双侧纹状体-苍白球-齿状核钙化
Bilateral striopallidodentate calcinosis
ORPHA:1980疾病
定义 英文原文（暂无中文）
Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.
别名
特发性基底神经节钙化症
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性、不适用
- 发病年龄
- 成年期
- 患病率
- <1 / 1 000 000
相关基因 9
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PDGFRB | platelet derived growth factor receptor beta | Disease-causing germline mutation(s) in |
| RRP12 | ribosomal RNA processing 12 homolog | Disease-causing germline mutation(s) in |
| PDGFB | platelet derived growth factor subunit B | Disease-causing germline mutation(s) (loss of function) in |
| SLC20A2 | solute carrier family 20 member 2 | Disease-causing germline mutation(s) in |
| XPR1 | xenotropic and polytropic retrovirus receptor 1 | Disease-causing germline mutation(s) in |
| MYORG | myogenesis regulating glycosidase | Disease-causing germline mutation(s) in |
| JAM2 | junctional adhesion molecule 2 | Disease-causing germline mutation(s) (loss of function) in |
| NAA60 | N-alpha-acetyltransferase 60, NatF catalytic subunit | Disease-causing germline mutation(s) (loss of function) in |
| CMPK2 | cytidine/uridine monophosphate kinase 2 | Disease-causing germline mutation(s) (loss of function) in |
临床表型 33
常见 79–30%15
- 焦虑 HP:0000739
- 基底节钙化 HP:0002135
- 双侧基底节病变 HP:0007146
- 运动迟缓 HP:0002067
- 舞蹈手足徐动 HP:0001266
- 痴呆 HP:0000726
- 头痛 HP:0002315
- 面具样面容 HP:0000298
- 性格改变 HP:0000751
- 进行性神经功能恶化 HP:0002344
- 精神病 HP:0000709
- 强直 HP:0002063
- 癫痫发作 HP:0001250
- 震颤 HP:0001337
- 眩晕 HP:0002321
偶见 29–5%16
- 锥体束征 HP:0007256
- 小脑钙化 HP:0007352
- 笨拙 HP:0002312
- 注意力下降 HP:0031987
- 运动障碍 HP:0100660
- 吞咽困难 HP:0002015
- 肌张力障碍 HP:0001332
- 易疲劳性 HP:0003388
- 高血压 HP:0000822
- 阳痿 HP:0000802
- 不自主运动 HP:0004305
- 记忆障碍 HP:0002354
- 肌肉痉挛 HP:0003394
- 言语不清 HP:0001350
- 步态不稳 HP:0002317
- 尿急 HP:0000012
排除 0%2
- 血液代谢物浓度异常 HP:0032180
- 不寻常的中枢神经系统感染 HP:0011450
外部标识与链接
OrphanetOMIM:114100OMIM:213600OMIM:615007MONDO:0008947GARD:6406ICD-10 G23.8ICD-11 LD20.4ClinicalTrials.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）