Autosomal recessive non-syndromic intellectual disability
ORPHA:88616Etiological subtypeAutosomal recessiveChildhood, Infancy
Ассоциированные гены54
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| DCPS | decapping enzyme, scavenger | Disease-causing germline mutation(s) in | gene with protein product | 610534 |
| B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Disease-causing germline mutation(s) in | gene with protein product | 610194 |
| IMPA1 | inositol monophosphatase 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 602064 |
| ABCA2 | ATP binding cassette subfamily A member 2 | Disease-causing germline mutation(s) in | gene with protein product | 600047 |
| CHKA | choline kinase alpha | Disease-causing germline mutation(s) in | gene with protein product | 118491 |
| GRIA1 | glutamate ionotropic receptor AMPA type subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 138248 |
| CEP104 | centrosomal protein 104 | Disease-causing germline mutation(s) in | gene with protein product | 616690 |
| GRIN1 | glutamate ionotropic receptor NMDA type subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 138249 |
| AIMP1 | aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 603605 |
| CRBN | cereblon | Disease-causing germline mutation(s) in | gene with protein product | 609262 |
| TUSC3 | tumor suppressor candidate 3 | Disease-causing germline mutation(s) in | gene with protein product | 601385 |
| TECR | trans-2,3-enoyl-CoA reductase | Disease-causing germline mutation(s) in | gene with protein product | 610057 |
| GRIK2 | glutamate ionotropic receptor kainate type subunit 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 138244 |
| WASHC4 | WASH complex subunit 4 | Disease-causing germline mutation(s) in | gene with protein product | 615748 |
| TRAPPC9 | trafficking protein particle complex subunit 9 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 611966 |
| PRSS12 | serine protease 12 | Disease-causing germline mutation(s) in | gene with protein product | 606709 |
| MED23 | mediator complex subunit 23 | Disease-causing germline mutation(s) in | gene with protein product | 605042 |
| CRADD | CARD and death domain containing adaptor protein | Disease-causing germline mutation(s) in | gene with protein product | 603454 |
| ZC3H14 | zinc finger CCCH-type containing 14 | Disease-causing germline mutation(s) in | gene with protein product | 613279 |
| NSUN2 | NOP2/Sun RNA methyltransferase 2 | Disease-causing germline mutation(s) in | gene with protein product | 610916 |
| LINS1 | lines homolog 1 | Disease-causing germline mutation(s) in | gene with protein product | 610350 |
| PGAP1 | post-GPI attachment to proteins inositol deacylase 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 611655 |
| METTL23 | methyltransferase 23, arginine | Disease-causing germline mutation(s) in | gene with protein product | 615262 |
| CLIP1 | CAP-Gly domain containing linker protein 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 179838 |
| FBXO31 | F-box protein 31 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 609102 |
| NDST1 | N-deacetylase and N-sulfotransferase 1 | Disease-causing germline mutation(s) in | gene with protein product | 600853 |
| FMN2 | formin 2 | Disease-causing germline mutation(s) in | gene with protein product | 606373 |
| EDC3 | enhancer of mRNA decapping 3 | Disease-causing germline mutation(s) in | gene with protein product | 609842 |
| HNMT | histamine N-methyltransferase | Disease-causing germline mutation(s) in | gene with protein product | 605238 |
| EZR | ezrin | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 123900 |
| LMAN2L | lectin, mannose binding 2 like | Disease-causing germline mutation(s) in | gene with protein product | 609552 |
| NEMF | nuclear export mediator factor | Disease-causing germline mutation(s) in | gene with protein product | 608378 |
| GRM7 | glutamate metabotropic receptor 7 | Disease-causing germline mutation(s) in | gene with protein product | 604101 |
| IQSEC1 | IQ motif and Sec7 domain ArfGEF 1 | Disease-causing germline mutation(s) in | gene with protein product | 610166 |
| TNIK | TRAF2 and NCK interacting kinase | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 610005 |
| NCDN | neurochondrin | Disease-causing germline mutation(s) in | gene with protein product | 608458 |
| UBE4A | ubiquitination factor E4A | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 603753 |
| TTC5 | tetratricopeptide repeat domain 5 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 619014 |
| PIGC | phosphatidylinositol glycan anchor biosynthesis class C | Disease-causing germline mutation(s) in | gene with protein product | 601730 |
| SLC45A1 | solute carrier family 45 member 1 | Disease-causing germline mutation(s) in | gene with protein product | 605763 |
| GEMIN5 | gem nuclear organelle associated protein 5 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 607005 |
| FRRS1L | ferric chelate reductase 1 like | Disease-causing germline mutation(s) in | gene with protein product | 604574 |
| ALKBH8 | alkB homolog 8, tRNA methyltransferase | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 613306 |
| MBOAT7 | membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 606048 |
| FERRY3 | FERRY endosomal RAB5 effector complex subunit 3 | Disease-causing germline mutation(s) in | gene with protein product | 616082 |
| SARS1 | seryl-tRNA synthetase 1 | Disease-causing germline mutation(s) in | gene with protein product | 607529 |
| RSRC1 | arginine and serine rich coiled-coil 1 | Disease-causing germline mutation(s) in | gene with protein product | 613352 |
| MED25 | mediator complex subunit 25 | Disease-causing germline mutation(s) in | gene with protein product | 610197 |
| NAA20 | N-alpha-acetyltransferase 20, NatB catalytic subunit | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 610833 |
| CC2D1A | coiled-coil and C2 domain containing 1A | Disease-causing germline mutation(s) in | gene with protein product | 610055 |
| MAN1B1 | mannosidase alpha class 1B member 1 | Disease-causing germline mutation(s) in | gene with protein product | 604346 |
| TPR | translocated promoter region, nuclear basket protein | Disease-causing germline mutation(s) in | gene with protein product | 189940 |
| KDM5B | lysine demethylase 5B | Disease-causing germline mutation(s) in | gene with protein product | 605393 |
| EEF1B2 | eukaryotic translation elongation factor 1 beta 2 | Disease-causing germline mutation(s) in | gene with protein product | 600655 |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)