心肌病-肌张力低下-乳酸性酸中毒综合征
Cardiomyopathy-hypotonia-lactic acidosis syndrome
ORPHA:91130疾病
定义 英文原文（暂无中文）
Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SLC25A3 | solute carrier family 25 member 3 | Disease-causing germline mutation(s) in |
临床表型 11
极常见 99–80%6
- 线粒体异常 HP:0012103
- 肥厚型心肌病 HP:0001639
- 肌张力减退 HP:0001252
- 循环乳酸水平升高 HP:0002151
- 乳酸酸中毒 HP:0003128
- 代谢性酸中毒 HP:0001942
常见 79–30%4
- 紫绀 HP:0000961
- 发育迟滞 HP:0001508
- 低输出型充血性心力衰竭 HP:0009805
- 肌病 HP:0003198
偶见 29–5%1
- 呼吸窘迫 HP:0002098
外部标识与链接
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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）