X-linked non-syndromic intellectual disability
ORPHA:777Etiological subtypeX-linked recessiveChildhood, Infancy
Ассоциированные гены30
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| STEEP1 | STING1 ER exit protein 1 | Disease-causing germline mutation(s) in | gene with protein product | 301012 |
| CASK | calcium/calmodulin dependent serine protein kinase | Disease-causing germline mutation(s) in | gene with protein product | 300172 |
| RPS6KA3 | ribosomal protein S6 kinase A3 | Disease-causing germline mutation(s) in | gene with protein product | 300075 |
| ARX | aristaless related homeobox | Disease-causing germline mutation(s) in | gene with protein product | 300382 |
| DMD | dystrophin | Disease-causing germline mutation(s) in | gene with protein product | 300377 |
| FTSJ1 | FtsJ RNA 2'-O-methyltransferase 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 300499 |
| GDI1 | GDP dissociation inhibitor 1 | Disease-causing germline mutation(s) in | gene with protein product | 300104 |
| MED12 | mediator complex subunit 12 | Candidate gene tested in | gene with protein product | 300188 |
| UPF3B | UPF3B regulator of nonsense mediated mRNA decay | Disease-causing germline mutation(s) in | gene with protein product | 300298 |
| AGTR2 | angiotensin II receptor type 2 | Disease-causing germline mutation(s) in | gene with protein product | 300034 |
| DLG3 | discs large MAGUK scaffold protein 3 | Disease-causing germline mutation(s) in | gene with protein product | 300189 |
| IL1RAPL1 | interleukin 1 receptor accessory protein like 1 | Disease-causing germline mutation(s) in | gene with protein product | 300206 |
| TSPAN7 | tetraspanin 7 | Disease-causing germline mutation(s) in | gene with protein product | 300096 |
| ARHGEF6 | Rac/Cdc42 guanine nucleotide exchange factor 6 | Disease-causing germline mutation(s) in | gene with protein product | 300267 |
| ZNF81 | zinc finger protein 81 | Disease-causing germline mutation(s) in | gene with protein product | 314998 |
| SYP | synaptophysin | Disease-causing germline mutation(s) in | gene with protein product | 313475 |
| ZNF711 | zinc finger protein 711 | Disease-causing germline mutation(s) in | gene with protein product | 314990 |
| RAB39B | RAB39B, member RAS oncogene family | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 300774 |
| HCFC1 | host cell factor C1 | Disease-causing germline mutation(s) in | gene with protein product | 300019 |
| ALG13 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Disease-causing germline mutation(s) in | gene with protein product | 300776 |
| MID2 | midline 2 | Disease-causing germline mutation(s) in | gene with protein product | 300204 |
| PTCHD1 | patched domain containing 1 | Candidate gene tested in | gene with protein product | 300828 |
| USP9X | ubiquitin specific peptidase 9 X-linked | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 300072 |
| ACSL4 | acyl-CoA synthetase long chain family member 4 | Disease-causing germline mutation(s) in | gene with protein product | 300157 |
| MECP2 | methyl-CpG binding protein 2 | Disease-causing germline mutation(s) in | gene with protein product | 300005 |
| SLC9A7 | solute carrier family 9 member A7 | Disease-causing germline mutation(s) in | gene with protein product | 300368 |
| CNKSR2 | connector enhancer of kinase suppressor of Ras 2 | Disease-causing germline mutation(s) in | gene with protein product | 300724 |
| FRMPD4 | FERM and PDZ domain containing 4 | Disease-causing germline mutation(s) in | gene with protein product | 300838 |
| USP27X | ubiquitin specific peptidase 27 X-linked | Disease-causing germline mutation(s) in | gene with protein product | 300975 |
| CLCN4 | chloride voltage-gated channel 4 | Disease-causing germline mutation(s) in | gene with protein product | 302910 |
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)