Perrault syndrome type 1
ORPHA:642945疾病亚型暂无中文名
定义 英文原文（暂无中文）
A form of Perrault syndrome characterized by sensorineural hearing loss and ovarian dysgenesis in females. No neurological features are observed. Hearing loss is sensorineural, generally bilateral, prelingual, progressive, sometimes asymmetric and manifests with variable severity (mild to profound). Majority of the cases have primary amenorrhea.
别名
XX gonadal dysgenesis-deafness syndrome-without neurological manifestations
基本事实
- 遗传方式
- 常染色体隐性
相关基因 10
| 基因 | 名称 | 关联类型 |
|---|---|---|
| DAP3 | death associated protein 3 | Disease-causing germline mutation(s) in |
| HSD17B4 | hydroxysteroid 17-beta dehydrogenase 4 | Disease-causing germline mutation(s) in |
| TWNK | twinkle mtDNA helicase | Disease-causing germline mutation(s) in |
| HARS2 | histidyl-tRNA synthetase 2, mitochondrial | Disease-causing germline mutation(s) in |
| RMND1 | required for meiotic nuclear division 1 homolog | Disease-causing germline mutation(s) in |
| CLPP | caseinolytic mitochondrial matrix peptidase proteolytic subunit | Disease-causing germline mutation(s) in |
| LARS2 | leucyl-tRNA synthetase 2, mitochondrial | Disease-causing germline mutation(s) in |
| ERAL1 | Era like 12S mitochondrial rRNA chaperone 1 | Disease-causing germline mutation(s) in |
| GGPS1 | geranylgeranyl diphosphate synthase 1 | Disease-causing germline mutation(s) in |
| PRORP | protein only RNase P catalytic subunit | Disease-causing germline mutation(s) (loss of function) in |
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；本条目在该版本中无中文名
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）