新生儿肾上腺脑白质营养不良
Neonatal adrenoleukodystrophy
ORPHA:44疾病
定义 英文原文（暂无中文）
A variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS) characterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD).
别名
NALD
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 儿童期、婴儿期、新生儿期
- 患病率
- 1-9 / 100 000（Italy）
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 29
极常见 99–80%21
- 腭形态异常 HP:0000174
- 代谢紊乱/稳态失衡 HP:0001939
- 运动异常 HP:0100022
- 肝脏异常 HP:0001392
- 鼻孔前翻 HP:0000463
- 发育倒退 HP:0002376
- 长头畸形 HP:0000268
- 脑电图异常 HP:0002353
- 额头高 HP:0000348
- 反射亢进 HP:0001347
- 肌张力减退 HP:0001252
- 眼球震颤 HP:0000639
- 视神经萎缩 HP:0000648
- 后旋耳 HP:0000358
- 原发性肾上腺功能不全 HP:0008207
- 癫痫发作 HP:0001250
- 感音神经性听力受损 HP:0000407
- 严重的全面性发育迟缓 HP:0011344
- 身材矮小 HP:0004322
- 斜视 HP:0000486
- 宽鼻梁 HP:0000431
常见 79–30%8
- 神经细胞迁移异常 HP:0002269
- 视网膜色素异常 HP:0007703
- 双侧单掌横折痕 HP:0007598
- 白内障 HP:0000518
- 巨头畸形 HP:0000256
- 上睑下垂 HP:0000508
- 视觉障碍 HP:0000505
- 前囟增宽 HP:0000260
外部标识与链接
OrphanetOMIM:202370OMIM:266510OMIM:601539MONDO:0018598GARD:559ICD-10 E71.3ICD-11 5A74.YClinicalTrials.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）