先天性肌病
Congenital myopathy
ORPHA:97245疾病组
基本事实
- 患病率
- 1-9 / 100 000（United States）
相关基因 60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 |
|---|---|---|
| ACTA1 | actin alpha 1, skeletal muscle | ORPHA:2020 |
| BAG3 | BAG cochaperone 3 | ORPHA:199340 |
| BIN1 | bridging integrator 1 | ORPHA:169189 |
| CASQ1 | calsequestrin 1 | ORPHA:2593 |
| CCDC174 | coiled-coil domain containing 174 | ORPHA:467176 |
| CCDC78 | coiled-coil domain containing 78 | ORPHA:319160 |
| CFL2 | cofilin 2 | ORPHA:171436 |
| CHCHD10 | coiled-coil-helix-coiled-coil-helix domain containing 10 | ORPHA:457050 |
| CNTN1 | contactin 1 | ORPHA:210163 |
| COA5 | cytochrome c oxidase assembly factor 5 | ORPHA:1561 |
| COA6 | cytochrome c oxidase assembly factor 6 | ORPHA:1561 |
| COL12A1 | collagen type XII alpha 1 chain | ORPHA:75840 |
| COL6A1 | collagen type VI alpha 1 chain | ORPHA:75840 |
| COL6A2 | collagen type VI alpha 2 chain | ORPHA:75840 |
| COL6A3 | collagen type VI alpha 3 chain | ORPHA:75840 |
| COX15 | cytochrome c oxidase assembly factor COX15 | ORPHA:1561 |
| CRYAB | crystallin alpha B | ORPHA:280553 |
| DES | desmin | ORPHA:98909 |
| DNM2 | dynamin 2 | ORPHA:363409 |
| FHL1 | four and a half LIM domains 1 | ORPHA:97239 |
| FLNC | filamin C | ORPHA:171445 |
| GFER | growth factor, augmenter of liver regeneration | ORPHA:330054 |
| HACD1 | 3-hydroxyacyl-CoA dehydratase 1 | ORPHA:2020 |
| HADHA | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | ORPHA:746 |
| HADHB | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | ORPHA:746 |
| ITGA7 | integrin subunit alpha 7 | ORPHA:2020 |
| KBTBD13 | kelch repeat and BTB domain containing 13 | ORPHA:171439 |
| KLHL40 | kelch like family member 40 | ORPHA:171430 |
| KLHL41 | kelch like family member 41 | ORPHA:171430 |
| LDB3 | LIM domain binding 3 | ORPHA:98912 |
| LIG3 | DNA ligase 3 | ORPHA:298 |
| LMOD3 | leiomodin 3 | ORPHA:171430 |
| MAP3K20 | mitogen-activated protein kinase kinase kinase 20 | ORPHA:2020 |
| MEGF10 | multiple EGF like domains 10 | ORPHA:439212 |
| MSTO1 | misato mitochondrial distribution and morphology regulator 1 | ORPHA:502423 |
| MT-TE | mitochondrially encoded tRNA-Glu (GAA/G) | ORPHA:2596 |
| MT-TL2 | mitochondrially encoded tRNA-Leu (CUN) 2 | ORPHA:663 |
| MT-TN | mitochondrially encoded tRNA-Asn (AAU/C) | ORPHA:663 |
| MT-TS1 | mitochondrially encoded tRNA-Ser (UCN) 1 | ORPHA:663 |
| MTM1 | myotubularin 1 | ORPHA:596 |
| MYH2 | myosin heavy chain 2 | ORPHA:363677 |
| MYH7 | myosin heavy chain 7 | ORPHA:59135 |
| MYL1 | myosin light chain 1 | ORPHA:544602 |
| MYL2 | myosin light chain 2 | ORPHA:2020 |
| MYO18B | myosin XVIIIB | ORPHA:447974 |
| MYOT | myotilin | ORPHA:98911 |
| MYPN | myopalladin | ORPHA:171881 |
| NEB | nebulin | ORPHA:171430 |
| ORAI1 | ORAI calcium release-activated calcium modulator 1 | ORPHA:2593 |
| POLG | DNA polymerase gamma, catalytic subunit | ORPHA:70595 |
| PUS1 | pseudouridine synthase 1 | ORPHA:2598 |
| RNASEH1 | ribonuclease H1 | ORPHA:329336 |
| RRM2B | ribonucleotide reductase regulatory TP53 inducible subunit M2B | ORPHA:298 |
| RYR1 | ryanodine receptor 1 | ORPHA:324581 |
| SCO1 | synthesis of cytochrome C oxidase 1 | ORPHA:1561 |
| SCO2 | synthesis of cytochrome C oxidase 2 | ORPHA:1561 |
| SELENON | selenoprotein N | ORPHA:2020 |
| SPEG | striated muscle enriched protein kinase | ORPHA:169186 |
| STAC3 | SH3 and cysteine rich domain 3 | ORPHA:168572 |
| STIM1 | stromal interaction molecule 1 | ORPHA:2593 |
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）