多发性先天异常/畸形综合征-智力障碍
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
ORPHA:102283疾病组
别名
多发性先天性畸形/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:2995 |
| ACTG1 | actin gamma 1 | ORPHA:2995 |
| ADAMTS3 | ADAM metallopeptidase with thrombospondin type 1 motif 3 | ORPHA:2136 |
| ADNP | activity dependent neuroprotector homeobox | ORPHA:404448 |
| AFF3 | ALF transcription elongation factor 3 | ORPHA:632603 |
| AFF4 | ALF transcription elongation factor 4 | ORPHA:444077 |
| AMOTL1 | angiomotin like 1 | ORPHA:660021 |
| ANKRD11 | ankyrin repeat domain 11 | ORPHA:2332 |
| ANTXR1 | ANTXR cell adhesion molecule 1 | ORPHA:2067 |
| ARID1A | AT-rich interaction domain 1A | ORPHA:1465 |
| ARID1B | AT-rich interaction domain 1B | ORPHA:1465 |
| ARID2 | AT-rich interaction domain 2 | ORPHA:1465 |
| ASXL1 | ASXL transcriptional regulator 1 | ORPHA:97297 |
| ASXL3 | ASXL transcriptional regulator 3 | ORPHA:352577 |
| ATIC | 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | ORPHA:250977 |
| AUTS2 | activator of transcription and developmental regulator AUTS2 | ORPHA:352490 |
| B3GLCT | beta 3-glucosyltransferase | ORPHA:709 |
| BRAF | B-Raf proto-oncogene, serine/threonine kinase | ORPHA:1340 |
| BRD4 | bromodomain containing 4 | ORPHA:199 |
| BRF1 | BRF1 general transcription factor IIIB subunit | ORPHA:444072 |
| C12ORF57 | chromosome 12 open reading frame 57 | ORPHA:1777 |
| C2CD3 | C2 domain containing 3 centriole elongation regulator | ORPHA:434179 |
| CCBE1 | collagen and calcium binding EGF domains 1 | ORPHA:2136 |
| CCDC22 | CCC complex scaffolding subunit CCDC22 | ORPHA:7 |
| CDC42 | cell division cycle 42 | ORPHA:487796 |
| CDH11 | cadherin 11 | ORPHA:1299 |
| CDON | cell adhesion associated, oncogene regulated | ORPHA:280200 |
| CENPF | centromere protein F | ORPHA:506307 |
| CHD1 | chromodomain helicase DNA binding protein 1 | ORPHA:529965 |
| CHRNA1 | cholinergic receptor nicotinic alpha 1 subunit | ORPHA:33108 |
| CHRND | cholinergic receptor nicotinic delta subunit | ORPHA:33108 |
| CHRNG | cholinergic receptor nicotinic gamma subunit | ORPHA:33108 |
| CKAP2L | cytoskeleton associated protein 2L | ORPHA:3255 |
| CNOT1 | CCR4-NOT transcription complex subunit 1 | ORPHA:556955 |
| CNTNAP2 | contactin associated protein 2 | ORPHA:163681 |
| COLEC10 | collectin subfamily member 10 | ORPHA:293843 |
| COLEC11 | collectin subfamily member 11 | ORPHA:293843 |
| COPB1 | coat protein complex I subunit beta 1 | ORPHA:633035 |
| CREBBP | CREB binding lysine acetyltransferase | ORPHA:353277 |
| CRIPTO | cripto, EGF-CFC family member | ORPHA:280200 |
| CTCF | CCCTC-binding factor | ORPHA:363611 |
| CTDP1 | CTD phosphatase subunit 1 | ORPHA:48431 |
| CTNNB1 | catenin beta 1 | ORPHA:404473 |
| CUL4B | cullin 4B | ORPHA:85293 |
| DCHS1 | dachsous cadherin-related 1 | ORPHA:314679 |
| DHCR7 | 7-dehydrocholesterol reductase | ORPHA:818 |
| DISP1 | dispatched RND transporter family member 1 | ORPHA:280200 |
| DLL1 | delta like canonical Notch ligand 1 | ORPHA:280200 |
| DNMT3A | DNA methyltransferase 3 alpha | ORPHA:404443 |
| DOCK7 | dedicator of cytokinesis 7 | ORPHA:411986 |
| DPF2 | double PHD fingers 2 | ORPHA:1465 |
| DPYSL5 | dihydropyrimidinase like 5 | ORPHA:7 |
| DYRK1A | dual specificity tyrosine phosphorylation regulated kinase 1A | ORPHA:464311 |
| EFTUD2 | elongation factor Tu GTP binding domain containing 2 | ORPHA:79113 |
| EHMT1 | euchromatic histone lysine methyltransferase 1 | ORPHA:261652 |
| EMC1 | ER membrane protein complex subunit 1 | ORPHA:480898 |
| EMG1 | EMG1 N1-specific pseudouridine methyltransferase | ORPHA:1270 |
| EP300 | EP300 lysine acetyltransferase | ORPHA:353284 |
| EXTL3 | exostosin like glycosyltransferase 3 | ORPHA:508533 |
| EZH2 | enhancer of zeste 2 polycomb repressive complex 2 subunit | ORPHA:3447 |
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）