LGI3
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Summary
LGI3 (leucine rich repeat LGI family member 3, HGNC:18711) is a protein-coding gene on chromosome 8p21.3, encoding Leucine-rich repeat LGI family member 3 (Q8N145). May participate in the regulation of neuronal exocytosis.
Predicted to be involved in regulation of exocytosis. Located in extracellular space.
Source: NCBI Gene 203190 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neurodevelopmental disorder (Strong, GenCC) — +1 more curated relationship
- GWAS associations: 1
- Clinical variants (ClinVar): 127 total — 10 pathogenic, 1 likely-pathogenic
- Phenotypes (HPO): 23
- MANE Select transcript:
NM_139278
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18711 |
| Approved symbol | LGI3 |
| Name | leucine rich repeat LGI family member 3 |
| Location | 8p21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000168481 |
| Ensembl biotype | protein_coding |
| OMIM | 608302 |
| Entrez | 203190 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 7 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000306317, ENST00000424267, ENST00000517694, ENST00000518365, ENST00000520124, ENST00000950199, ENST00000950200, ENST00000950201, ENST00000950202
RefSeq mRNA: 1 — MANE Select: NM_139278
NM_139278
CCDS: CCDS6025
Canonical transcript exons
ENST00000306317 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001159088 | 22155392 | 22155463 |
| ENSE00001287155 | 22156337 | 22156806 |
| ENSE00003458770 | 22153968 | 22154039 |
| ENSE00003482756 | 22154560 | 22154631 |
| ENSE00003489369 | 22151489 | 22151653 |
| ENSE00003493450 | 22151831 | 22152000 |
| ENSE00003566850 | 22146830 | 22148977 |
| ENSE00003682580 | 22154142 | 22154213 |
Expression profiles
Bgee: expression breadth ubiquitous, 167 present calls, max score 96.60.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.7318 / max 216.4268, expressed in 156 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 92209 | 2.2860 | 147 |
| 92208 | 0.1712 | 69 |
| 92207 | 0.1174 | 63 |
| 205097 | 0.0944 | 57 |
| 92210 | 0.0628 | 41 |
Top tissues by expression
250 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| C1 segment of cervical spinal cord | UBERON:0006469 | 96.60 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 96.22 | gold quality |
| prefrontal cortex | UBERON:0000451 | 96.10 | gold quality |
| right frontal lobe | UBERON:0002810 | 95.82 | gold quality |
| spinal cord | UBERON:0002240 | 95.51 | gold quality |
| putamen | UBERON:0001874 | 94.83 | gold quality |
| frontal cortex | UBERON:0001870 | 94.12 | gold quality |
| caudate nucleus | UBERON:0001873 | 93.73 | gold quality |
| substantia nigra | UBERON:0002038 | 93.09 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 92.75 | gold quality |
| hypothalamus | UBERON:0001898 | 92.62 | gold quality |
| midbrain | UBERON:0001891 | 92.59 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 92.59 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 92.23 | gold quality |
| neocortex | UBERON:0001950 | 92.00 | gold quality |
| corpus callosum | UBERON:0002336 | 91.73 | gold quality |
| nucleus accumbens | UBERON:0001882 | 91.60 | gold quality |
| cerebral cortex | UBERON:0000956 | 90.72 | gold quality |
| primary visual cortex | UBERON:0002436 | 90.42 | gold quality |
| amygdala | UBERON:0001876 | 90.33 | gold quality |
| occipital lobe | UBERON:0002021 | 90.26 | gold quality |
| Ammon’s horn | UBERON:0001954 | 90.17 | gold quality |
| postcentral gyrus | UBERON:0002581 | 89.93 | gold quality |
