TSPAN18

Summary

TSPAN18 (tetraspanin 18, HGNC:20660) is a protein-coding gene on chromosome 11p11.2, encoding Tetraspanin-18 (Q96SJ8). Plays a role in the cell surface localization of ORAI1 and may participate in the regulation of Ca(2+) signaling and the VWF release in response to inflammatory stimuli.

Involved in regulation of sprouting angiogenesis. Predicted to be located in membrane. Predicted to be active in plasma membrane.

Source: NCBI Gene 90139 — RefSeq curated summary.

At a glance

• Gene–disease (curated): intellectual disability (Limited, GenCC)
• GWAS associations: 8
• Clinical variants (ClinVar): 55 total
• MANE Select transcript: NM_130783

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20660
Approved symbol	TSPAN18
Name	tetraspanin 18
Location	11p11.2
Locus type	gene with protein product
Status	Approved
Aliases	TSPAN
Ensembl gene	ENSG00000157570
Ensembl biotype	protein_coding
OMIM	619399
Entrez	90139

Gene structure

Transcript identifiers

Ensembl transcripts: 32 — 27 protein_coding, 5 retained_intron

ENST00000340160, ENST00000517621, ENST00000518429, ENST00000519051, ENST00000520245, ENST00000520278, ENST00000520358, ENST00000520837, ENST00000520999, ENST00000521990, ENST00000533080, ENST00000533202, ENST00000533786, ENST00000860337, ENST00000860338, ENST00000860339, ENST00000860340, ENST00000860341, ENST00000860342, ENST00000860343, ENST00000860344, ENST00000860345, ENST00000860346, ENST00000860347, ENST00000860348, ENST00000924264, ENST00000924265, ENST00000924266, ENST00000924267, ENST00000955998, ENST00000955999, ENST00000956000

RefSeq mRNA: 1 — MANE Select: NM_130783 NM_130783

CCDS: CCDS7910

Canonical transcript exons

ENST00000520358 — 10 exons

Exon	Start	End
ENSE00001182625	44909705	44909899
ENSE00002115902	44860328	44860469
ENSE00002123068	44929131	44932423
ENSE00002125098	44764426	44764512
ENSE00002166589	44726962	44727287
ENSE00003565211	44917972	44918046
ENSE00003603250	44919817	44919999
ENSE00003610170	44926674	44926757
ENSE00003613540	44906407	44906479
ENSE00003691824	44919214	44919312

Expression profiles

Bgee: expression breadth ubiquitous, 194 present calls, max score 98.74.

FANTOM5 (CAGE): breadth broad, TPM avg 10.7706 / max 149.9996, expressed in 797 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
114010	10.4475	790
114012	0.1341	59
114013	0.1105	47
114014	0.0785	40

Top tissues by expression

240 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
cardiac muscle of right atrium	UBERON:0003379	98.74	gold quality
left ventricle myocardium	UBERON:0006566	97.18	gold quality
cardiac atrium	UBERON:0002081	96.20	gold quality
right atrium auricular region	UBERON:0006631	96.11	gold quality
kidney epithelium	UBERON:0004819	95.52	silver quality
apex of heart	UBERON:0002098	95.43	gold quality
cortical plate	UBERON:0005343	95.03	gold quality
smooth muscle tissue	UBERON:0001135	94.94	gold quality
myocardium	UBERON:0002349	94.80	gold quality
adrenal tissue	UBERON:0018303	94.66	gold quality
heart left ventricle	UBERON:0002084	94.45	gold quality
cardiac ventricle	UBERON:0002082	94.35	gold quality
ganglionic eminence	UBERON:0004023	94.33	gold quality
right adrenal gland	UBERON:0001233	93.44	gold quality
right adrenal gland cortex	UBERON:0035827	93.41	gold quality
ventricular zone	UBERON:0003053	93.36	gold quality
cerebellar hemisphere	UBERON:0002245	93.29	gold quality
left adrenal gland cortex	UBERON:0035825	93.23	gold quality
cerebellar cortex	UBERON:0002129	93.21	gold quality
adrenal cortex	UBERON:0001235	93.03	gold quality
left adrenal gland	UBERON:0001234	92.94	gold quality
lower esophagus muscularis layer	UBERON:0035833	92.89	gold quality
lower esophagus	UBERON:0013473	92.81	gold quality
heart	UBERON:0000948	92.78	gold quality
right hemisphere of cerebellum	UBERON:0014890	92.76	gold quality
adrenal gland	UBERON:0002369	92.66	gold quality
cerebellum	UBERON:0002037	92.52	gold quality
muscle layer of sigmoid colon	UBERON:0035805	92.03	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	91.66	gold quality
body of uterus	UBERON:0009853	91.62	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-8271	yes	15.25
E-ANND-3	yes	7.27

