无智力障碍的多发性先天性异常/畸形综合征
Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
ORPHA:102285疾病组
别名
多发性先天性畸形不伴智力障碍
相关基因 60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 |
|---|---|---|
| ACTB | actin beta | ORPHA:79107 |
| ADAMTS10 | ADAM metallopeptidase with thrombospondin type 1 motif 10 | ORPHA:3449 |
| ADAMTS17 | ADAM metallopeptidase with thrombospondin type 1 motif 17 | ORPHA:3449 |
| BRAF | B-Raf proto-oncogene, serine/threonine kinase | ORPHA:500 |
| BRCA1 | BRCA1 DNA repair associated | ORPHA:84 |
| BRCA2 | BRCA2 DNA repair associated | ORPHA:84 |
| BRIP1 | BRCA1 interacting DNA helicase 1 | ORPHA:84 |
| CCDC8 | coiled-coil domain containing 8 subunit of 3M complex | ORPHA:2616 |
| CCNQ | cyclin Q | ORPHA:140952 |
| CDH1 | cadherin 1 | ORPHA:1997 |
| CHRNG | cholinergic receptor nicotinic gamma subunit | ORPHA:2990 |
| COL11A1 | collagen type XI alpha 1 chain | ORPHA:560 |
| COL11A2 | collagen type XI alpha 2 chain | ORPHA:166100 |
| CRTAP | cartilage associated protein | ORPHA:2050 |
| CTNNB1 | catenin beta 1 | ORPHA:952 |
| CTNND1 | catenin delta 1 | ORPHA:1997 |
| CUL7 | cullin 7 | ORPHA:2616 |
| DACT1 | dishevelled binding antagonist of beta catenin 1 | ORPHA:857 |
| DDX11 | DEAD/H-box helicase 11 | ORPHA:280558 |
| DHODH | dihydroorotate dehydrogenase (quinone) | ORPHA:246 |
| DLX5 | distal-less homeobox 5 | ORPHA:71271 |
| EDN3 | endothelin 3 | ORPHA:897 |
| EDNRB | endothelin receptor type B | ORPHA:895 |
| EIF4A3 | eukaryotic translation initiation factor 4A3 | ORPHA:3102 |
| EPG5 | ectopic P-granules 5 autophagy tethering factor | ORPHA:1493 |
| ERBB3 | erb-b2 receptor tyrosine kinase 3 | ORPHA:137776 |
| ERCC4 | ERCC excision repair 4, endonuclease catalytic subunit | ORPHA:84 |
| ESCO2 | establishment of sister chromatid cohesion N-acetyltransferase 2 | ORPHA:2319 |
| EVC | EvC ciliary complex subunit 1 | ORPHA:952 |
| EVC2 | EvC ciliary complex subunit 2 | ORPHA:952 |
| EYA1 | EYA transcriptional coactivator and phosphatase 1 | ORPHA:107 |
| FAAP100 | FA core complex associated protein 100 | ORPHA:84 |
| FANCA | FA complementation group A | ORPHA:84 |
| FANCB | FA complementation group B | ORPHA:84 |
| FANCC | FA complementation group C | ORPHA:84 |
| FANCD2 | FA complementation group D2 | ORPHA:84 |
| FANCE | FA complementation group E | ORPHA:84 |
| FANCF | FA complementation group F | ORPHA:84 |
| FANCG | FA complementation group G | ORPHA:84 |
| FANCI | FA complementation group I | ORPHA:84 |
| FANCL | FA complementation group L | ORPHA:84 |
| FANCM | FA complementation group M | ORPHA:84 |
| FBN1 | fibrillin 1 | ORPHA:3449 |
| FGF10 | fibroblast growth factor 10 | ORPHA:2363 |
| FGFR2 | fibroblast growth factor receptor 2 | ORPHA:1555 |
| FGFR3 | fibroblast growth factor receptor 3 | ORPHA:2363 |
| FOXC1 | forkhead box C1 | ORPHA:782 |
| FRAS1 | Fraser extracellular matrix complex subunit 1 | ORPHA:2052 |
| FREM1 | FRAS1 related extracellular matrix 1 | ORPHA:217266 |
| FREM2 | FRAS1 related extracellular matrix 2 | ORPHA:2052 |
| GLE1 | GLE1 RNA export mediator | ORPHA:1486 |
| GPC4 | glypican 4 | ORPHA:2662 |
| GRHL3 | grainyhead like transcription factor 3 | ORPHA:888 |
| GRIP1 | glutamate receptor interacting protein 1 | ORPHA:2052 |
| GSC | goosecoid homeobox | ORPHA:397623 |
| HAAO | 3-hydroxyanthranilate 3,4-dioxygenase | ORPHA:521438 |
| HOXA13 | homeobox A13 | ORPHA:2438 |
| HSPA9 | heat shock protein family A (Hsp70) member 9 | ORPHA:496751 |
| INSR | insulin receptor | ORPHA:508 |
| IRF6 | interferon regulatory factor 6 | ORPHA:888 |
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）