| parietal lobe | UBERON:0001872 | 89.80 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 89.66 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 89.49 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 89.07 | gold quality |
| forebrain | UBERON:0001890 | 88.88 | gold quality |
| brain | UBERON:0000955 | 88.42 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 88.41 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 20.01 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
46 targeting LGI3, 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-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-3151-5P | 99.86 | 63.83 | 1069 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-298 | 99.63 | 67.56 | 1916 |
| HSA-MIR-3942-3P | 99.57 | 69.03 | 2854 |
| HSA-MIR-186-3P | 99.51 | 66.24 | 1685 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
| HSA-MIR-6797-3P | 99.17 | 66.94 | 668 |
| HSA-MIR-4784 | 99.15 | 67.41 | 1733 |
| HSA-MIR-661 | 99.09 | 65.94 | 2062 |
| HSA-MIR-328-5P | 99.08 | 64.65 | 1000 |
| HSA-MIR-922 | 99.02 | 67.23 | 1838 |
| HSA-MIR-3150B-3P | 98.81 | 67.21 | 1728 |
| HSA-MIR-6885-5P | 98.71 | 64.33 | 902 |
| HSA-MIR-423-5P | 98.69 | 67.48 | 1522 |
| HSA-MIR-2467-3P | 98.65 | 67.18 | 1969 |
| HSA-MIR-1227-5P | 98.65 | 65.32 | 1549 |
| HSA-MIR-6076 | 98.61 | 65.69 | 637 |
| HSA-MIR-3184-5P | 98.56 | 67.13 | 1491 |
| HSA-MIR-7114-5P | 98.51 | 67.87 | 1349 |
| HSA-MIR-3180 | 98.46 | 64.68 | 348 |
| HSA-MIR-3180-3P | 98.46 | 64.68 | 348 |
| HSA-MIR-6816-5P | 98.46 | 64.35 | 364 |
| HSA-MIR-4436B-3P | 98.25 | 65.26 | 1494 |
| HSA-MIR-6735-5P | 98.24 | 65.36 | 1488 |
Literature-anchored findings (GeneRIF, showing 6)
- LGI3 was mostly expressed in the granular layer of the epidermis of human skin. (PMID:23815230)
- Leucine-rich glioma inactivated 3 is a cytokine in human skin that promotes melanin production. (PMID:24903553)
- The expression of LGI3 was significantly associated with the prognosis of brain, colorectal and lung cancer. (PMID:29257304)
- Taken together, these results suggest that LGI3 promotes keratinocyte differentiation. (PMID:30091803)
- LGI3 is secreted and binds to ADAM22 via TRIF-dependent NF-kappaB pathway in response to LPS in human keratinocytes. (PMID:31627033)
- LGI3 promotes human keratinocyte migration in high-glucose environments by increasing the expression of beta-catenin. (PMID:35751164)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lgi3 | ENSDARG00000041358 |
| mus_musculus | Lgi3 | ENSMUSG00000033595 |
| rattus_norvegicus | Lgi3 | ENSRNOG00000011323 |
| drosophila_melanogaster | Con | FBGN0005775 |
| drosophila_melanogaster | kek3 | FBGN0028370 |
| caenorhabditis_elegans | lron-9 | WBGENE00011971 |
| caenorhabditis_elegans | WBGENE00020649 |
Paralogs (22): CHADL (ENSG00000100399), LGI1 (ENSG00000108231), LGR6 (ENSG00000133067), CHAD (ENSG00000136457), LRIG3 (ENSG00000139263), LGR5 (ENSG00000139292), LRIG1 (ENSG00000144749), LRRTM2 (ENSG00000146006), LRIT1 (ENSG00000148602), LGI2 (ENSG00000153012), LGI4 (ENSG00000153902), LRRC52 (ENSG00000162763), ELFN2 (ENSG00000166897), LRG1 (ENSG00000171236), CPN2 (ENSG00000178772), LRIT3 (ENSG00000183423), LRRC26 (ENSG00000184709), LRIG2 (ENSG00000198799), LGR4 (ENSG00000205213), ELFN1 (ENSG00000225968), LRRC24 (ENSG00000254402), TRIL (ENSG00000255690)
Protein
Protein identifiers
Leucine-rich repeat LGI family member 3 — Q8N145 (reviewed: Q8N145)
Alternative names: LGI1-like protein 4, Leucine-rich glioma-inactivated protein 3
All UniProt accessions (3): E5RIV5, Q8N145, H0YAP4
UniProt curated annotations — full annotation on UniProt →
Function. May participate in the regulation of neuronal exocytosis.
