复杂性遗传性痉挛性截瘫
Complex hereditary spastic paraplegia
ORPHA:102013疾病组
别名
复杂型遗传性痉挛性截瘫
相关基因 52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 |
|---|---|---|
| ALDH18A1 | aldehyde dehydrogenase 18 family member A1 | ORPHA:447760 |
| AMPD2 | adenosine monophosphate deaminase 2 | ORPHA:401805 |
| ARL6IP1 | ARL6 interacting reticulophagy regulator 1 | ORPHA:401780 |
| ARSI | arylsulfatase family member I | ORPHA:401815 |
| ATP13A2 | ATPase cation transporting 13A2 | ORPHA:513436 |
| B4GALNT1 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | ORPHA:101006 |
| BSCL2 | BSCL2 lipid droplet biogenesis associated, seipin | ORPHA:100998 |
| C19ORF12 | chromosome 19 open reading frame 12 | ORPHA:320370 |
| CAPN1 | calpain 1 | ORPHA:488594 |
| CCT5 | chaperonin containing TCP1 subunit 5 | ORPHA:139578 |
| DDHD2 | DDHD domain containing 2 | ORPHA:320380 |
| DSTYK | dual serine/threonine and tyrosine protein kinase | ORPHA:101003 |
| ENTPD1 | ectonucleoside triphosphate diphosphohydrolase 1 | ORPHA:401810 |
| ERLIN2 | ER lipid raft associated 2 | ORPHA:209951 |
| FA2H | fatty acid 2-hydroxylase | ORPHA:329308 |
| FLRT1 | fibronectin leucine rich transmembrane protein 1 | ORPHA:320406 |
| GBA2 | glucosylceramidase beta 2 | ORPHA:320391 |
| GJC2 | gap junction protein gamma 2 | ORPHA:320401 |
| GPT2 | glutamic--pyruvic transaminase 2 | ORPHA:477673 |
| HACE1 | HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | ORPHA:464282 |
| IBA57 | iron-sulfur cluster assembly factor IBA57 | ORPHA:468661 |
| KIDINS220 | kinase D interacting substrate 220 | ORPHA:521390 |
| KIF1C | kinesin family member 1C | ORPHA:397946 |
| KLC2 | kinesin light chain 2 | ORPHA:320406 |
| KY | kyphoscoliosis peptidase | ORPHA:496689 |
| L1CAM | L1 cell adhesion molecule | ORPHA:2466 |
| MAG | myelin associated glycoprotein | ORPHA:459056 |
| MARS1 | methionyl-tRNA synthetase 1 | ORPHA:401835 |
| MT-ATP6 | mitochondrially encoded ATP synthase membrane subunit 6 | ORPHA:320360 |
| MTRFR | mitochondrial translation release factor in rescue | ORPHA:320375 |
| NT5C2 | 5'-nucleotidase, cytosolic II | ORPHA:320396 |
| PGAP1 | post-GPI attachment to proteins inositol deacylase 1 | ORPHA:401820 |
| PNPLA6 | patatin like domain 6, lysophospholipase | ORPHA:139480 |
| RAB3GAP2 | RAB3 GTPase activating non-catalytic protein subunit 2 | ORPHA:401830 |
| SELENOI | selenoprotein I | ORPHA:506353 |
| SPART | spartin | ORPHA:101000 |
| SPG11 | SPG11 vesicle trafficking associated, spatacsin | ORPHA:2822 |
| SPG23 | spastic paraplegia 23 (autosomal recessive) | ORPHA:101003 |
| SPG24 | spastic paraplegia 24 (autosomal recessive) | ORPHA:101004 |
| SPG25 | spastic paraplegia 25 (autosomal recessive, with disc herniation) | ORPHA:101005 |
| SPG27 | spastic paraplegia 27 (autosomal recessive) | ORPHA:101007 |
| SPG29 | spastic paraplegia 29 (autosomal dominant) | ORPHA:101009 |
| SPG32 | spastic paraplegia 32 (autosomal recessive) | ORPHA:171622 |
| SPG36 | spastic paraplegia 36 (autosomal dominant) | ORPHA:320365 |
| SPG38 | spastic paraplegia 38 (autosomal dominant, Silver syndrome) | ORPHA:171617 |
| TECPR2 | tectonin beta-propeller repeat containing 2 | ORPHA:320385 |
| TFG | trafficking from ER to golgi regulator | ORPHA:431329 |
| USP8 | ubiquitin specific peptidase 8 | ORPHA:401795 |
| VCP | valosin containing protein | ORPHA:329475 |
| VPS37A | VPS37A subunit of ESCRT-I | ORPHA:319199 |
| WDR48 | WD repeat domain 48 | ORPHA:401800 |
| ZFYVE26 | zinc finger FYVE-type containing 26 | ORPHA:100996 |
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）