骨硬化症及其相关疾病
Osteopetrosis and related disorders
ORPHA:2781疾病组
定义 英文原文（暂无中文）
Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.
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
- 各年龄段
- 患病率
- 1-9 / 100 000（Europe）
相关基因 18来自下位疾病
Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| AMER1 | APC membrane recruitment protein 1 | ORPHA:2780 |
| BORCS5 | BLOC-1 related complex subunit 5 | ORPHA:85179 |
| CA2 | carbonic anhydrase 2 | ORPHA:2785 |
| CLCN7 | Cl-/H+ antiporter 7 | ORPHA:667 |
| CSF1R | colony stimulating factor 1 receptor | ORPHA:556985 |
| CTNNB1 | catenin beta 1 | ORPHA:2780 |
| CTSK | cathepsin K | ORPHA:763 |
| FERMT3 | FERM domain containing kindlin 3 | ORPHA:99844 |
| IKBKG | inhibitor of nuclear factor kappa B kinase regulatory subunit gamma | ORPHA:69088 |
| LRP5 | LDL receptor related protein 5 | ORPHA:2783 |
| LRRK1 | leucine rich repeat kinase 1 | ORPHA:500548 |
| OSTM1 | osteoclastogenesis associated transmembrane protein 1 | ORPHA:667 |
| PLEKHM1 | pleckstrin homology and RUN domain containing M1 | ORPHA:210110 |
| SLC29A3 | solute carrier family 29 member 3 | ORPHA:1782 |
| SNX10 | sorting nexin 10 | ORPHA:667 |
| TCIRG1 | T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | ORPHA:1782 |
| TNFRSF11A | TNF receptor superfamily member 11a | ORPHA:1782 |
| TNFSF11 | TNF superfamily member 11 | ORPHA:667 |
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）