0018309 GARD:6660ICD-10 Q43.1ICD-11 LB16.1ClinicalTrials.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）