Non-specific syndromic intellectual disability
ORPHA:528084DiseaseAutosomal dominant, Autosomal recessive, X-linked recessiveChildhood, Infancy
Ассоциированные гены114
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| ZMIZ1 | zinc finger MIZ-type containing 1 | Disease-causing germline mutation(s) in | gene with protein product | 607159 |
| PUS7 | pseudouridine synthase 7 | Disease-causing germline mutation(s) in | gene with protein product | 616261 |
| TRAPPC4 | trafficking protein particle complex subunit 4 | Disease-causing germline mutation(s) in | gene with protein product | 610971 |
| MAN2C1 | mannosidase alpha class 2C member 1 | Disease-causing germline mutation(s) in | gene with protein product | 154580 |
| BAP1 | BRCA1 associated deubiquitinase 1 | Disease-causing germline mutation(s) in | gene with protein product | 603089 |
| TRIP12 | thyroid hormone receptor interactor 12 | Disease-causing germline mutation(s) in | gene with protein product | 604506 |
| ZNF526 | zinc finger protein 526 | Disease-causing germline mutation(s) in | gene with protein product | 614387 |
| BCORL1 | BCL6 corepressor like 1 | Disease-causing germline mutation(s) in | gene with protein product | 300688 |
| CHD5 | chromodomain helicase DNA binding protein 5 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 610771 |
| PAK3 | p21 (RAC1) activated kinase 3 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 300142 |
| BRWD3 | bromodomain and WD repeat domain containing 3 | Disease-causing germline mutation(s) in | gene with protein product | 300553 |
| TBR1 | T-box brain transcription factor 1 | Disease-causing germline mutation(s) in | gene with protein product | 604616 |
| AGO1 | argonaute RISC component 1 | Disease-causing germline mutation(s) in | gene with protein product | 606228 |
| KMT2E | lysine methyltransferase 2E (inactive) | Disease-causing germline mutation(s) in | gene with protein product | 608444 |
| SVBP | small vasohibin binding protein | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 617853 |
| CERT1 | ceramide transporter 1 | Disease-causing germline mutation(s) in | gene with protein product | 604677 |
| FBXW11 | F-box and WD repeat domain containing 11 | Disease-causing germline mutation(s) in | gene with protein product | 605651 |
| ANKRD17 | ankyrin repeat domain 17 | Disease-causing germline mutation(s) in | gene with protein product | 615929 |
| EMC10 | ER membrane protein complex subunit 10 | Disease-causing germline mutation(s) in | gene with protein product | 614545 |
| SPTBN1 | spectrin beta, non-erythrocytic 1 | Disease-causing germline mutation(s) in | gene with protein product | 182790 |
| LMBRD2 | LMBR1 domain containing 2 | Disease-causing germline mutation(s) in | gene with protein product | 619490 |
| TRMT1 | tRNA methyltransferase 1 | Disease-causing germline mutation(s) in | gene with protein product | 611669 |
| CNOT1 | CCR4-NOT transcription complex subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 604917 |
| CDK8 | cyclin dependent kinase 8 | Disease-causing germline mutation(s) in | gene with protein product | 603184 |
| PGM2L1 | phosphoglucomutase 2 like 1 | Disease-causing germline mutation(s) in | gene with protein product | 611610 |
| CTR9 | CTR9 component of Paf1/RNA polymerase II complex | Disease-causing germline mutation(s) in | gene with protein product | 609366 |
| RALA | RAS like proto-oncogene A | Disease-causing germline mutation(s) in | gene with protein product | 179550 |
| NOVA2 | NOVA alternative splicing regulator 2 | Disease-causing germline mutation(s) in | gene with protein product | 601991 |
| HNRNPC | heterogeneous nuclear ribonucleoprotein C | Disease-causing germline mutation(s) in | gene with protein product | 164020 |
| ATP6V0A1 | ATPase H+ transporting V0 subunit a1 | Disease-causing germline mutation(s) in | gene with protein product | 192130 |
| TAF4 | TATA-box binding protein associated factor 4 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 601796 |
| EIF4A2 | eukaryotic translation initiation factor 4A2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 601102 |
| SCAF4 | SR-related CTD associated factor 4 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 616023 |
| CAPRIN1 | cell cycle associated protein 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 601178 |
| PPP2CA | protein phosphatase 2 catalytic subunit alpha | Disease-causing germline mutation(s) in | gene with protein product | 176915 |
| MED12L | mediator complex subunit 12L | Disease-causing germline mutation(s) in | gene with protein product | 611318 |
| TMEM222 | transmembrane protein 222 | Disease-causing germline mutation(s) in | gene with protein product | 619469 |
