过度生长综合征
Overgrowth syndrome
ORPHA:93460疾病组
相关基因 28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 |
|---|---|---|
| ABCC8 | ATP binding cassette subfamily C member 8 | ORPHA:276575 |
| AKT1 | AKT serine/threonine kinase 1 | ORPHA:744 |
| AKT2 | AKT serine/threonine kinase 2 | ORPHA:293964 |
| AKT3 | AKT serine/threonine kinase 3 | ORPHA:83473 |
| CCND2 | cyclin D2 | ORPHA:83473 |
| CDKN1C | cyclin dependent kinase inhibitor 1C | ORPHA:231120 |
| DICER1 | dicer 1, ribonuclease III | ORPHA:404476 |
| DIS3L2 | DIS3 like 3'-5' exoribonuclease 2 | ORPHA:2849 |
| EZH2 | enhancer of zeste 2 polycomb repressive complex 2 subunit | ORPHA:3447 |
| GCK | glucokinase | ORPHA:79299 |
| GLUD1 | glutamate dehydrogenase 1 | ORPHA:35878 |
| GPC3 | glypican 3 | ORPHA:373 |
| H19 | H19 imprinted maternally expressed transcript | ORPHA:2128 |
| HERC1 | HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | ORPHA:457359 |
| HNF1A | HNF1 homeobox A | ORPHA:324575 |
| HNF4A | hepatocyte nuclear factor 4 alpha | ORPHA:263455 |
| IDH1 | isocitrate dehydrogenase (NADP(+)) 1 | ORPHA:163634 |
| IDH2 | isocitrate dehydrogenase (NADP(+)) 2 | ORPHA:163634 |
| IGF2 | insulin like growth factor 2 | ORPHA:2128 |
| KCNJ11 | potassium inwardly rectifying channel subfamily J member 11 | ORPHA:276580 |
| KCNQ1OT1 | KCNQ1 opposite strand/antisense transcript 1 | ORPHA:2128 |
| NFIX | nuclear factor I X | ORPHA:561 |
| PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | ORPHA:168984 |
| PIK3R2 | phosphoinositide-3-kinase regulatory subunit 2 | ORPHA:83473 |
| PTEN | phosphatase and tensin homolog | ORPHA:109 |
| SLC16A1 | solute carrier family 16 member 1 | ORPHA:165991 |
| SUZ12 | SUZ12 polycomb repressive complex 2 subunit | ORPHA:3447 |
| UCP2 | uncoupling protein 2 | ORPHA:276556 |
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)