婴儿雷夫叙姆病
Infantile Refsum disease
ORPHA:772疾病
定义 英文原文（暂无中文）
Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD).
别名
IRD
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 各年龄段
相关基因 13
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PEX2 | peroxisomal biogenesis factor 2 | Disease-causing germline mutation(s) in |
| PEX1 | peroxisomal biogenesis factor 1 | Disease-causing germline mutation(s) in |
| PEX10 | peroxisomal biogenesis factor 10 | Disease-causing germline mutation(s) in |
| PEX12 | peroxisomal biogenesis factor 12 | Disease-causing germline mutation(s) in |
| PEX13 | peroxisomal biogenesis factor 13 | Disease-causing germline mutation(s) in |
| PEX14 | peroxisomal biogenesis factor 14 | Disease-causing germline mutation(s) in |
| PEX16 | peroxisomal biogenesis factor 16 | Disease-causing germline mutation(s) in |
| PEX19 | peroxisomal biogenesis factor 19 | Disease-causing germline mutation(s) in |
| PEX26 | peroxisomal biogenesis factor 26 | Disease-causing germline mutation(s) in |
| PEX3 | peroxisomal biogenesis factor 3 | Disease-causing germline mutation(s) in |
| PEX5 | peroxisomal biogenesis factor 5 | Disease-causing germline mutation(s) in |
| PEX6 | peroxisomal biogenesis factor 6 | Disease-causing germline mutation(s) in |
| PEX11B | peroxisomal biogenesis factor 11 beta | Disease-causing germline mutation(s) in |
临床表型 27
极常见 99–80%11
- 周边性视野狭窄 HP:0001133
- 循环植烷酸浓度升高 HP:0010571
- 发育迟滞 HP:0001508
- 全面发育迟缓 HP:0001263
- 肝脏肿大 HP:0002240
- 夜盲症 HP:0000662
- 进行性肌无力 HP:0003323
- 杆锥体营养不良 HP:0000510
- 身材矮小 HP:0004322
- 极长链脂肪酸堆积 HP:0008167
- 视觉障碍 HP:0000505
常见 79–30%7
- 共济失调 HP:0001251
- 非典型行为 HP:0000708
- 听力受损 HP:0000365
- 肌张力减退 HP:0001252
- 眼球震颤 HP:0000639
- 感音神经性听力受损 HP:0000407
- 痉挛 HP:0001257
偶见 29–5%9
- 骨骺形态异常 HP:0005930
- 脸部异常 HP:0000271
- 心律失常 HP:0011675
- 心肌病 HP:0001638
- 白内障 HP:0000518
- 面部神经麻痹 HP:0010628
- 鱼鳞病 HP:0008064
- 视神经萎缩 HP:0000648
- 癫痫发作 HP:0001250
外部标识与链接
OrphanetOMIM:202370OMIM:266510OMIM:601539MONDO:0019174GARD:4648ICD-10 G60.1ICD-11 5C57.1ClinicalTrials.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）