孤立型III型复合物缺乏症

Isolated complex III deficiency

ORPHA:1460疾病

定义英文原文（暂无中文）

Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).

别名

孤立型线粒体呼吸链复合物3缺乏症

基本事实

遗传方式: 常染色体隐性、线粒体遗传
发病年龄: 儿童期、婴儿期、新生儿期
患病率: <1 / 1 000 000

相关基因 11

基因	名称	关联类型
BCS1L	BCS1 ubiquinol-cytochrome c reductase complex chaperone	Disease-causing germline mutation(s) in
MT-CYB	mitochondrially encoded cytochrome b	Disease-causing germline mutation(s) in
UQCRQ	ubiquinol-cytochrome c reductase complex III subunit VII	Disease-causing germline mutation(s) in
UQCRB	ubiquinol-cytochrome c reductase binding protein	Disease-causing germline mutation(s) in
TTC19	tetratricopeptide repeat domain 19	Disease-causing germline mutation(s) in
UQCRC2	ubiquinol-cytochrome c reductase core protein 2	Disease-causing germline mutation(s) in
CYC1	cytochrome c1	Disease-causing germline mutation(s) in
LYRM7	LYR motif containing 7	Disease-causing germline mutation(s) in
UQCC2	ubiquinol-cytochrome c reductase complex assembly factor 2	Disease-causing germline mutation(s) in
UQCC3	ubiquinol-cytochrome c reductase complex assembly factor 3	Disease-causing germline mutation(s) in
UQCRFS1	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	Disease-causing germline mutation(s) in

外部标识与链接

Orphanet OMIM:124000 OMIM:615157 OMIM:615158 MONDO:0015448 GARD:8295ICD-10 G71.3ICD-11 5C53.2YClinicalTrials.gov 检索

发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号

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）