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

154 targeting TSPAN18, 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-6867-5P	100.00	82.21	3464
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-3185	99.99	68.12	1959
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-765	99.84	68.24	2442

Literature-anchored findings (GeneRIF, showing 6)

• These results confirm the significant association, in Han Chinese populations, of increased SCZ risk and the variant of the TSPAN18 gene containing the ‘A’ allele of SNP rs835784. (PMID:23505562)
• Meta-analysis results show no significant association between TSPAN18 gene and schizophrenia in the Han Chinese population indicating the gene is unlikely to be a major susceptibility gene for schizophrenia in this population. (PMID:26016498)
• The frequency of rs11038167 minor allele (A) was significantly higher only in female patients with thought disorder. Our result suggested that the TSPAN18 gene may be involved in the development of psychotic symptoms and contribute to clinical heterogeneity of schizophrenia. (PMID:27208512)
• Our results showed that two SNPs (rs11038167 and rs11038172) at TSPAN18, reported as genome-wide significant SCZ risk variants in Han Chinese, were entirely monomorphic in Europeans, indicating a deep between-population divergence at this gene locus. (PMID:27312590)
• The findings identify Tspan18 as a novel regulator of endothelial cell Orai1/Ca2+ signaling and von Willebrand factor release in response to inflammatory stimuli. (PMID:30573509)
• Tspan18 is a novel regulator of thrombo-inflammation. (PMID:32447449)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	tspan18b	ENSDARG00000015015
danio_rerio	tspan18a	ENSDARG00000056656
mus_musculus	Tspan18	ENSMUSG00000027217
rattus_norvegicus	Tspan18	ENSRNOG00000008758

Paralogs (32): TSPAN6 (ENSG00000000003), CD9 (ENSG00000010278), TSPAN9 (ENSG00000011105), TSPAN17 (ENSG00000048140), TSPAN32 (ENSG00000064201), CD82 (ENSG00000085117), TSPAN15 (ENSG00000099282), CD37 (ENSG00000104894), UPK1A (ENSG00000105668), TSPAN12 (ENSG00000106025), TSPAN13 (ENSG00000106537), TSPAN14 (ENSG00000108219), CD81 (ENSG00000110651), TSPAN11 (ENSG00000110900), PRPH2 (ENSG00000112619), UPK1B (ENSG00000114638), TSPAN1 (ENSG00000117472), TSPAN8 (ENSG00000127324), TSPAN16 (ENSG00000130167), TSPAN2 (ENSG00000134198), CD63 (ENSG00000135404), TSPAN31 (ENSG00000135452), TSPAN3 (ENSG00000140391), CD53 (ENSG00000143119), ROM1 (ENSG00000149489), TSPAN7 (ENSG00000156298), TSPAN33 (ENSG00000158457), TSPAN5 (ENSG00000168785), CD151 (ENSG00000177697), TSPAN10 (ENSG00000182612), TSPAN4 (ENSG00000214063), TSPAN19 (ENSG00000231738)

Protein

Protein identifiers

Tetraspanin-18 — Q96SJ8 (reviewed: Q96SJ8)

All UniProt accessions (7): Q96SJ8, E5RFP3, E5RFV0, E9PKD8, E9PL40, E9PPB7, H0YB98

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in the cell surface localization of ORAI1 and may participate in the regulation of Ca(2+) signaling and the VWF release in response to inflammatory stimuli.

