OMG
gene geneOn this page
Also known as OMGP
Summary
OMG (oligodendrocyte myelin glycoprotein, HGNC:8135) is a protein-coding gene on chromosome 17q11.2, encoding Oligodendrocyte-myelin glycoprotein (P23515). Cell adhesion molecule contributing to the interactive process required for myelination in the central nervous system.
Predicted to enable identical protein binding activity. Predicted to be involved in neuron projection regeneration. Predicted to act upstream of or within regulation of collateral sprouting of intact axon in response to injury. Predicted to be located in plasma membrane.
Source: NCBI Gene 4974 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 4 total — 1 pathogenic
- MANE Select transcript:
NM_002544
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:8135 |
| Approved symbol | OMG |
| Name | oligodendrocyte myelin glycoprotein |
| Location | 17q11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | OMGP |
| Ensembl gene | ENSG00000126861 |
| Ensembl biotype | protein_coding |
| OMIM | 164345 |
| Entrez | 4974 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 2 protein_coding_CDS_not_defined, 1 protein_coding, 1 retained_intron
ENST00000247271, ENST00000580156, ENST00000582029, ENST00000584094
RefSeq mRNA: 1 — MANE Select: NM_002544
NM_002544
CCDS: CCDS11265
Canonical transcript exons
ENST00000247271 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001265045 | 31297156 | 31297239 |
| ENSE00001308281 | 31294647 | 31296337 |
Expression profiles
Bgee: expression breadth ubiquitous, 215 present calls, max score 98.98.
FANTOM5 (CAGE): breadth broad, TPM avg 11.5029 / max 976.9348, expressed in 383 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 165215 | 5.6822 | 108 |
| 165214 | 3.3672 | 98 |
| 165206 | 1.9223 | 272 |
| 165216 | 0.3424 | 83 |
| 165210 | 0.0638 | 19 |
| 165211 | 0.0591 | 10 |
| 165213 | 0.0432 | 7 |
| 165212 | 0.0228 | 9 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| olfactory segment of nasal mucosa | UBERON:0005386 | 98.98 | gold quality |
| bronchial epithelial cell | CL:0002328 | 98.80 | gold quality |
| postcentral gyrus | UBERON:0002581 | 98.34 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 98.30 | gold quality |
| pons | UBERON:0000988 | 98.24 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 98.17 | gold quality |
| corpus callosum | UBERON:0002336 | 98.09 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 98.01 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 97.92 | gold quality |
| parietal lobe | UBERON:0001872 | 97.89 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 97.88 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 97.82 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 97.68 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 97.60 | gold quality |
| entorhinal cortex | UBERON:0002728 | 97.59 | gold quality |
| inferior olivary complex | UBERON:0002127 | 97.54 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 97.53 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 97.08 | gold quality |
| prefrontal cortex | UBERON:0000451 | 97.06 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 97.02 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 97.01 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 96.98 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 96.86 | gold quality |
| Ammon’s horn | UBERON:0001954 | 96.83 | gold quality |
| medulla oblongata | UBERON:0001896 | 96.77 | gold quality |
| temporal lobe | UBERON:0001871 | 96.65 | gold quality |
| endothelial cell | CL:0000115 | 96.63 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 96.63 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 96.62 | gold quality |
| caudate nucleus | UBERON:0001873 | 96.43 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-114 | yes | 63.68 |
| E-HCAD-1 | yes | 26.90 |
| E-MTAB-10287 | yes | 25.47 |
| E-GEOD-84465 | yes | 22.17 |
| E-GEOD-93593 | yes | 4.58 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
55 targeting OMG, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-4760-5P | 99.80 | 69.88 | 1619 |
| HSA-MIR-4645-3P | 99.76 | 69.33 | 993 |
| HSA-MIR-3617-5P | 99.75 | 69.41 | 1968 |
| HSA-MIR-641 | 99.75 | 69.35 | 1975 |
| HSA-MIR-4446-5P | 99.72 | 69.19 | 2544 |
| HSA-MIR-5580-3P | 99.70 | 69.41 | 2052 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-646 | 99.68 | 67.84 | 1645 |
| HSA-MIR-561-3P | 99.64 | 70.90 | 3647 |
Literature-anchored findings (GeneRIF, showing 3)
- novel mutations and novel polymorphisms in coding regions and 5’UTR were detected in patients with with non-syndromic mental retardation (PMID:16425041)
- Data show that oligodendrocyte-myelin glycoprotein is downregulated in schizophrenia anterior temporal lobe revealed by shotgun proteome analysis. (PMID:19034380)
- The results do not support a relationship between the OMGP gene and the learning disability phenotype observed in neurofibromatosis type 1. (PMID:21534343)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | omga | ENSDARG00000086573 |
| danio_rerio | omgb | ENSDARG00000089444 |
| mus_musculus | Omg | ENSMUSG00000049612 |
| rattus_norvegicus | Omg | ENSRNOG00000082212 |
Paralogs (10): EPYC (ENSG00000083782), OGN (ENSG00000106809), ECM2 (ENSG00000106823), FMOD (ENSG00000122176), OMD (ENSG00000127083), LUM (ENSG00000139329), KERA (ENSG00000139330), PRELP (ENSG00000188783), LINGO4 (ENSG00000213171), LINGO3 (ENSG00000220008)
Protein
Protein identifiers
Oligodendrocyte-myelin glycoprotein — P23515 (reviewed: P23515)
All UniProt accessions (1): P23515
UniProt curated annotations — full annotation on UniProt →
Function. Cell adhesion molecule contributing to the interactive process required for myelination in the central nervous system.
