成骨不全症3型
Osteogenesis imperfecta type 3
ORPHA:216812疾病亚型
定义
成骨不全Ⅲ型是一种严重的成骨不全（OI；见该词条），一种以骨脆性增加、骨量低和易骨折为特征的遗传性疾病。III型患者的主要症状包括身材矮小、三角形脸、严重的脊柱侧凸、浅灰色巩膜和牙本质发育不全（DI；见该词条）。
别名
进行性变形性成骨不全
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性、X 连锁隐性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- 1-9 / 1 000 000（Sweden）
相关基因 13
| 基因 | 名称 | 关联类型 |
|---|---|---|
| COL1A1 | collagen type I alpha 1 chain | Disease-causing germline mutation(s) in |
| COL1A2 | collagen type I alpha 2 chain | Disease-causing germline mutation(s) in |
| P3H1 | prolyl 3-hydroxylase 1 | Disease-causing germline mutation(s) in |
| CRTAP | cartilage associated protein | Disease-causing germline mutation(s) in |
| MBTPS2 | membrane bound transcription factor peptidase, site 2 | Disease-causing germline mutation(s) in |
| CREB3L1 | cAMP responsive element binding protein 3 like 1 | Disease-causing germline mutation(s) in |
| PPIB | peptidylprolyl isomerase B | Disease-causing germline mutation(s) in |
| SERPINH1 | serpin family H member 1 | Disease-causing germline mutation(s) in |
| FKBP10 | FKBP prolyl isomerase 10 | Disease-causing germline mutation(s) in |
| SERPINF1 | serpin family F member 1 | Disease-causing germline mutation(s) in |
| BMP1 | bone morphogenetic protein 1 | Disease-causing germline mutation(s) in |
| WNT1 | Wnt family member 1 | Disease-causing germline mutation(s) (loss of function) in |
| TENT5A | terminal nucleotidyltransferase 5A | Disease-causing germline mutation(s) (loss of function) in |
外部标识与链接
OrphanetOMIM:259420OMIM:259440OMIM:610682MONDO:0009804GARD:8695ICD-10 Q78.0ICD-11 LD24.K0ClinicalTrials.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）