Subunit / interactions. Interacts with ORAI1; this interaction regulates ORAI1 exit from the endoplasmic (ER), and/or Golgi, and trafficking to the cell surface.

Subcellular location. Membrane.

Tissue specificity. Highly expressed in primary endothelial cells. Expressed in the embryo heart. Weakly expressed the embryo skeletal muscle.

Similarity. Belongs to the tetraspanin (TM4SF) family.

RefSeq proteins (1): NP_570139* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000301	Tetraspanin_animals	Family
IPR008952	Tetraspanin_EC2_sf	Homologous_superfamily
IPR018499	Tetraspanin/Peripherin	Family
IPR018503	Tetraspanin_CS	Conserved_site

Pfam: PF00335

UniProt features (13 total): topological domain 5, transmembrane region 4, glycosylation site 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96SJ8-F1	90.53	0.69

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): 111, 129

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 126 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, ACTACCT_MIR196A_MIR196B, GOBP_INFLAMMATORY_RESPONSE, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_EXOCYTOSIS, GOBP_SPROUTING_ANGIOGENESIS, MODULE_195, GOBP_BLOOD_VESSEL_MORPHOGENESIS, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, GOBP_SECRETION, GOBP_CALCIUM_ION_REGULATED_EXOCYTOSIS, GOBP_HEMOSTASIS

GO Biological Process (7): inflammatory response (GO:0006954), hemostasis (GO:0007599), calcium-ion regulated exocytosis (GO:0017156), establishment of localization in cell (GO:0051649), regulation of sprouting angiogenesis (GO:1903670), protein localization to cell periphery (GO:1990778), regulation of store-operated calcium entry (GO:2001256)

GO Molecular Function (2): transmembrane transporter binding (GO:0044325), protein binding (GO:0005515)

GO Cellular Component (3): plasma membrane (GO:0005886), cell periphery (GO:0071944), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
defense response	1
regulation of body fluid levels	1
regulated exocytosis	1
establishment of localization	1
cellular localization	1
sprouting angiogenesis	1
regulation of angiogenesis	1
intracellular protein localization	1
store-operated calcium entry	1
regulation of calcium ion transport	1
protein binding	1
binding	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

504 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TSPAN18	ADAM10	O14672	761
TSPAN18	PTGFRN	Q9P2B2	644
TSPAN18	TSPAN32	Q96QS1	489
TSPAN18	TSPAN13	O95857	481
TSPAN18	ORAI1	Q96D31	478
TSPAN18	NKAPL	Q5M9Q1	468
TSPAN18	EPCAM	P16422	464
TSPAN18	CD44	P16070	455
TSPAN18	TSG101	Q99816	408
TSPAN18	ZKSCAN4	Q969J2	400
TSPAN18	GHITM	Q9H3K2	378
TSPAN18	K7ERJ3	K7ERJ3	377
TSPAN18	TXNL4B	Q9NX01	351
TSPAN18	IGSF8	Q969P0	348
TSPAN18	ZSCAN31	Q96LW9	348

IntAct

5 interactions, top by confidence:

A	B	Type	Score
TSPAN18	FITM2	psi-mi:“MI:0915”(physical association)	0.590
TSPAN18	ITGA6	psi-mi:“MI:0914”(association)	0.350
TSPAN18	iucD	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (33): RNF130 (Affinity Capture-MS), FITM2 (Affinity Capture-MS), TSPAN18 (Two-hybrid), TSPAN18 (Two-hybrid), TSPAN18 (Two-hybrid), TSPAN18 (Two-hybrid), GRM2 (Two-hybrid), TMCO5A (Two-hybrid), CD151 (Two-hybrid), TMEM120A (Two-hybrid), GIMAP5 (Two-hybrid), FITM2 (Affinity Capture-MS), HYAL2 (Affinity Capture-MS), HS6ST2 (Affinity Capture-MS), ANKRD46 (Affinity Capture-MS)

ESM2 similar proteins: A0A8M2B5N2, A0A8V0ZLT4, A1L157, O00322, O60637, O75841, P11049, P19075, P21926, P30409, P30413, P30932, P31053, P38572, P38573, P40239, P40240, P40241, Q0D289, Q2KHY8, Q2MJQ7, Q3SZR9, Q4R4Z3, Q4R7W6, Q566D0, Q568Y5, Q58CY8, Q5RDV7, Q5RE11, Q5RH71, Q61470, Q6AYR9, Q6GQF5, Q6P0C6, Q6ZUX7, Q80WR1, Q8WMQ3, Q91Y55, Q925N4, Q96FX8

Diamond homologs: A0A8M2B5N2, A0A8V0ZLT4, B0BM39, B3VSC2, B5X3I6, O14817, O60635, O75954, O97703, P11049, P60033, P60034, Q06AA5, Q11098, Q26499, Q3T0S3, Q4R7W6, Q4V8E0, Q58CY8, Q5RAP3, Q5RC27, Q61470, Q6AYR9, Q6DCQ3, Q6GMK6, Q80WR1, Q8BJU2, Q922J6, Q96SJ8, Q99J59, Q9DCK3, O60636, P19397, P24485, P30932, P35762, P40240, P62079, P62080, Q17QJ5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

55 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	36
Likely benign	3
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

2925 predictions. Top by Δscore:

Variant	Effect	Δscore
11:44727227:G:GT	donor_gain	1.0000
11:44727228:A:T	donor_gain	1.0000
11:44756202:A:T	donor_gain	1.0000
11:44764425:GA:G	acceptor_gain	1.0000
11:44764425:GAGT:G	acceptor_gain	1.0000
11:44906475:TATTT:T	donor_gain	1.0000
11:44906478:TT:T	donor_gain	1.0000
11:44906480:G:GG	donor_gain	1.0000
11:44909682:A:AG	acceptor_gain	1.0000
11:44909683:A:G	acceptor_gain	1.0000
11:44909684:C:G	acceptor_gain	1.0000
11:44909691:A:AG	acceptor_gain	1.0000
11:44909691:ACT:A	acceptor_gain	1.0000
11:44909691:ACTG:A	acceptor_gain	1.0000
11:44909692:C:G	acceptor_gain	1.0000
11:44909693:T:TA	acceptor_gain	1.0000
11:44909694:G:A	acceptor_gain	1.0000
11:44909699:GAGCA:G	acceptor_loss	1.0000
11:44909700:AGCAG:A	acceptor_loss	1.0000
11:44909702:CAGCT:C	acceptor_loss	1.0000
11:44909703:AGCTG:A	acceptor_gain	1.0000
11:44909704:GCTGG:G	acceptor_gain	1.0000
11:44909896:ATTT:A	donor_gain	1.0000
11:44909897:TTT:T	donor_gain	1.0000
11:44909897:TTTG:T	donor_loss	1.0000
11:44909898:TTG:T	donor_loss	1.0000
11:44909899:TGTG:T	donor_loss	1.0000
11:44909900:G:GG	donor_gain	1.0000
11:44909900:GTGA:G	donor_loss	1.0000
11:44909901:TGAG:T	donor_loss	1.0000