Subunit / interactions. Interacts with STX1A.
Subcellular location. Secreted. Cytoplasmic vesicle. Secretory vesicle. Synaptic vesicle. Synapse. Synaptosome. Cell projection. Axon.
Tissue specificity. Widely expressed, with highest levels in brain and lung.
Disease relevance. Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects (IDDMDS) [MIM:620007] An autosomal recessive disorder characterized by global developmental delay, intellectual disability, distal deformities with diminished reflexes, visible facial myokymia, and distinctive electromyographic features suggestive of motor nerve instability. The disease is caused by variants affecting the gene represented in this entry.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N145-1 | 1 | yes |
| Q8N145-2 | 2 |
RefSeq proteins (1): NP_644807* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000483 | Cys-rich_flank_reg_C | Domain |
| IPR001611 | Leu-rich_rpt | Repeat |
| IPR003591 | Leu-rich_rpt_typical-subtyp | Repeat |
| IPR005492 | EPTP | Repeat |
| IPR009039 | EAR | Repeat |
| IPR011041 | Quinoprot_gluc/sorb_DH_b-prop | Homologous_superfamily |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
| IPR051295 | LGI_related | Family |
Pfam: PF03736, PF13855
UniProt features (22 total): repeat 10, sequence variant 4, glycosylation site 2, domain 2, signal peptide 1, chain 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N145-F1 | 92.09 | 0.87 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (2): 189, 311
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-5682910 | LGI-ADAM interactions |
| R-HSA-1266738 | Developmental Biology |
MSigDB gene sets: 125 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, BENPORATH_ES_WITH_H3K27ME3, GOBP_REGULATION_OF_EXOCYTOSIS, GOBP_VESICLE_MEDIATED_TRANSPORT, CAGCTG_AP4_Q5, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_EXOCYTOSIS, YGACNNYACAR_UNKNOWN, chr8p21, GOBP_SECRETION, TGANTCA_AP1_C, NRF2_Q4, GOCC_NEURON_PROJECTION, GOBP_REGULATION_OF_TRANSPORT, IVANOVA_HEMATOPOIESIS_STEM_CELL_LONG_TERM
GO Biological Process (2): exocytosis (GO:0006887), regulation of exocytosis (GO:0017157)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (9): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), synaptic vesicle (GO:0008021), juxtaparanode region of axon (GO:0044224), axon (GO:0030424), cytoplasmic vesicle (GO:0031410), cell projection (GO:0042995), neuron projection (GO:0043005), synapse (GO:0045202)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Developmental Biology | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| vesicle-mediated transport | 1 |
| secretion by cell | 1 |
| vesicle fusion to plasma membrane | 1 |
| exocytosis | 1 |
| regulation of vesicle-mediated transport | 1 |
| regulation of secretion by cell | 1 |
| binding | 1 |
| exocytic vesicle | 1 |
| presynapse | 1 |
| main axon | 1 |
| neuron projection | 1 |
| cytoplasm | 1 |
| intracellular vesicle | 1 |
| plasma membrane bounded cell projection | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
1470 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LGI3 | ADAM23 | O75077 | 850 |
| LGI3 | ADAM22 | Q9P0K1 | 842 |
| LGI3 | ADAM28 | Q9UKQ2 | 688 |
| LGI3 | MTUS1 | Q9ULD2 | 622 |
| LGI3 | ADAM11 | O75078 | 454 |
| LGI3 | LGI1 | O95970 | 419 |
| LGI3 | PHYHIP | Q92561 | 400 |
| LGI3 | DLG2 | Q15700 | 384 |
| LGI3 | MPP3 | Q13368 | 372 |
| LGI3 | CHMP7 | Q8WUX9 | 366 |
| LGI3 | FGF18 | O76093 | 347 |
| LGI3 | LGI4 | Q8N135 | 331 |
| LGI3 | MITF | O75030 | 312 |
| LGI3 | LRRC7 | Q96NW7 | 294 |
