ESPNL
gene geneOn this page
Also known as FLJ42568
Summary
ESPNL (espin like, HGNC:27937) is a protein-coding gene on chromosome 2q37.3, encoding Espin-like protein (Q6ZVH7). Binds to but does not cross-link actin.
Predicted to enable actin filament binding activity. Predicted to be involved in actin filament bundle assembly and sensory perception of sound. Predicted to be located in stereocilium tip. Predicted to be active in cytoplasm.
Source: NCBI Gene 339768 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 267 total — 1 pathogenic
- MANE Select transcript:
NM_194312
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:27937 |
| Approved symbol | ESPNL |
| Name | espin like |
| Location | 2q37.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ42568 |
| Ensembl gene | ENSG00000144488 |
| Ensembl biotype | protein_coding |
| OMIM | 619974 |
| Entrez | 339768 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000343063, ENST00000409169, ENST00000409506, ENST00000423032, ENST00000477241
RefSeq mRNA: 2 — MANE Select: NM_194312
NM_001308370, NM_194312
CCDS: CCDS2525, CCDS77547
Canonical transcript exons
ENST00000343063 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001222582 | 238128707 | 238128904 |
| ENSE00001222599 | 238125270 | 238125384 |
| ENSE00001366247 | 238101941 | 238102131 |
| ENSE00001367620 | 238107791 | 238107973 |
| ENSE00001378370 | 238116903 | 238117034 |
| ENSE00001379324 | 238130128 | 238133287 |
| ENSE00001381095 | 238104656 | 238104842 |
| ENSE00001421662 | 238100340 | 238100713 |
| ENSE00003683324 | 238127622 | 238127734 |
Expression profiles
Bgee: expression breadth ubiquitous, 139 present calls, max score 70.72.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1529 / max 56.7737, expressed in 44 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 26322 | 0.0613 | 16 |
| 26323 | 0.0458 | 12 |
| 26324 | 0.0299 | 18 |
| 26321 | 0.0158 | 7 |
Top tissues by expression
240 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| parotid gland | UBERON:0001831 | 70.72 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 69.72 | gold quality |
| buccal mucosa cell | CL:0002336 | 68.88 | gold quality |
| oocyte | CL:0000023 | 68.14 | gold quality |
| mammary duct | UBERON:0001765 | 68.09 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 67.82 | gold quality |
| cerebellar vermis | UBERON:0004720 | 67.58 | gold quality |
| cartilage tissue | UBERON:0002418 | 67.29 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 67.14 | gold quality |
| cerebellum | UBERON:0002037 | 66.99 | gold quality |
| cerebellar cortex | UBERON:0002129 | 66.94 | gold quality |
| mucosa of stomach | UBERON:0001199 | 66.64 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 66.61 | gold quality |
| secondary oocyte | CL:0000655 | 66.57 | gold quality |
| sperm | CL:0000019 | 66.25 | gold quality |
| decidua | UBERON:0002450 | 66.24 | silver quality |
| nasal cavity epithelium | UBERON:0005384 | 66.19 | gold quality |
| vena cava | UBERON:0004087 | 65.93 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 65.68 | gold quality |
| right ovary | UBERON:0002118 | 64.82 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 64.73 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 64.69 | gold quality |
| nipple | UBERON:0002030 | 64.63 | gold quality |
| synovial joint | UBERON:0002217 | 64.55 | gold quality |
| saphenous vein | UBERON:0007318 | 64.47 | gold quality |
| right lobe of liver | UBERON:0001114 | 64.44 | gold quality |
| amniotic fluid | UBERON:0000173 | 64.43 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 64.41 | gold quality |
