肢带肌营养不良
Limb-girdle muscular dystrophy
ORPHA:263疾病组
定义 英文原文（暂无中文）
Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.
别名
LGMD
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性
- 发病年龄
- 各年龄段
- 患病率
- 1-9 / 1 000 000（Netherlands）
相关基因 30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 |
|---|---|---|
| ANO5 | anoctamin 5 | ORPHA:206549 |
| CAPN3 | calpain 3 | ORPHA:267 |
| CRPPA | CDP-L-ribitol pyrophosphorylase A | ORPHA:352479 |
| DAG1 | dystroglycan 1 | ORPHA:280333 |
| DNAJB6 | DnaJ heat shock protein family (Hsp40) member B6 | ORPHA:34516 |
| DYSF | dysferlin | ORPHA:268 |
| FKRP | fukutin related protein | ORPHA:34515 |
| FKTN | fukutin | ORPHA:206554 |
| GMPPB | GDP-mannose pyrophosphorylase B | ORPHA:363623 |
| HMGCR | 3-hydroxy-3-methylglutaryl-CoA reductase | ORPHA:653725 |
| HNRNPDL | heterogeneous nuclear ribonucleoprotein D like | ORPHA:55596 |
| LAMA2 | laminin subunit alpha 2 | ORPHA:565837 |
| MYOT | myotilin | ORPHA:98911 |
| PLEC | plectin | ORPHA:257 |
| POGLUT1 | protein O-glucosyltransferase 1 | ORPHA:480682 |
| POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | ORPHA:206564 |
| POMK | protein O-mannose kinase | ORPHA:445110 |
| POMT1 | protein O-mannosyltransferase 1 | ORPHA:86812 |
| POMT2 | protein O-mannosyltransferase 2 | ORPHA:206559 |
| POPDC1 | popeye domain cAMP effector 1 | ORPHA:476084 |
| SGCA | sarcoglycan alpha | ORPHA:62 |
| SGCB | sarcoglycan beta | ORPHA:119 |
| SGCD | sarcoglycan delta | ORPHA:219 |
| SGCG | sarcoglycan gamma | ORPHA:353 |
| TCAP | titin-cap | ORPHA:34514 |
| TNPO3 | transportin 3 | ORPHA:55595 |
| TOR1AIP1 | torsin 1A interacting protein 1 | ORPHA:424261 |
| TRAPPC11 | trafficking protein particle complex subunit 11 | ORPHA:369840 |
| TRIM32 | tripartite motif containing 32 | ORPHA:1878 |
| TTN | titin | ORPHA:140922 |
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）