遗传性感觉和自主神经病5型
Hereditary sensory and autonomic neuropathy type 5
定义 英文原文（暂无中文）
A rare congenital sensory neuropathy characterized by selective or generalized loss of pain perception and impaired temperature sensitivity, in the absence of other abnormal neurological function. Patients present with variable severity of insensibility to pain and temperature. Self-mutilation of the lips, tongue, and fingers, painless injuries resulting in cuts, bruises, fractures, destroyed joints (Charcot joints) mostly in the knees and and feet are frequentyly observed. Patients have normal motor and sensory nerve conduction. Nerve biopsy typically manifest with reduced/absent small myelinated fibers whereas unmyelinated fibers are usually not affected. Episodic increase in body temperature, skin blotching, decreased sweating, poor wound healing, infections in teeth, joints and bone, neurotrophic keratitis, prematurely aged appearance, with malar hypoplasia, sunken eyes are reported in few patients. Mild intellectual disability may also be present.
别名
先天性痛觉温度觉不敏感
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000（Europe）
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| NGF | nerve growth factor | Disease-causing germline mutation(s) in |
| NTRK1 | neurotrophic receptor tyrosine kinase 1 | Candidate gene tested in |
临床表型 11
常见 79–30%11
- 牙列异常 HP:0000164
- 牙龈异常 HP:0000168
- 无汗症 HP:0000970
- 小的周围有髓鞘神经纤维数量减少 HP:0007249
- 眼睛深陷 HP:0000490
- 温度觉障碍 HP:0010829
- 轻度智力障碍 HP:0001256
- 颧骨扁平 HP:0000272
- 疼痛不敏感 HP:0007021
- 外伤性无痛骨折 HP:0002661
- 伤口愈合不良 HP:0001058
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）