| body of tongue | UBERON:0011876 | 64.35 | gold quality |
| pericardium | UBERON:0002407 | 64.32 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.10 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
26 targeting ESPNL, 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-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-1915-3P | 99.58 | 66.79 | 1988 |
| HSA-MIR-4667-3P | 99.26 | 65.45 | 1608 |
| HSA-MIR-4291 | 99.20 | 68.88 | 2969 |
| HSA-MIR-4279 | 99.19 | 66.70 | 2437 |
| HSA-MIR-4426 | 99.17 | 66.74 | 1949 |
| HSA-MIR-3619-5P | 99.00 | 68.87 | 2308 |
| HSA-MIR-214-3P | 98.71 | 68.12 | 2128 |
| HSA-MIR-761 | 98.71 | 68.07 | 2051 |
| HSA-MIR-1227-5P | 98.65 | 65.32 | 1549 |
| HSA-MIR-4290 | 98.51 | 65.17 | 907 |
| HSA-MIR-4726-3P | 98.49 | 63.89 | 1385 |
| HSA-MIR-6742-3P | 97.95 | 64.50 | 1490 |
| HSA-MIR-296-5P | 97.61 | 64.02 | 851 |
| HSA-MIR-6872-3P | 97.08 | 66.99 | 750 |
| HSA-MIR-3622A-3P | 97.06 | 66.43 | 1000 |
| HSA-MIR-3622B-3P | 96.82 | 66.36 | 988 |
| HSA-MIR-582-3P | 96.69 | 67.38 | 1019 |
| HSA-MIR-7973 | 96.48 | 65.54 | 502 |
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | espnla | ENSDARG00000078211 |
| danio_rerio | espnlb | ENSDARG00000093112 |
| mus_musculus | Espnl | ENSMUSG00000049515 |
| rattus_norvegicus | Espnl | ENSRNOG00000024717 |
| drosophila_melanogaster | f | FBGN0262111 |
| caenorhabditis_elegans | WBGENE00012319 |
Paralogs (1): ESPN (ENSG00000187017)
Protein
Protein identifiers
Espin-like protein — Q6ZVH7 (reviewed: Q6ZVH7)
All UniProt accessions (2): Q6ZVH7, C9J6L8
UniProt curated annotations — full annotation on UniProt →
Function. Binds to but does not cross-link actin. Required for the formation and maintenance of inner ear hair cell stereocilia and staircase formation. Essential for normal hearing.
Subunit / interactions. Interacts with MYO3A (via C-terminus). Interacts with MYO3B (via C-terminus).
Subcellular location. Cell projection. Stereocilium.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6ZVH7-1 | 1 | yes |
| Q6ZVH7-2 | 2 | |
| Q6ZVH7-3 | 3 |
RefSeq proteins (2): NP_001295299, NP_919288* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002110 | Ankyrin_rpt | Repeat |
| IPR036770 | Ankyrin_rpt-contain_sf | Homologous_superfamily |
| IPR052420 | Espin/Espin-like | Family |
Pfam: PF12796, PF13637
UniProt features (28 total): repeat 9, region of interest 5, sequence variant 5, sequence conflict 3, compositionally biased region 2, splice variant 2, chain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6ZVH7-F1 | 65.57 | 0.32 |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-9662360 | Sensory processing of sound by inner hair cells of the cochlea |
| R-HSA-9662361 | Sensory processing of sound by outer hair cells of the cochlea |
MSigDB gene sets: 39 (showing top):
GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, GOBP_ACTIN_FILAMENT_ORGANIZATION, RYTTCCTG_ETS2_B, GOBP_SENSORY_PERCEPTION, GOMF_ACTIN_BINDING, GOCC_NEURON_PROJECTION, GOCC_STEREOCILIUM_BUNDLE, GOCC_CLUSTER_OF_ACTIN_BASED_CELL_PROJECTIONS, GOCC_ACTIN_BASED_CELL_PROJECTION, GOMF_CYTOSKELETAL_PROTEIN_BINDING, DODD_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_SUPRAMOLECULAR_FIBER_ORGANIZATION, GOCC_STEREOCILIUM_TIP, GOMF_PROTEIN_CONTAINING_COMPLEX_BINDING
GO Biological Process (2): sensory perception of sound (GO:0007605), actin filament bundle assembly (GO:0051017)
GO Molecular Function (3): actin filament binding (GO:0051015), actin binding (GO:0003779), protein binding (GO:0005515)