| OTUD5 | OTU deubiquitinase 5 | Disease-causing germline mutation(s) in | gene with protein product | 300713 |
| SIAH1 | siah E3 ubiquitin protein ligase 1 | Disease-causing germline mutation(s) in | gene with protein product | 602212 |
| RAC3 | Rac family small GTPase 3 | Disease-causing germline mutation(s) in | gene with protein product | 602050 |
| FAM50A | family with sequence similarity 50 member A | Disease-causing germline mutation(s) in | gene with protein product | 300453 |
| ZMYM2 | zinc finger MYM-type containing 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 602221 |
| AP1G1 | adaptor related protein complex 1 subunit gamma 1 | Disease-causing germline mutation(s) in | gene with protein product | 603533 |
| ATP9A | ATPase phospholipid transporting 9A | Disease-causing germline mutation(s) in | gene with protein product | 609126 |
| DOHH | deoxyhypusine hydroxylase | Disease-causing germline mutation(s) in | gene with protein product | 611262 |
| ADGRL1 | adhesion G protein-coupled receptor L1 | Disease-causing germline mutation(s) in | gene with protein product | 616416 |
| CSNK2A1 | casein kinase 2 alpha 1 | Disease-causing germline mutation(s) in | gene with protein product | 115440 |
| TNRC6B | trinucleotide repeat containing adaptor 6B | Disease-causing germline mutation(s) in | gene with protein product | 610740 |
| CUL3 | cullin 3 | Disease-causing germline mutation(s) in | gene with protein product | 603136 |
| SETD5 | SET domain containing 5 | Disease-causing germline mutation(s) in | gene with protein product | 615743 |
| SRCAP | Snf2 related CREBBP activator protein | Disease-causing germline mutation(s) in | gene with protein product | 611421 |
| RNF2 | ring finger protein 2 | Disease-causing germline mutation(s) in | gene with protein product | 608985 |
| SYNCRIP | synaptotagmin binding cytoplasmic RNA interacting protein | Disease-causing germline mutation(s) in | gene with protein product | 616686 |
| GNB2 | G protein subunit beta 2 | Disease-causing germline mutation(s) in | gene with protein product | 139390 |
| PRPF8 | pre-mRNA processing factor 8 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 607300 |
| NRCAM | neuronal cell adhesion molecule | Disease-causing germline mutation(s) in | gene with protein product | 601581 |
| H4C5 | H4 clustered histone 5 | Disease-causing germline mutation(s) in | gene with protein product | 602830 |
| TIAM1 | TIAM Rac1 associated GEF 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 600687 |
| CACNA1C | calcium voltage-gated channel subunit alpha1 C | Disease-causing germline mutation(s) in | gene with protein product | 114205 |
| WDFY3 | WD repeat and FYVE domain containing 3 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 617485 |
| GRIK2 | glutamate ionotropic receptor kainate type subunit 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 138244 |
| NTNG1 | netrin G1 | Disease-causing germline mutation(s) in | gene with protein product | 608818 |
| CNOT3 | CCR4-NOT transcription complex subunit 3 | Disease-causing germline mutation(s) in | gene with protein product | 604910 |
| UBR7 | ubiquitin protein ligase E3 component n-recognin 7 | Disease-causing germline mutation(s) in | gene with protein product | 613816 |
| WASF1 | WASP family member 1 | Disease-causing germline mutation(s) in | gene with protein product | 605035 |
| ZNF142 | zinc finger protein 142 | Disease-causing germline mutation(s) in | gene with protein product | 604083 |
| SETD1A | SET domain containing 1A, histone lysine methyltransferase | Disease-causing germline mutation(s) in | gene with protein product | 611052 |
| MADD | MAP kinase activating death domain | Disease-causing germline mutation(s) in | gene with protein product | 603584 |
| NTNG2 | netrin G2 | Disease-causing germline mutation(s) in | gene with protein product | 618689 |
| H4C3 | H4 clustered histone 3 | Disease-causing germline mutation(s) in | gene with protein product | 602827 |
| CCDC32 | coiled-coil domain containing 32 | Disease-causing germline mutation(s) in | gene with protein product | 618941 |
| PALS1 | protein associated with LIN7 1, MAGUK p55 family member | Disease-causing germline mutation(s) in | gene with protein product | 606958 |
| KDM4B | lysine demethylase 4B | Disease-causing germline mutation(s) in | gene with protein product | 609765 |
| ACTL6B | actin like 6B | Disease-causing germline mutation(s) in | gene with protein product | 612458 |
| DLG4 | discs large MAGUK scaffold protein 4 | Disease-causing germline mutation(s) in | gene with protein product | 602887 |
| DDX6 | DEAD-box helicase 6 | Disease-causing germline mutation(s) in | gene with protein product | 600326 |
