罕见遗传性共济失调
Hereditary ataxia
ORPHA:183518疾病组
相关基因 39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 |
|---|---|---|
| ABCB7 | ATP binding cassette subfamily B member 7 | ORPHA:2802 |
| AFG3L2 | AFG3 like matrix AAA peptidase subunit 2 | ORPHA:313772 |
| ANO10 | anoctamin 10 | ORPHA:284289 |
| ATM | ATM serine/threonine kinase | ORPHA:100 |
| ATP2B3 | ATPase plasma membrane Ca2+ transporting 3 | ORPHA:314978 |
| ATXN7 | ataxin 7 | ORPHA:94147 |
| CACNA1A | calcium voltage-gated channel subunit alpha1 A | ORPHA:97 |
| CACNB4 | calcium voltage-gated channel auxiliary subunit beta 4 | ORPHA:211067 |
| COQ8A | coenzyme Q8A | ORPHA:139485 |
| DNAJC3 | DnaJ heat shock protein family (Hsp40) member C3 | ORPHA:445062 |
| FMR1 | fragile X messenger ribonucleoprotein 1 | ORPHA:93256 |
| GJB1 | gap junction protein beta 1 | ORPHA:1175 |
| GLRX5 | glutaredoxin 5 | ORPHA:401866 |
| GLS | glutaminase | ORPHA:557056 |
| GRM1 | glutamate metabotropic receptor 1 | ORPHA:631095 |
| KCNA1 | potassium voltage-gated channel subfamily A member 1 | ORPHA:37612 |
| KCNJ10 | potassium inwardly rectifying channel subfamily J member 10 | ORPHA:199343 |
| KIF1C | kinesin family member 1C | ORPHA:397946 |
| MARS2 | methionyl-tRNA synthetase 2, mitochondrial | ORPHA:314603 |
| MME | membrane metalloendopeptidase | ORPHA:497764 |
| MTPAP | mitochondrial poly(A) polymerase | ORPHA:254343 |
| NKX6-2 | NK6 homeobox 2 | ORPHA:527497 |
| PEX16 | peroxisomal biogenesis factor 16 | ORPHA:642954 |
| PEX2 | peroxisomal biogenesis factor 2 | ORPHA:642965 |
| PNPLA6 | patatin like domain 6, lysophospholipase | ORPHA:1180 |
| POLR3A | RNA polymerase III subunit A | ORPHA:447896 |
| PUM1 | pumilio RNA binding family member 1 | ORPHA:642747 |
| RNF168 | ring finger protein 168 | ORPHA:420741 |
| SACS | sacsin molecular chaperone | ORPHA:98 |
| SAMD9L | sterile alpha motif domain containing 9 like | ORPHA:2585 |
| SLC1A3 | solute carrier family 1 member 3 | ORPHA:209967 |
| SLC9A1 | solute carrier family 9 member A1 | ORPHA:448251 |
| SNX14 | sorting nexin 14 | ORPHA:397709 |
| SPG7 | SPG7 matrix AAA peptidase subunit, paraplegin | ORPHA:99013 |
| SPTBN2 | spectrin beta, non-erythrocytic 2 | ORPHA:352403 |
| STUB1 | STIP1 homology and U-box containing protein 1 | ORPHA:412057 |
| SYNE1 | spectrin repeat containing nuclear envelope protein 1 | ORPHA:88644 |
| TPP1 | tripeptidyl peptidase 1 | ORPHA:284324 |
| VAMP1 | vesicle associated membrane protein 1 | ORPHA:251282 |
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）