GO Cellular Component (4): cytoplasm (GO:0005737), stereocilium tip (GO:0032426), stereocilium (GO:0032420), cell projection (GO:0042995)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Sensory processing of sound | 2 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| sensory perception of mechanical stimulus | 1 |
| cellular component assembly | 1 |
| actin filament bundle organization | 1 |
| actin binding | 1 |
| protein-containing complex binding | 1 |
| cytoskeletal protein binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| stereocilium | 1 |
| stereocilium bundle | 1 |
| neuron projection | 1 |
| actin-based cell projection | 1 |
Protein interactions and networks
STRING
1099 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ESPNL | MYO3B | Q8WXR4 | 708 |
| ESPNL | MYO3A | Q8NEV4 | 675 |
| ESPNL | EPS8L2 | Q9H6S3 | 580 |
| ESPNL | LRRC30 | A6NM36 | 573 |
| ESPNL | MATCAP1 | Q68EN5 | 560 |
| ESPNL | WHRN | Q9P202 | 533 |
| ESPNL | KLHL18 | O94889 | 531 |
| ESPNL | MORN4 | Q8NDC4 | 523 |
| ESPNL | MYO15A | Q9UKN7 | 512 |
| ESPNL | GRXCR1 | A8MXD5 | 501 |
| ESPNL | PLS1 | Q14651 | 487 |
| ESPNL | TMEM266 | Q2M3C6 | 475 |
| ESPNL | EPS8 | Q12929 | 450 |
| ESPNL | FSCN2 | O14926 | 445 |
| ESPNL | EFHB | Q8N7U6 | 435 |
IntAct
11 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SERTAD2 | ESPNL | psi-mi:“MI:0915”(physical association) | 0.560 |
| ESPNL | PFDN5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LDLRAP1 | ESPNL | psi-mi:“MI:0915”(physical association) | 0.560 |
| KLHL22 | TRAV18 | psi-mi:“MI:0914”(association) | 0.350 |
| ESPNL | SERTAD2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ESPNL | PFDN5 | psi-mi:“MI:0915”(physical association) | 0.000 |
| LDLRAP1 | ESPNL | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (6): ESPNL (Two-hybrid), LDLRAP1 (Two-hybrid), SERTAD2 (Two-hybrid), ESPNL (Affinity Capture-MS), ESPNL (Proximity Label-MS), ESPNL (Proximity Label-MS)
ESM2 similar proteins: A0A0U1RQ45, A0A0U1RQS6, A0A2R8YCJ5, A2A699, A2AEV7, A6NGB7, A6NJG2, A6NKF7, A6NKL6, A6NL88, A8MVW0, A9JSM3, B2RU40, B8ZZ34, C9JH25, D4A9R4, J3QNX5, P0CG09, P98077, Q0VD38, Q14761, Q17QH7, Q29RK8, Q2KJ18, Q2M3V2, Q3SX20, Q5BJT1, Q5HZJ5, Q5RKR3, Q5T442, Q64697, Q69YZ2, Q6PB97, Q6PCT2, Q6UXK2, Q6ZMQ8, Q6ZVH7, Q6ZW31, Q80XF7, Q8BLS7
Diamond homologs: A0A0R4IQZ2, A2AS55, A4II29, B4E2M5, C7B178, G0LXV8, L7X8P2, L7XCU0, L7XDS4, P0C0T2, P0C550, P0DJE3, P19838, P23631, P39010, Q04749, Q04861, Q0JKV1, Q10728, Q18297, Q28C34, Q337A0, Q38998, Q3SX00, Q3UMT1, Q3UX43, Q499M5, Q4JHE0, Q5H9F3, Q5R8C8, Q5U5A6, Q63369, Q68DC2, Q6FJ70, Q6GQX6, Q6NRD0, Q6NY19, Q6P6B7, Q6P9J5, Q6ZVH7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
267 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 244 |
| Likely benign | 13 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 997810 | Single allele | Pathogenic |
SpliceAI
1938 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:238104654:A:AG | acceptor_gain | 1.0000 |
| 2:238104655:G:GG | acceptor_gain | 1.0000 |
| 2:238104655:GCA:G | acceptor_gain | 1.0000 |
| 2:238104838:GGCTG:G | donor_gain | 1.0000 |
| 2:238104839:GCTG:G | donor_gain | 1.0000 |
| 2:238104839:GCTGG:G | donor_gain | 1.0000 |
| 2:238104843:G:GG | donor_gain | 1.0000 |
| 2:238104844:T:A | donor_loss | 1.0000 |
| 2:238116901:A:AG | acceptor_gain | 1.0000 |
| 2:238116902:G:GG | acceptor_gain | 1.0000 |
| 2:238117031:GCCG:G | donor_gain | 1.0000 |
| 2:238117032:CCGG:C | donor_loss | 1.0000 |
| 2:238117035:G:C | donor_loss | 1.0000 |
| 2:238117035:G:GG | donor_gain | 1.0000 |
| 2:238117036:T:A | donor_loss | 1.0000 |
| 2:238125382:GCC:G | donor_gain | 1.0000 |
| 2:238125385:G:GG | donor_gain | 1.0000 |
| 2:238128901:CCAG:C | donor_loss | 1.0000 |
| 2:238128903:AG:A | donor_loss | 1.0000 |
| 2:238128904:GGTAG:G | donor_loss | 1.0000 |
| 2:238128905:G:GA | donor_loss | 1.0000 |
| 2:238100711:CAGG:C | donor_loss | 0.9900 |
| 2:238100712:AGGT:A | donor_loss | 0.9900 |
| 2:238100713:GG:G | donor_loss | 0.9900 |
| 2:238100714:G:A | donor_loss | 0.9900 |
| 2:238102127:GGCAG:G | donor_gain | 0.9900 |
| 2:238102128:GCAG:G | donor_gain | 0.9900 |
| 2:238102128:GCAGG:G | donor_gain | 0.9900 |
| 2:238102130:AGG:A | donor_loss | 0.9900 |
| 2:238102131:GGTA:G | donor_loss | 0.9900 |
AlphaMissense
6426 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:238128836:T:A | W449R | 0.996 |
| 2:238128836:T:C | W449R | 0.996 |
| 2:238107953:G:C | A279P | 0.993 |
| 2:238128838:G:C | W449C | 0.993 |
| 2:238128838:G:T | W449C | 0.993 |
| 2:238107858:C:A | A247D | 0.991 |
| 2:238107939:C:A | P274H | 0.991 |
| 2:238107942:T:A | L275H | 0.989 |
| 2:238107855:C:A | A246E | 0.987 |
| 2:238107939:C:G | P274R | 0.987 |
| 2:238107950:G:C | A278P | 0.987 |
| 2:238116976:T:C | L310P | 0.987 |
| 2:238104805:C:A | A212D | 0.986 |
| 2:238107851:T:C | F245L | 0.986 |
| 2:238107853:T:A | F245L | 0.986 |
| 2:238107853:T:G | F245L | 0.986 |
| 2:238131691:T:A | W993R | 0.986 |
| 2:238131691:T:C | W993R | 0.986 |
| 2:238107891:T:C | L258P | 0.985 |
| 2:238104808:C:A | A213D | 0.984 |
| 2:238107857:G:C | A247P | 0.984 |
| 2:238116978:G:C | A311P | 0.984 |
| 2:238131396:G:C | W894C | 0.984 |
| 2:238131396:G:T | W894C | 0.984 |
| 2:238131412:T:C | F900L | 0.984 |
| 2:238131414:C:A | F900L | 0.984 |
| 2:238131414:C:G | F900L | 0.984 |
| 2:238104705:T:C | C179R | 0.983 |
| 2:238104837:T:A | W223R | 0.983 |
| 2:238104837:T:C | W223R | 0.983 |
dbSNP variants (sampled 300 via entrez): RS1000093965 (2:238114893 C>T), RS1000143784 (2:238109979 A>G), RS1000145006 (2:238104718 A>G), RS1000259275 (2:238121211 A>G), RS1000263045 (2:238116214 A>C), RS1000305408 (2:238126907 G>A), RS1000364944 (2:238125959 T>C), RS1000456137 (2:238100913 T>A,C), RS1000572532 (2:238126796 GTGTA>G), RS1000612764 (2:238101114 G>A,C), RS1000727762 (2:238120091 G>A), RS1000805144 (2:238130978 C>A,T), RS1000832228 (2:238124538 T>A), RS1000913488 (2:238111391 T>G), RS1000992560 (2:238120375 C>A)
Disease associations
OMIM: gene MIM:619974 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): intellectual disability (MONDO:0001071)
Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
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 |
|---|---|---|
| Aflatoxin B1 | increases methylation, increases expression | 3 |
| aristolochic acid I | increases expression | 1 |
| bisphenol A | affects methylation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| 2,3,5-trichloro-6-phenyl-(1,4)benzoquinone | increases expression | 1 |
| Resveratrol | decreases expression, affects cotreatment | 1 |
| Temozolomide | decreases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Rotenone | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Okadaic Acid | increases expression | 1 |
Clinical trials (associated diseases)
197 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT05657860 | PHASE4 | COMPLETED | Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome |
| NCT05744479 | PHASE4 | RECRUITING | Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability |
| NCT06107829 | PHASE4 | WITHDRAWN | Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities |
| NCT06997198 | PHASE4 | NOT_YET_RECRUITING | Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities |
| NCT02270736 | PHASE3 | COMPLETED | Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability |
| NCT02304302 | PHASE2 | COMPLETED | Down Syndrome Memantine Follow-up Study |
| NCT03862950 | PHASE2 | COMPLETED | A Trial of Metformin in Individuals With Fragile X Syndrome (Met) |
| NCT04529226 | PHASE2 | UNKNOWN | Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis |
| NCT04821856 | PHASE2 | COMPLETED | Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability |
| NCT05273320 | PHASE1 | COMPLETED | Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities |
| NCT05301361 | PHASE1 | ENROLLING_BY_INVITATION | Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities |
| NCT06016764 | PHASE1 | COMPLETED | Use of MRI and cTBS for Catatonia in Autism |
| NCT06586827 | PHASE1 | COMPLETED | Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD |
| NCT07531940 | PHASE1 | NOT_YET_RECRUITING | Escalating Doses of Memantine in Down Syndrome (MEDS-123) |
| NCT03479476 | PHASE2/PHASE3 | COMPLETED | A Trial of Metformin in Individuals With Fragile X Syndrome |
| NCT02616796 | PHASE1/PHASE2 | COMPLETED | Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome |
| NCT06860672 | EARLY_PHASE1 | RECRUITING | Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation |
| NCT00597948 | Not specified | COMPLETED | Healthy Lifestyles for People With Intellectual Disabilities |
| NCT01087320 | Not specified | RECRUITING | Genome Medical Sequencing for Gene Discovery |
| NCT01652963 | Not specified | UNKNOWN | Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills |
| NCT01695395 | Not specified | COMPLETED | Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder |
| NCT01867554 | Not specified | COMPLETED | Research and Characterization of New Genes Involved in Intellectual Disability |
| NCT01915381 | Not specified | COMPLETED | Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities |
| NCT01988623 | Not specified | COMPLETED | Pivotal Response Treatment for Individuals With Intellectual Disabilities |
| NCT02099773 | Not specified | COMPLETED | Support Staff-client Interactions With Augmentative and Alternative Communication |
| NCT02136849 | Not specified | COMPLETED | Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic |
| NCT02225041 | Not specified | COMPLETED | Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood |
| NCT02414438 | Not specified | COMPLETED | Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study |
| NCT02451761 | Not specified | COMPLETED | Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability |
| NCT02461420 | Not specified | ACTIVE_NOT_RECRUITING | Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome |
| NCT02461459 | Not specified | ACTIVE_NOT_RECRUITING | Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC) |
| NCT02486081 | Not specified | COMPLETED | Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population |
| NCT02504502 | Not specified | COMPLETED | Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients |
| NCT02513277 | Not specified | COMPLETED | Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study |
| NCT02561754 | Not specified | COMPLETED | Weight Management for Adolescents With IDD |
| NCT02591446 | Not specified | COMPLETED | Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders |
| NCT02714868 | Not specified | COMPLETED | Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications) |
| NCT02721394 | Not specified | UNKNOWN | FCT With Young Children With ID in the UK: A Feasibility Project V.1 |
| NCT02746614 | Not specified | COMPLETED | Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability |
| NCT02836405 | Not specified | COMPLETED | TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.