X连锁非综合征性智力障碍
X-linked non-syndromic intellectual disability
ORPHA:777疾病亚型
基本事实
- 遗传方式
- X 连锁隐性
- 发病年龄
- 儿童期、婴儿期
相关基因 30
| 基因 | 名称 | 关联类型 |
|---|---|---|
| ACSL4 | acyl-CoA synthetase long chain family member 4 | Disease-causing germline mutation(s) in |
| RPS6KA3 | ribosomal protein S6 kinase A3 | Disease-causing germline mutation(s) in |
| DMD | dystrophin | Disease-causing germline mutation(s) in |
| ARX | aristaless related homeobox | Disease-causing germline mutation(s) in |
| FTSJ1 | FtsJ RNA 2'-O-methyltransferase 1 | Disease-causing germline mutation(s) (loss of function) in |
| GDI1 | GDP dissociation inhibitor 1 | Disease-causing germline mutation(s) in |
| MECP2 | methyl-CpG binding protein 2 | Disease-causing germline mutation(s) in |
| MED12 | mediator complex subunit 12 | Candidate gene tested in |
| UPF3B | UPF3B regulator of nonsense mediated mRNA decay | Disease-causing germline mutation(s) in |
| AGTR2 | angiotensin II receptor type 2 | Disease-causing germline mutation(s) in |
| DLG3 | discs large MAGUK scaffold protein 3 | Disease-causing germline mutation(s) in |
| IL1RAPL1 | interleukin 1 receptor accessory protein like 1 | Disease-causing germline mutation(s) in |
| CASK | calcium/calmodulin dependent serine protein kinase | Disease-causing germline mutation(s) in |
| TSPAN7 | tetraspanin 7 | Disease-causing germline mutation(s) in |
| ARHGEF6 | Rac/Cdc42 guanine nucleotide exchange factor 6 | Disease-causing germline mutation(s) in |
| ZNF81 | zinc finger protein 81 | Disease-causing germline mutation(s) in |
| RAB39B | RAB39B, member RAS oncogene family | Disease-causing germline mutation(s) (loss of function) in |
| SYP | synaptophysin | Disease-causing germline mutation(s) in |
| ZNF711 | ZFX family zinc finger ZNF711 | Disease-causing germline mutation(s) in |
| HCFC1 | host cell factor C1 | Disease-causing germline mutation(s) in |
| ALG13 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Disease-causing germline mutation(s) in |
| MID2 | midline 2 | Disease-causing germline mutation(s) in |
| PTCHD1 | patched domain containing 1 | Candidate gene tested in |
| USP9X | ubiquitin specific peptidase 9 X-linked | Disease-causing germline mutation(s) (loss of function) in |
| CNKSR2 | connector enhancer of kinase suppressor of Ras 2 | Disease-causing germline mutation(s) in |
| CLCN4 | Cl-/H+ antiporter 4 | Disease-causing germline mutation(s) in |
| FRMPD4 | FERM and PDZ domain containing 4 | Disease-causing germline mutation(s) in |
| USP27X | ubiquitin specific peptidase 27 X-linked | Disease-causing germline mutation(s) in |
| SLC9A7 | solute carrier family 9 member A7 | Disease-causing germline mutation(s) in |
| STEEP1 | STING1 ER exit protein 1 | Disease-causing germline mutation(s) in |
外部标识与链接
OrphanetOMIM:300046OMIM:300047OMIM:300062MONDO:0019181ICD-10 F70、F71、F72、F73ICD-11 LD90.YClinicalTrials.gov 检索
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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）