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孤立型复合物I缺乏

Isolated complex I deficiency

ORPHA:2609疾病

定义 英文原文（暂无中文）

Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome.

别名

孤立型线粒体呼吸链复合物I缺乏症

基本事实

遗传方式
常染色体隐性、线粒体遗传、X 连锁显性
发病年龄
各年龄段

相关基因 30

基因名称关联类型
NDUFA9NADH:ubiquinone oxidoreductase subunit A9Disease-causing germline mutation(s) in
MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1Disease-causing germline mutation(s) in
MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2Disease-causing germline mutation(s) in
MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3Disease-causing germline mutation(s) in
NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2Disease-causing germline mutation(s) in
NDUFS1NADH:ubiquinone oxidoreductase core subunit S1Disease-causing germline mutation(s) in
NDUFS2NADH:ubiquinone oxidoreductase core subunit S2Disease-causing germline mutation(s) in
NDUFS3NADH:ubiquinone oxidoreductase core subunit S3Disease-causing germline mutation(s) in
NDUFS4NADH:ubiquinone oxidoreductase subunit S4Disease-causing germline mutation(s) in
NDUFS6NADH:ubiquinone oxidoreductase subunit S6Disease-causing germline mutation(s) in
NDUFS7NADH:ubiquinone oxidoreductase core subunit S7Disease-causing germline mutation(s) in
NDUFS8NADH:ubiquinone oxidoreductase core subunit S8Disease-causing germline mutation(s) in
NDUFV1NADH:ubiquinone oxidoreductase core subunit V1Disease-causing germline mutation(s) in
NDUFV2NADH:ubiquinone oxidoreductase core subunit V2Disease-causing germline mutation(s) in
NDUFA1NADH:ubiquinone oxidoreductase subunit A1Disease-causing germline mutation(s) in
NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4Disease-causing germline mutation(s) in
NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5Disease-causing germline mutation(s) in
NDUFA11NADH:ubiquinone oxidoreductase subunit A11Disease-causing germline mutation(s) in
NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3Disease-causing germline mutation(s) in
NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrialDisease-causing germline mutation(s) in
FOXRED1FAD dependent oxidoreductase domain containing 1Disease-causing germline mutation(s) in
NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1Disease-causing germline mutation(s) in
NDUFB9NADH:ubiquinone oxidoreductase subunit B9Disease-causing germline mutation(s) in
NDUFB3NADH:ubiquinone oxidoreductase subunit B3Disease-causing germline mutation(s) in
NDUFB11NADH:ubiquinone oxidoreductase subunit B11Candidate gene tested in
TMEM126Btransmembrane protein 126BDisease-causing germline mutation(s) (loss of function) in
NDUFA6NADH:ubiquinone oxidoreductase subunit A6Disease-causing germline mutation(s) in
NDUFB10NADH:ubiquinone oxidoreductase subunit B10Disease-causing germline mutation(s) in
TIMMDC1translocase of inner mitochondrial membrane domain containing 1Disease-causing germline mutation(s) (loss of function) in
NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8Disease-causing germline mutation(s) in

临床表型 37

必现 100%1

  • 线粒体复合物I活性降低 HP:0011923

极常见 99–80%31

  • 肌肉组织中线粒体异常 HP:0008316
  • 共济失调 HP:0001251
  • 脑病 HP:0001298
  • 发育迟滞 HP:0001508
  • 脑干局灶性T2高信号病变 HP:0012748
  • 全面发育迟缓 HP:0001263
  • 肝脏肿大 HP:0002240
  • 肥厚型心肌病 HP:0001639
  • 低血糖 HP:0001943
  • 肌张力减退 HP:0001252
  • 脑脊液乳酸升高 HP:0002490
  • 血清丙酮酸增高 HP:0003542
  • 胎儿宫内发育迟缓 HP:0001511
  • 乳酸酸中毒 HP:0003128
  • 昏睡 HP:0001254
  • 脑白质营养不良 HP:0002415
  • 白质脑病 HP:0002352
  • 线粒体肌病 HP:0003737
  • 肌无力 HP:0001324
  • 眼球震颤 HP:0000639
  • 视盘苍白 HP:0000543
  • 视神经病变 HP:0001138
  • 阵发性不自主眼球运动 HP:0007704
  • 头部控制能力弱 HP:0002421
  • 近端肾小管病 HP:0000114
  • 上睑下垂 HP:0000508
  • 减少目光接触 HP:0000817
  • 呼吸功能不全 HP:0002093
  • 感音神经性听力受损 HP:0000407
  • 斜视 HP:0000486
  • 呕吐 HP:0002013

偶见 29–5%5

  • 失明 HP:0000618
  • 糖尿病 HP:0000819
  • 喂养困难 HP:0011968
  • 胎儿窘迫 HP:0025116
  • 小头畸形 HP:0000252

外部标识与链接

OrphanetOMIM:252010OMIM:301020OMIM:301021MONDO:0100133GARD:3908ICD-10 G71.3ICD-11 5C53.2YClinicalTrials.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）