AlphaMissense

1624 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:44919292:T:A	W138R	0.997
11:44919292:T:C	W138R	0.997
11:44919851:T:G	F156C	0.997
11:44919823:T:A	C147S	0.996
11:44919823:T:C	C147R	0.996
11:44919824:G:C	C147S	0.996
11:44919830:G:A	G149E	0.996
11:44906467:T:A	N17K	0.995
11:44906467:T:G	N17K	0.995
11:44909846:G:C	G69R	0.995
11:44919242:T:C	L121P	0.995
11:44919826:T:A	C148S	0.995
11:44919827:G:A	C148Y	0.995
11:44919827:G:C	C148S	0.995
11:44919829:G:T	G149W	0.995
11:44926678:G:A	C207Y	0.995
11:44919825:C:G	C147W	0.994
11:44919910:T:C	C176R	0.994
11:44919913:T:A	C177S	0.994
11:44919914:G:C	C177S	0.994
11:44926674:G:T	G206C	0.994
11:44926677:T:A	C207S	0.994
11:44926677:T:C	C207R	0.994
11:44926678:G:C	C207S	0.994
11:44926679:T:G	C207W	0.994
11:44906475:T:A	I20K	0.993
11:44909855:G:C	G72R	0.993
11:44919824:G:A	C147Y	0.993
11:44919830:G:T	G149V	0.993
11:44919910:T:A	C176S	0.993

dbSNP variants (sampled 300 via entrez): RS1000011903 (11:44809965 G>A), RS1000056565 (11:44928002 C>G), RS1000059425 (11:44763981 C>T), RS1000063182 (11:44891073 G>A), RS1000075660 (11:44863459 C>T), RS1000079614 (11:44803451 C>T), RS1000088714 (11:44928234 G>A,T), RS1000100279 (11:44844597 C>T), RS1000105345 (11:44783738 G>C), RS1000123735 (11:44744195 A>G), RS1000133459 (11:44823408 G>A), RS1000134141 (11:44840039 T>A,G), RS1000170403 (11:44760858 C>T), RS1000171325 (11:44843271 G>A,C), RS1000175516 (11:44874012 G>A)

Disease associations

OMIM: gene MIM:619399 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
intellectual disability	Limited	Autosomal recessive

Mondo (1): intellectual disability (MONDO:0001071)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST001299_2	Schizophrenia	1.000000e-11
GCST003675_2	Obstructive sleep apnea trait (average respiratory event duration)	6.000000e-08
GCST005411_11	Thrombin-activatable fibrinolysis inhibitor activation peptide	3.000000e-07
GCST006193_3	Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test)	1.000000e-09
GCST006194_6	Diastolic blood pressure x smoking status (current vs non-current) interaction (1df test)	1.000000e-08
GCST006412_118	Intraocular pressure	3.000000e-08
GCST010397_25	Gut microbiota (bacterial taxa, rank normal transformation method)	1.000000e-06
GCST012020_204	Serum metabolite levels	3.000000e-12

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0007817	sleep apnea measurement
EFO:0006336	diastolic blood pressure
EFO:0006527	smoking status measurement
EFO:0004695	intraocular pressure measurement
EFO:0007874	gut microbiome measurement

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

45 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases methylation, affects cotreatment, increases expression, decreases expression	8
sodium arsenite	affects splicing, decreases expression, increases abundance, increases expression	4
trichostatin A	affects cotreatment, decreases expression	3
Benzo(a)pyrene	increases methylation, affects methylation, decreases expression	3
Tobacco Smoke Pollution	affects expression, decreases expression	3
bisphenol S	affects cotreatment, decreases methylation, decreases expression	2
Aflatoxin B1	affects methylation, increases methylation	2
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
bisphenol A	decreases methylation	1
butyraldehyde	increases expression	1
tobacco tar	increases expression	1
benzo(e)pyrene	decreases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
aflatoxin B2	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
pentanal	increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	increases reaction, affects binding	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
ICG 001	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Sunitinib	decreases expression	1
Zoledronic Acid	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Aldehydes	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
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