遗传性视神经病变
Hereditary optic neuropathy
ORPHA:98671疾病组
相关基因 27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 |
|---|---|---|
| ALPK1 | alpha kinase 1 | ORPHA:313800 |
| ATP1A3 | ATPase Na+/K+ transporting subunit alpha 3 | ORPHA:1171 |
| CA2 | carbonic anhydrase 2 | ORPHA:2785 |
| CLCN7 | Cl-/H+ antiporter 7 | ORPHA:667 |
| DNAJC30 | DnaJ heat shock protein family (Hsp40) member C30 | ORPHA:104 |
| DNM1L | dynamin 1 like | ORPHA:98673 |
| FERMT3 | FERM domain containing kindlin 3 | ORPHA:99844 |
| MT-ATP6 | mitochondrially encoded ATP synthase membrane subunit 6 | ORPHA:104 |
| MT-CO3 | mitochondrially encoded cytochrome c oxidase III | ORPHA:104 |
| MT-CYB | mitochondrially encoded cytochrome b | ORPHA:104 |
| MT-ND1 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | ORPHA:104 |
| MT-ND2 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | ORPHA:104 |
| MT-ND4 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | ORPHA:104 |
| MT-ND4L | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | ORPHA:104 |
| MT-ND5 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | ORPHA:104 |
| MT-ND6 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | ORPHA:104 |
| NDUFS2 | NADH:ubiquinone oxidoreductase core subunit S2 | ORPHA:104 |
| OPA1 | OPA1 mitochondrial dynamin like GTPase | ORPHA:98673 |
| OPA3 | outer mitochondrial membrane lipid metabolism regulator OPA3 | ORPHA:67036 |
| OSTM1 | osteoclastogenesis associated transmembrane protein 1 | ORPHA:667 |
| PLEKHM1 | pleckstrin homology and RUN domain containing M1 | ORPHA:210110 |
| PPIB | peptidylprolyl isomerase B | ORPHA:98673 |
| SLC38A8 | solute carrier family 38 member 8 | ORPHA:397618 |
| SNX10 | sorting nexin 10 | ORPHA:667 |
| TCIRG1 | T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | ORPHA:667 |
| TNFRSF11A | TNF receptor superfamily member 11a | ORPHA:178389 |
| TNFSF11 | TNF superfamily member 11 | ORPHA:667 |
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）