| LGI3 | RNF186 | Q9NXI6 | 290 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RSPH1 | LGI3 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (2): LGI3 (Two-hybrid), LGI3 (Affinity Capture-MS)
ESM2 similar proteins: A6H793, D3ZPX4, F1MMS9, J3S6Y1, O75325, O75578, P08514, P08648, P11688, P17852, P26006, P35739, P38570, P51805, P59034, P59035, P70206, P70208, Q13683, Q1EGL0, Q1EGL1, Q27977, Q2EEY0, Q3UFB7, Q3UFQ8, Q4R4H3, Q5I2M3, Q5I2M4, Q5I2M5, Q5I2M7, Q5I2M8, Q5STE3, Q5XHY1, Q62179, Q62470, Q63258, Q6MZW2, Q8K1S1, Q8K406, Q8K4Z0
Diamond homologs: O95970, P24014, Q1EGL0, Q1EGL1, Q1EGL2, Q4R4H3, Q5E9T6, Q5R945, Q6EMK4, Q8K1S1, Q8K406, Q8K4Y5, Q8K4Z0, Q8N0V4, Q8N135, Q8N145, Q9CZT5, Q9JIA1, Q9WVC1, P70193, O88279, Q80TR4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
127 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 10 |
| Likely pathogenic | 1 |
| Uncertain significance | 97 |
| Likely benign | 7 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (11)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1699925 | NC_000008.11:g.22146137_22152989del | Pathogenic |
| 1699926 | NM_139278.4(LGI3):c.494+1G>C | Pathogenic |
| 1699927 | NM_139278.4(LGI3):c.335C>A (p.Ser112Ter) | Pathogenic |
| 1699928 | NM_139278.4(LGI3):c.991G>A (p.Asp331Asn) | Pathogenic |
| 1699929 | NM_139278.4(LGI3):c.1117del (p.Trp373fs) | Pathogenic |
| 1699930 | NM_139278.4(LGI3):c.422T>A (p.Leu141His) | Pathogenic |
| 1699931 | NM_139278.4(LGI3):c.830-1G>A | Pathogenic |
| 1699932 | NM_139278.4(LGI3):c.102dup (p.Lys35fs) | Pathogenic |
| 1699933 | NM_139278.4(LGI3):c.937del (p.Thr313fs) | Pathogenic |
| 2430614 | NM_139278.4(LGI3):c.271C>T (p.Gln91Ter) | Pathogenic |
| 3367082 | NM_139278.4(LGI3):c.625C>T (p.Gln209Ter) | Likely pathogenic |
SpliceAI
1192 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:22148973:GGGGG:G | acceptor_gain | 1.0000 |
| 8:22148974:GGGG:G | acceptor_gain | 1.0000 |
| 8:22148975:GGG:G | acceptor_gain | 1.0000 |
| 8:22148977:GC:G | acceptor_loss | 1.0000 |
| 8:22148978:C:CC | acceptor_gain | 1.0000 |
| 8:22148984:C:CT | acceptor_gain | 1.0000 |
| 8:22148984:C:T | acceptor_gain | 1.0000 |
| 8:22148985:A:T | acceptor_gain | 1.0000 |
| 8:22151484:GGTAC:G | donor_loss | 1.0000 |
| 8:22151485:GTAC:G | donor_loss | 1.0000 |
| 8:22151486:TACCT:T | donor_loss | 1.0000 |
| 8:22151487:A:C | donor_loss | 1.0000 |
| 8:22151488:C:CG | donor_loss | 1.0000 |
| 8:22151654:C:CC | acceptor_gain | 1.0000 |
| 8:22151828:TA:T | donor_loss | 1.0000 |
| 8:22151996:GGTCC:G | acceptor_gain | 1.0000 |
| 8:22151997:GTCC:G | acceptor_gain | 1.0000 |
| 8:22151998:TCC:T | acceptor_gain | 1.0000 |
| 8:22151999:CC:C | acceptor_gain | 1.0000 |
| 8:22151999:CCC:C | acceptor_gain | 1.0000 |
| 8:22152000:CC:C | acceptor_gain | 1.0000 |
| 8:22152001:C:CC | acceptor_gain | 1.0000 |
| 8:22152001:C:T | acceptor_gain | 1.0000 |
| 8:22152001:CTG:C | acceptor_loss | 1.0000 |
| 8:22152002:T:C | acceptor_loss | 1.0000 |
| 8:22152004:C:CT | acceptor_gain | 1.0000 |
| 8:22152007:C:CT | acceptor_gain | 1.0000 |
| 8:22152008:A:AC | acceptor_gain | 1.0000 |
| 8:22152008:A:C | acceptor_gain | 1.0000 |
| 8:22152008:A:T | acceptor_gain | 1.0000 |
AlphaMissense
3555 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:22151955:C:A | W180C | 1.000 |
| 8:22151955:C:G | W180C | 1.000 |
| 8:22154024:A:C | N146K | 1.000 |
| 8:22154024:A:T | N146K | 1.000 |
| 8:22154142:A:G | L141P | 1.000 |
| 8:22154151:A:C | L138W | 1.000 |
| 8:22154198:A:C | N122K | 1.000 |
| 8:22154198:A:T | N122K | 1.000 |
