磷脂、鞘脂和脂肪酸生物合成障碍
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
ORPHA:352301疾病组
相关基因 23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 |
|---|---|---|
| ABHD12 | abhydrolase domain containing 12, lysophospholipase | ORPHA:171848 |
| ABHD5 | abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | ORPHA:98907 |
| AGK | acylglycerol kinase | ORPHA:1369 |
| ALDH3A2 | aldehyde dehydrogenase 3 family member A2 | ORPHA:816 |
| ATL1 | atlastin GTPase 1 | ORPHA:36386 |
| ATL3 | atlastin GTPase 3 | ORPHA:36386 |
| CERS1 | ceramide synthase 1 | ORPHA:424027 |
| CHKB | choline kinase beta | ORPHA:280671 |
| DNMT1 | DNA methyltransferase 1 | ORPHA:456318 |
| ELOVL4 | ELOVL fatty acid elongase 4 | ORPHA:352333 |
| FA2H | fatty acid 2-hydroxylase | ORPHA:329308 |
| NADK2 | NAD kinase 2, mitochondrial | ORPHA:431361 |
| PNPLA2 | patatin like domain 2, triacylglycerol lipase | ORPHA:98908 |
| PNPLA6 | patatin like domain 6, lysophospholipase | ORPHA:139480 |
| RFC1 | replication factor C subunit 1 | ORPHA:504476 |
| SELENOI | selenoprotein I | ORPHA:506353 |
| SERAC1 | serine active site containing 1 | ORPHA:352328 |
| SLC25A4 | solute carrier family 25 member 4 | ORPHA:1369 |
| SPTLC1 | serine palmitoyltransferase long chain base subunit 1 | ORPHA:36386 |
| SPTLC2 | serine palmitoyltransferase long chain base subunit 2 | ORPHA:36386 |
| ST3GAL5 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | ORPHA:370933 |
| TAFAZZIN | tafazzin, phospholipid-lysophospholipid transacylase | ORPHA:111 |
| TKFC | triokinase and FMN cyclase | ORPHA:1369 |
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）