进行性骨发育异常
Progressive osseous heteroplasia
定义 英文原文（暂无中文）
Progressive osseous heteroplasia (POH) is a rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism, and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.
别名
家族性异位骨化
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 儿童期、婴儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| GNAS | GNAS complex locus | Disease-causing germline mutation(s) (loss of function) in |
临床表型 12
极常见 99–80%4
- 骨痛 HP:0002653
- 异位钙化 HP:0010766
- 关节活动受限 HP:0001376
- 皮下结节 HP:0001482
常见 79–30%1
- 肌肉组织异位性骨化 HP:0011987
偶见 29–5%7
- 甲状旁腺异常 HP:0000828
- 短指（趾） HP:0001156
- 色素沉着斑 HP:0001034
- 斑疹 HP:0012733
- 骨关节炎 HP:0002758
- 丘疹 HP:0200034
- 肉瘤 HP:0100242
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）