| DPYSL5 | dihydropyrimidinase like 5 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 608383 |
| MED27 | mediator complex subunit 27 | Disease-causing germline mutation(s) in | gene with protein product | 605044 |
| HPDL | 4-hydroxyphenylpyruvate dioxygenase like | Disease-causing germline mutation(s) in | gene with protein product | 618994 |
| HS2ST1 | heparan sulfate 2-O-sulfotransferase 1 | Disease-causing germline mutation(s) in | gene with protein product | 604844 |
| GRIA4 | glutamate ionotropic receptor AMPA type subunit 4 | Disease-causing germline mutation(s) in | gene with protein product | 138246 |
| MED13 | mediator complex subunit 13 | Disease-causing germline mutation(s) in | gene with protein product | 603808 |
| TCF20 | transcription factor 20 | Disease-causing germline mutation(s) in | gene with protein product | 603107 |
| TCF7L2 | transcription factor 7 like 2 | Disease-causing germline mutation(s) in | gene with protein product | 602228 |
| JARID2 | jumonji and AT-rich interaction domain containing 2 | Disease-causing germline mutation(s) in | gene with protein product | 601594 |
| HUWE1 | HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Disease-causing germline mutation(s) in | gene with protein product | 300697 |
| PTPN23 | protein tyrosine phosphatase non-receptor type 23 | Disease-causing germline mutation(s) in | gene with protein product | 606584 |
| MAPK8IP3 | mitogen-activated protein kinase 8 interacting protein 3 | Disease-causing germline mutation(s) in | gene with protein product | 605431 |
| TANC2 | tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | Disease-causing germline mutation(s) in | gene with protein product | 615047 |
| EIF5A | eukaryotic translation initiation factor 5A | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 600187 |
| ZNF699 | zinc finger protein 699 | Disease-causing germline mutation(s) in | gene with protein product | 609571 |
| H4C9 | H4 clustered histone 9 | Disease-causing germline mutation(s) in | gene with protein product | 602833 |
| DOCK3 | dedicator of cytokinesis 3 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 603123 |
| NAA15 | N-alpha-acetyltransferase 15, NatA auxiliary subunit | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 608000 |
| RORA | RAR related orphan receptor A | Disease-causing germline mutation(s) in | gene with protein product | 600825 |
| RLIM | ring finger protein, LIM domain interacting | Disease-causing germline mutation(s) in | gene with protein product | 300379 |
| ACTL6A | actin like 6A | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 604958 |
| CLCN3 | chloride voltage-gated channel 3 | Disease-causing germline mutation(s) in | gene with protein product | 600580 |
| AGO2 | argonaute 2, RISC catalytic component | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 606229 |
| KAT8 | lysine acetyltransferase 8 | Disease-causing germline mutation(s) in | gene with protein product | 609912 |
| HTT | huntingtin | Disease-causing germline mutation(s) in | gene with protein product | 613004 |
| ATP2B1 | ATPase plasma membrane Ca2+ transporting 1 | Disease-causing germline mutation(s) in | gene with protein product | 108731 |
| PLXNA1 | plexin A1 | Disease-causing germline mutation(s) in | gene with protein product | 601055 |
| KMT2B | lysine methyltransferase 2B | Disease-causing germline mutation(s) in | gene with protein product | 606834 |
| PCDHGC4 | protocadherin gamma subfamily C, 4 | Disease-causing germline mutation(s) in | Disorder-associated locus | 606305 |
| CPSF3 | cleavage and polyadenylation specific factor 3 | Disease-causing germline mutation(s) in | gene with protein product | 606029 |
| MSL2 | MSL complex subunit 2 | Disease-causing germline mutation(s) in | gene with protein product | 614802 |
| UPF1 | UPF1 RNA helicase and ATPase | Disease-causing germline mutation(s) in | gene with protein product | 601430 |
| FBXO11 | F-box protein 11 | Disease-causing germline mutation(s) in | gene with protein product | 607871 |
| MYCBP2 | MYC binding protein 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 610392 |
| FBXW7 | F-box and WD repeat domain containing 7 | Disease-causing germline mutation(s) in | gene with protein product | 606278 |
| ZNF292 | zinc finger protein 292 | Disease-causing germline mutation(s) in | gene with protein product | — |
| WARS1 | tryptophanyl-tRNA synthetase 1 | Disease-causing germline mutation(s) in | gene with protein product | 191050 |
| PSMD12 | proteasome 26S subunit, non-ATPase 12 | Disease-causing germline mutation(s) in | gene with protein product | 604450 |
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)