| 8:22154210:G:C | F118L | 1.000 |
| 8:22154210:G:T | F118L | 1.000 |
| 8:22154211:A:C | F118C | 1.000 |
| 8:22154212:A:G | F118L | 1.000 |
| 8:22154560:A:G | L117P | 1.000 |
| 8:22154587:A:C | F108C | 1.000 |
| 8:22154587:A:G | F108S | 1.000 |
| 8:22155419:A:C | F84C | 1.000 |
| 8:22156337:A:G | L69P | 1.000 |
| 8:22151532:C:A | W262C | 0.999 |
| 8:22151532:C:G | W262C | 0.999 |
| 8:22151650:A:G | F223S | 0.999 |
| 8:22151904:G:C | C197W | 0.999 |
| 8:22151905:C:G | C197S | 0.999 |
| 8:22151906:A:T | C197S | 0.999 |
| 8:22151943:C:A | W184C | 0.999 |
| 8:22151943:C:G | W184C | 0.999 |
| 8:22151974:C:G | C174S | 0.999 |
| 8:22151975:A:T | C174S | 0.999 |
| 8:22151985:G:C | N170K | 0.999 |
| 8:22151985:G:T | N170K | 0.999 |
| 8:22154025:T:A | N146I | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000063065 (8:22148077 C>T), RS1000634636 (8:22146573 C>G,T), RS1000909861 (8:22157383 A>C), RS1001574006 (8:22147354 C>G), RS1001643674 (8:22158410 A>C), RS1001942818 (8:22158074 G>A), RS1001983020 (8:22147174 G>A), RS1002015677 (8:22146917 C>G), RS1002351984 (8:22157806 A>G), RS1002487919 (8:22154714 T>A,C), RS1002725348 (8:22155739 A>G), RS1002837048 (8:22153325 T>C), RS1003021824 (8:22147786 C>T), RS1003549888 (8:22153530 G>A,T), RS1003907648 (8:22153097 A>T)
Disease associations
OMIM: gene MIM:608302 | disease phenotypes: MIM:620007
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| neurodevelopmental disorder | Strong | Autosomal recessive |
| intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects | Limited | Autosomal recessive |
Mondo (2): intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects (MONDO:0859277), neurodevelopmental disorder (MONDO:0700092)
Orphanet (0):
HPO phenotypes
23 total (23 of 23 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000160 | Narrow mouth |
| HP:0000253 | Progressive microcephaly |
| HP:0000317 | Facial myokymia |
| HP:0000739 | Anxiety |
| HP:0000768 | Pectus carinatum |
| HP:0000964 | Eczematoid dermatitis |
| HP:0001249 | Intellectual disability |
| HP:0001251 | Ataxia |
| HP:0001263 | Global developmental delay |
| HP:0001265 | Hyporeflexia |
| HP:0001308 | Tongue fasciculations |
| HP:0001385 | Hip dysplasia |
| HP:0001508 | Failure to thrive |
| HP:0002375 | Hypokinesia |
| HP:0002411 | Myokymia |
| HP:0002808 | Kyphosis |
| HP:0003593 | Infantile onset |
| HP:0004322 | Short stature |
| HP:0007018 | Attention deficit hyperactivity disorder |
| HP:0008936 | Axial hypotonia |
| HP:0011463 | Childhood onset |
| HP:0012389 | Appendicular hypotonia |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001905_1 | Hypertriglyceridemia | 7.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004530 | triglyceride measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D065886 | Neurodevelopmental Disorders | F03.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
16 total (human), top 16 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sotorasib | affects cotreatment, decreases expression | 1 |
| butylbenzyl phthalate | decreases expression | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| trametinib | affects cotreatment, decreases expression | 1 |
| NVP-BKM120 | affects cotreatment, decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation, increases methylation | 1 |
| Dactinomycin | affects cotreatment, increases expression | 1 |
| Endosulfan | increases expression | 1 |
| Methotrexate | increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Smoke | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