Subunit / interactions. Binds to RTN4R.
Subcellular location. Cell membrane.
Tissue specificity. Oligodendrocytes and myelin of the central nervous system.
Post-translational modifications. O-glycosylated in its Ser/Thr-rich repeat domain.
RefSeq proteins (1): NP_002535* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000372 | LRRNT | Domain |
| IPR001611 | Leu-rich_rpt | Repeat |
| IPR003591 | Leu-rich_rpt_typical-subtyp | Repeat |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
| IPR051071 | LRR-bact_E3_ubiq_ligases | Family |
Pfam: PF00560, PF01462, PF13855
UniProt features (31 total): repeat 13, glycosylation site 11, sequence variant 2, signal peptide 1, chain 1, lipid moiety-binding region 1, propeptide 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P23515-F1 | 67.94 | 0.47 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 417
Glycosylation sites (11): 45, 61, 103, 152, 176, 189, 192, 234, 364, 389, 425
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-193634 | Axonal growth inhibition (RHOA activation) |
MSigDB gene sets: 169 (showing top):
AP1_01, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_REGENERATION, GOBP_NEUROGENESIS, AAAYRNCTG_UNKNOWN, CAGCTG_AP4_Q5, chr17q11, MODULE_66, AP1_Q4_01, MYOD_01, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, TGCTGAY_UNKNOWN, WTGAAAT_UNKNOWN, OCT1_06
GO Biological Process (2): cell adhesion (GO:0007155), neuron projection regeneration (GO:0031102)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (3): plasma membrane (GO:0005886), side of membrane (GO:0098552), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| p75NTR regulates axonogenesis | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| membrane | 2 |
| cellular anatomical structure | 2 |
| cellular process | 1 |
| regeneration | 1 |
| neuron projection development | 1 |
| cellular response to stress | 1 |
| binding | 1 |
| cell periphery | 1 |
| leaflet of membrane bilayer | 1 |
Protein interactions and networks
STRING
1478 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| OMG | RTN4R | Q9BZR6 | 990 |
| OMG | MAG | P20916 | 983 |
| OMG | RTN4 | Q9NQC3 | 981 |
| OMG | TNFRSF19 | Q9NS68 | 942 |
| OMG | NGFR | P08138 | 883 |
| OMG | EVI2A | P22794 | 869 |
| OMG | EVI2B | P34910 | 857 |
| OMG | LINGO1 | Q96FE5 | 750 |
| OMG | RHOA | P06749 | 704 |
| OMG | NF1 | P21359 | 696 |
| OMG | PTPRS | Q13332 | 694 |
| OMG | RTN4RL1 | Q86UN2 | 692 |
| OMG | LILRB2 | Q8N423 | 669 |
| OMG | MBP | P02686 | 631 |
| OMG | BDNF | P23560 | 629 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| OMG | psi-mi:“MI:0915”(physical association) | 0.370 | |
| NEK4 | E2F8 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | LANCL1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (11): OMG (Affinity Capture-MS), OMG (Affinity Capture-MS), OMG (Affinity Capture-MS), OMG (Reconstituted Complex), OMG (Affinity Capture-MS), PTPRU (Reconstituted Complex), PTPRD (Reconstituted Complex), PTPRF (Reconstituted Complex), PTPRS (Reconstituted Complex), OMG (Affinity Capture-MS), OMG (Affinity Capture-MS)
ESM2 similar proteins: A0A1Z2R986, A5D7U1, A6NHS7, F5H9T4, O02671, P11322, P15137, P15139, P16721, P16743, P20826, P21581, P21583, P22596, P23515, P35767, P35768, P35769, P35770, P40200, P48357, P79169, P79368, Q06220, Q28132, Q29030, Q3U0X8, Q5BK49, Q5HZW7, Q5W9T8, Q5XI99, Q62959, Q63912, Q66608, Q6SWB9, Q6SWC3, Q6SWC9, Q6UC88, Q6UQ28, Q7TST5
Diamond homologs: A2ARI4, A3KNN3, A4IFA6, A6H789, A6H793, A6NJW4, A8WHP9, D4AC13, E5DHB5, E7FE13, F1MLX5, F1MT22, F7D3V9, G5EFX6, O00206, O02833, O14498, O35367, O35930, O46378, O46379, O46542, O62702, O75093, O75473, O88279, O88280, O94769, O94898, P07359, P07585, P0DKB5, P0DM44, P21793, P23515, P24014, P28675, P51885, P51886, P51890
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| OMG | up-regulates | LINGO1 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
4 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 1 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2422716 | NC_000017.10:g.(?29422328)(29677356_?)del | Pathogenic |
SpliceAI
499 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:31297154:A:AC | donor_gain | 1.0000 |
| 17:31297155:C:CC | donor_gain | 1.0000 |
| 17:31286857:A:AG | acceptor_gain | 0.9900 |
| 17:31286857:AAT:A | acceptor_gain | 0.9900 |
| 17:31297150:TCTTA:T | donor_loss | 0.9900 |
| 17:31297151:CTTAC:C | donor_loss | 0.9900 |
| 17:31297152:TTAC:T | donor_loss | 0.9900 |
| 17:31297153:TA:T | donor_loss | 0.9900 |
| 17:31297154:A:AG | donor_loss | 0.9900 |
| 17:31297155:C:CG | donor_loss | 0.9900 |
| 17:31286893:G:GC | acceptor_gain | 0.9800 |
| 17:31286859:T:TA | acceptor_gain | 0.9700 |
| 17:31296338:C:CC | acceptor_gain | 0.9600 |
| 17:31297154:AC:A | donor_gain | 0.9600 |
| 17:31297155:CC:C | donor_gain | 0.9600 |
| 17:31296335:AGCC:A | acceptor_loss | 0.9400 |
| 17:31296337:CCTA:C | acceptor_loss | 0.9400 |
| 17:31296338:CTAG:C | acceptor_loss | 0.9400 |
| 17:31296339:T:G | acceptor_loss | 0.9400 |
| 17:31297149:ATCTT:A | donor_loss | 0.9400 |
| 17:31297155:CCGTG:C | donor_gain | 0.9400 |
| 17:31286857:AATG:A | acceptor_gain | 0.9300 |
| 17:31286859:T:G | acceptor_gain | 0.9300 |
| 17:31296346:A:T | acceptor_loss | 0.9200 |
| 17:31296349:C:CT | acceptor_loss | 0.9200 |
| 17:31296350:A:T | acceptor_loss | 0.9200 |
| 17:31277332:T:G | acceptor_gain | 0.9100 |
| 17:31296352:A:C | acceptor_loss | 0.9100 |
| 17:31277320:T:A | acceptor_gain | 0.9000 |
| 17:31296245:T:TC | acceptor_gain | 0.9000 |
AlphaMissense
2907 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:31295651:C:A | W227C | 0.999 |
| 17:31295651:C:G | W227C | 0.999 |
| 17:31295653:A:G | W227R | 0.999 |
| 17:31295653:A:T | W227R | 0.999 |
| 17:31295724:A:G | F203S | 0.999 |
| 17:31295729:A:C | N201K | 0.999 |
| 17:31295729:A:T | N201K | 0.999 |
| 17:31295731:T:A | N201Y | 0.999 |
| 17:31295801:A:C | N177K | 0.999 |
| 17:31295801:A:T | N177K | 0.999 |
| 17:31295811:A:G | L174P | 0.999 |
| 17:31295874:A:G | L153P | 0.999 |
| 17:31295949:A:G | L128P | 0.999 |
| 17:31296005:G:C | N109K | 0.999 |
| 17:31296005:G:T | N109K | 0.999 |
| 17:31296137:G:C | N65K | 0.999 |
| 17:31296137:G:T | N65K | 0.999 |
| 17:31296147:A:G | L62P | 0.999 |
| 17:31296153:A:G | L60S | 0.999 |
| 17:31296209:A:C | C41W | 0.999 |
| 17:31296210:C:G | C41S | 0.999 |
| 17:31296211:A:G | C41R | 0.999 |
| 17:31296211:A:T | C41S | 0.999 |
| 17:31295609:C:A | W241C | 0.998 |
| 17:31295609:C:G | W241C | 0.998 |
| 17:31295657:G:C | N225K | 0.998 |
| 17:31295657:G:T | N225K | 0.998 |
| 17:31295659:T:A | N225Y | 0.998 |
| 17:31295730:T:A | N201I | 0.998 |
| 17:31295739:A:G | L198P | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000286742 (17:31296575 C>G), RS1000343494 (17:31296209 A>G), RS1000746571 (17:31297371 G>C), RS1001963161 (17:31294375 T>C), RS1002021814 (17:31295542 G>A), RS1003247659 (17:31298616 A>G), RS1004358292 (17:31294281 T>A,C), RS1005149167 (17:31298544 A>G,T), RS1006265289 (17:31298880 T>C), RS1006465219 (17:31298646 G>T), RS1006823712 (17:31296989 A>G,T), RS1006937888 (17:31295446 T>C,G), RS1007157397 (17:31294968 C>G), RS1008489189 (17:31294917 A>G), RS1010271652 (17:31297020 A>G)
Disease associations
OMIM: gene MIM:164345 | disease phenotypes: MIM:162200
GenCC curated gene-disease
Mondo (1): neurofibromatosis type 1 (MONDO:0018975)
Orphanet (1): Neurofibromatosis type 1 (Orphanet:636)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006479_83 | Diverticular disease | 3.000000e-06 |
| GCST010135_18 | Oily fish consumption | 3.000000e-10 |
| GCST010140_10 | Pork consumption | 3.000000e-10 |
| GCST010703_342 | Brain morphology (MOSTest) | 4.000000e-10 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009959 | diverticular disease |
| EFO:0008111 | diet measurement |
| EFO:0004346 | neuroimaging measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D009456 | Neurofibromatosis 1 | C04.557.580.600.580.590.650; C04.700.631.650; C10.562.600.500; C10.574.500.549.400; C10.668.829.675; C16.320.400.560.400; C16.320.700.633.650 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
13 total (human), top 13 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tretinoin | affects expression, increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| sodium bichromate | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| theaflavin-3,3’-digallate | affects expression | 1 |
| Calcitriol | increases expression | 1 |
| Malathion | affects expression | 1 |
| Quercetin | increases expression | 1 |
| Dronabinol | increases expression | 1 |
| 8-Bromo Cyclic Adenosine Monophosphate | increases expression | 1 |
| Cyclosporine | increases methylation | 1 |
Clinical trials (associated diseases)
181 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00169611 | PHASE4 | COMPLETED | NF1-Attention: Study of Children With Neurofibromatosis Type 1 Treated by Methylphenidate |
| NCT03975829 | PHASE4 | RECRUITING | Pediatric Long-Term Follow-up and Rollover Study |
| NCT02471339 | PHASE3 | COMPLETED | Acceptance and Commitment Training for Adolescents and Young Adults With Neurofibromatosis Type 1, Plexiform Neurofibromas, and Chronic Pain |
| NCT03871257 | PHASE3 | ACTIVE_NOT_RECRUITING | A Study of the Drugs Selumetinib Versus Carboplatin/Vincristine in Patients With Neurofibromatosis and Low-Grade Glioma |
| NCT04461886 | PHASE3 | TERMINATED | A Long-term Study of NPC-12G Gel in Neurofibromatosis Type I |
| NCT04924608 | PHASE3 | ACTIVE_NOT_RECRUITING | Efficacy and Safety of Selumetinib in Adults With NF1 Who Have Symptomatic, Inoperable Plexiform Neurofibromas |
| NCT05913037 | PHASE3 | ACTIVE_NOT_RECRUITING | FCN-159 in Adult Patients With Symptomatic, Inoperable Neurofibromatosis Type 1-Related Plexiform Neurofibromas |
| NCT00021541 | PHASE2 | COMPLETED | R115777 to Treat Children With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas |
| NCT00030264 | PHASE2 | COMPLETED | Combination Chemotherapy in Treating Patients With Neurofibromatosis and Progressive Plexiform Neurofibromas |
| NCT00076102 | PHASE2 | COMPLETED | Pirfenidone in Children and Young Adults With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas |
| NCT00304083 | PHASE2 | COMPLETED | Combination Chemotherapy in Treating Patients With Stage III or Stage IV Malignant Peripheral Nerve Sheath Tumors |
| NCT00326872 | PHASE2 | TERMINATED | AZD2171 in Treating Patients With Neurofibromatosis Type 1 and Plexiform Neurofibroma and/or Neurofibroma Near the Spine |
| NCT00589784 | PHASE2 | COMPLETED | Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma |
| NCT00634270 | PHASE2 | COMPLETED | A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas |
| NCT00754780 | PHASE2 | COMPLETED | Clinical Trial of Pirfenidone in Adult Patients With Neurofibromatosis 1 |
| NCT00846430 | PHASE2 | COMPLETED | Medical Treatment of High-Risk Neurofibromas |
| NCT00853580 | PHASE2 | COMPLETED | A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1 |
| NCT01125046 | PHASE2 | COMPLETED | Bevacizumab in Treating Patients With Recurrent or Progressive Meningiomas |
| NCT01402817 | PHASE2 | TERMINATED | Study of Sutent®/Sunitinib (SU11248) in Subjects With NF-1 Plexiform Neurofibromas |
| NCT01412892 | PHASE2 | COMPLETED | Use of RAD001 as Monotherapy in the Treatment of Neurofibromatosis 1 Related Internal Plexiform Neurofibromas |
| NCT01553149 | PHASE2 | COMPLETED | Low-Dose or High-Dose Lenalidomide in Treating Younger Patients With Recurrent, Refractory, or Progressive Pilocytic Astrocytoma or Optic Pathway Glioma |
| NCT01673009 | PHASE2 | COMPLETED | Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas |
| NCT01968590 | PHASE2 | TERMINATED | Vitamin D Supplementation for Adults With Neurofibromatosis Type 1 (NF1) |
| NCT02096471 | PHASE2 | COMPLETED | MEK Inhibitor PD-0325901 Trial in Adolescents and Adults With NF1 |
| NCT02101736 | PHASE2 | COMPLETED | Cabozantinib for Plexiform Neurofibromas (PN) in Subjects With NF1 in Children and Adults |
| NCT02332902 | PHASE2 | COMPLETED | Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1 CRAD001CUS232T |
| NCT02407405 | PHASE2 | ACTIVE_NOT_RECRUITING | MEK 1/2 Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) in Adults With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas |
| NCT02728388 | PHASE2 | RECRUITING | Photodynamic Therapy for Benign Dermal Neurofibromas- Phase II |
| NCT02839720 | PHASE2 | COMPLETED | Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Cutaneous Neurofibroma |
| NCT02964884 | PHASE2 | ACTIVE_NOT_RECRUITING | Interventions for Reading Disabilities in NF1 |
| NCT03090971 | PHASE2 | COMPLETED | Use of Topical Liquid Diclofenac Following Laser Microporation of Cutaneous Neurofibromas in Patients With NF1 |
| NCT03109301 | PHASE2 | WITHDRAWN | Mitogen Activated Protein Kinase Kinase (MEK1/2) Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) in People With Neurofibromatosis Type 1 (NF1) Mutated Gastrointestinal Stromal Tumors (GIST) |
| NCT03190915 | PHASE2 | ACTIVE_NOT_RECRUITING | Trametinib in Treating Patients With Relapsed or Refractory Juvenile Myelomonocytic Leukemia |
| NCT03231306 | PHASE2 | COMPLETED | Phase II Study of Binimetinib in Children and Adults With NF1 Plexiform Neurofibromas |
| NCT03433183 | PHASE2 | COMPLETED | SARC031: MEK Inhibitor Selumetinib (AZD6244) in Combination With the mTOR Inhibitor Sirolimus for Patients With Malignant Peripheral Nerve Sheath Tumors |
| NCT03741101 | PHASE2 | UNKNOWN | Treatment of NF1-related Plexiform Neurofibroma With Trametinib |
| NCT03962543 | PHASE2 | ACTIVE_NOT_RECRUITING | MEK Inhibitor Mirdametinib (PD-0325901) in Patients With Neurofibromatosis Type 1 Associated Plexiform Neurofibromas |
| NCT04435665 | PHASE2 | COMPLETED | NFX-179 Topical Gel Treatment in Adults With Neurofibromatosis 1 (NF1) and Cutaneous Neurofibromas (cNF) |
| NCT04481035 | PHASE2 | COMPLETED | Antioxidant Therapy With N-acetylcysteine for Learning and Motor Behavior in Children With Neurofibromatosis Type 1 |
| NCT04481048 | PHASE2 | ACTIVE_NOT_RECRUITING | Antioxidant Therapy With N-acetylcysteine for Children With Neurofibromatosis Type 1 |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): neurofibromatosis type 1