Sagliker综合征
Sagliker syndrome
ORPHA:300493疾病
定义 英文原文（暂无中文）
A rare bone disease characterized by secondary hyperparathyroidism in patients with chronic renal failure, caused by improper treatment in the early stages of the disease with retention of phosphorus, vitamin D deficiency, and disturbed calcium-phosphorus metabolism, which result in increased parathyroid hormone levels. Patients present with short stature, severe changes of the skull and jaws as well as other skeletal deformities, dental anomalies, ''brown tumors'' in the mouth, hearing loss, and neuropsychiatric disorders.
基本事实
- 遗传方式
- 多基因/多因素
- 发病年龄
- 各年龄段
- 患病率
- <1 / 1 000 000
临床表型 13
极常见 99–80%4
- 面部形状异常 HP:0001999
- 牙列异常 HP:0000164
- 血甲状旁腺激素水平升高 HP:0003165
- 身材矮小 HP:0004322
常见 79–30%4
- 下肢异常 HP:0002814
- 抑郁 HP:0000716
- 高频听力受损 HP:0005101
- 蹒跚步态 HP:0002515
偶见 29–5%5
- 手指形态异常 HP:0001167
- 焦虑 HP:0000739
- 关节疼痛 HP:0002829
- 前额突出 HP:0002007
- 口腔肿瘤 HP:0100649
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）