Clinical trials (associated diseases)
202 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | PHASE3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT02909959 | PHASE2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | PHASE2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | PHASE2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| NCT00503191 | PHASE1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | PHASE1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
| NCT06300398 | PHASE1 | COMPLETED | IAMA-6 Oral Dose Study in Healthy Adults |
| NCT01783041 | PHASE2/PHASE3 | COMPLETED | Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants |
| NCT05767385 | PHASE2/PHASE3 | RECRUITING | Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior |
| NCT05675098 | EARLY_PHASE1 | NOT_YET_RECRUITING | Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy |
| NCT00783783 | Not specified | COMPLETED | CYP2D6 Pharmacogenetics in Risperidone-Treated Children |
| NCT01778504 | Not specified | RECRUITING | Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders |
| NCT01850784 | Not specified | UNKNOWN | High Energy Formula Feeding in Infants With Congenital Heart Disease |
| NCT01922791 | Not specified | COMPLETED | Nutrition and Pregnancy Intervention Study |
| NCT01942525 | Not specified | UNKNOWN | Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants |
| NCT02003170 | Not specified | COMPLETED | Etiology and Early Diagnosis of Neurodevelopmental Disorders |
| NCT02118649 | Not specified | ACTIVE_NOT_RECRUITING | Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game |
| NCT02557191 | Not specified | TERMINATED | Biomarkers, Neurodevelopment and Preterm Infants |
| NCT02690675 | Not specified | COMPLETED | Iron Supplement Effect on Child Development |
| NCT02694003 | Not specified | COMPLETED | Better Nights, Better Days for Children With Neurodevelopment Disorders |
| NCT02792894 | Not specified | COMPLETED | Family Networks (FaNs) for Children With Developmental Disorders and Delays |
| NCT02871674 | Not specified | UNKNOWN | Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial |
| NCT02887157 | Not specified | COMPLETED | Analyzing Retinal Microanatomy in ROP |
| NCT02898298 | Not specified | COMPLETED | Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder |
| NCT02912780 | Not specified | UNKNOWN | Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit |
| NCT03023293 | Not specified | COMPLETED | n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum |
| NCT03023644 | Not specified | COMPLETED | Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study |
| NCT03032991 | Not specified | UNKNOWN | Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers |
| NCT03088189 | Not specified | TERMINATED | Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring |
| NCT03096028 | Not specified | COMPLETED | Developmental Origins of Mental Health Disorders |
| NCT03148782 | Not specified | COMPLETED | Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase |
| NCT03172104 | Not specified | COMPLETED | Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age |
| NCT03222375 | Not specified | RECRUITING | SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism |
| NCT03229928 | Not specified | COMPLETED | Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge |
| NCT03232489 | Not specified | UNKNOWN | Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice |
Related Atlas pages
- Associated diseases: intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects