MDGA2

gene
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Summary

MDGA2 (MAM domain containing glycosylphosphatidylinositol anchor 2, HGNC:19835) is a protein-coding gene on chromosome 14q21.3, encoding MAM domain-containing glycosylphosphatidylinositol anchor protein 2 (Q7Z553). May be involved in cell-cell interactions.

Predicted to be involved in regulation of synapse organization and spinal cord motor neuron differentiation. Predicted to act upstream of or within several processes, including motor behavior; negative regulation of neuron apoptotic process; and neuron migration. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in GABA-ergic synapse; glutamatergic synapse; and postsynaptic density membrane.

Source: NCBI Gene 161357 — RefSeq curated summary.

At a glance

  • GWAS associations: 18
  • Clinical variants (ClinVar): 62 total — 1 likely-pathogenic
  • Cancer driver (intOGen): activating (oncogene-like) across 1 cancer types
  • MANE Select transcript: NM_001113498

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:19835
Approved symbolMDGA2
NameMAM domain containing glycosylphosphatidylinositol anchor 2
Location14q21.3
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000139915
Ensembl biotypeprotein_coding
OMIM611128
Entrez161357

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 4 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000357362, ENST00000399232, ENST00000472499, ENST00000482848, ENST00000486952, ENST00000554762, ENST00000555521, ENST00000557238, ENST00000557516

RefSeq mRNA: 2 — MANE Select: NM_001113498 NM_001113498, NM_182830

CCDS: CCDS41948, CCDS45098

Canonical transcript exons

ENST00000399232 — 17 exons

ExonStartEnd
ENSE000014308774767451747675605
ENSE000015370984684009246842019
ENSE000037035374685502446855154
ENSE000037037444714407847144274
ENSE000037048174721802147218195
ENSE000037055524713171447131846
ENSE000037057524684576646845871
ENSE000037057944688204446882221
ENSE000037066264687343346873591
ENSE000037073554687748946877509
ENSE000037079484730141147301550
ENSE000037088814709685447097123
ENSE000037098074687404546874200
ENSE000037099284692001246920160
ENSE000037101814706124947061578
ENSE000037105334703501147035304
ENSE000037112654695737446957643

Expression profiles

Bgee: expression breadth broad, 85 present calls, max score 84.63.

FANTOM5 (CAGE): breadth broad, TPM avg 3.1512 / max 421.6553, expressed in 387 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter IDTPM avgSamples expressed
1430662.4759339
1430630.268394
1430640.179880
1430650.173382
1430610.053932

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
cortical plateUBERON:000534384.63gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047383.82gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099182.25gold quality
ventricular zoneUBERON:000305372.14gold quality
prefrontal cortexUBERON:000045170.56gold quality
secondary oocyteCL:000065568.21silver quality
corpus callosumUBERON:000233667.33gold quality
C1 segment of cervical spinal cordUBERON:000646965.60gold quality
ganglionic eminenceUBERON:000402365.52gold quality
frontal cortexUBERON:000187064.63gold quality
neocortexUBERON:000195064.60gold quality
spinal cordUBERON:000224063.90gold quality
Brodmann (1909) area 9UBERON:001354063.61gold quality
dorsolateral prefrontal cortexUBERON:000983463.34gold quality
testisUBERON:000047363.32gold quality
stromal cell of endometriumCL:000225562.91gold quality
primary visual cortexUBERON:000243662.65gold quality
adrenal tissueUBERON:001830362.58gold quality
left testisUBERON:000453362.49gold quality
anterior cingulate cortexUBERON:000983562.46gold quality
cerebral cortexUBERON:000095662.23gold quality
right testisUBERON:000453460.82gold quality
hypothalamusUBERON:000189860.55gold quality
right frontal lobeUBERON:000281059.48gold quality
occipital lobeUBERON:000202159.38gold quality
amygdalaUBERON:000187659.00gold quality
superior frontal gyrusUBERON:000266158.59gold quality
forebrainUBERON:000189057.52gold quality
Brodmann (1909) area 46UBERON:000648356.72silver quality
Ammon’s hornUBERON:000195456.71gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

ExperimentMarker?Max mean expression
E-HCAD-35yes3136.12
E-GEOD-180759yes2903.69
E-HCAD-25yes19.23
E-ANND-3yes5.83
E-GEOD-93593yes4.38

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

2 targets.

TargetRegulation
CDKN1AActivation
TP53Activation

Upstream regulators (CollecTRI, top): KLF6

miRNA regulators (miRDB)

193 targeting MDGA2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-9-5P100.0072.282361
HSA-MIR-5692A100.0074.406850
HSA-MIR-4795-3P100.0074.624024
HSA-MIR-4682100.0068.891258
HSA-MIR-3163100.0077.238605
HSA-MIR-3646100.0073.565283
HSA-MIR-340-5P100.0072.504437
HSA-MIR-126-5P100.0072.713180
HSA-MIR-428299.9975.366408
HSA-MIR-548AW99.9972.573559
HSA-MIR-569699.9872.364487
HSA-MIR-806899.9873.852376
HSA-MIR-60799.9773.625593
HSA-MIR-50799.9770.111915
HSA-MIR-3065-5P99.9771.563281
HSA-MIR-55799.9670.011640
HSA-MIR-1250-3P99.9670.044038
HSA-MIR-426799.9666.532368
HSA-MIR-3912-5P99.9566.11925
HSA-MIR-651-3P99.9473.485177
HSA-MIR-9983-3P99.9471.483631
HSA-MIR-548AS-5P99.9471.223482
HSA-MIR-218-5P99.9372.222103
HSA-MIR-335-3P99.9373.364958
HSA-MIR-4760-3P99.9370.502385
HSA-MIR-4778-3P99.9370.401818
HSA-MIR-6835-3P99.9370.492904
HSA-MIR-450B-5P99.9271.483175
HSA-MIR-10523-5P99.9169.222038
HSA-MIR-498-3P99.9171.271114

Literature-anchored findings (GeneRIF, showing 7)

  • MAMDC1 gene is implicated in neuroticism. (PMID:18762592)
  • No association of rs7151262 with neuroticism was found (PMID:19440164)
  • A novel uncharacterized gene, MAMDC1 (MAM domain containing glycosylphosphatidylinositol anchor 2, also known as MDGA2, MIM 611128), represents a putative susceptibility gene for systemic lupus erythematosus. (PMID:19997561)
  • This finding provides further support for a link between variants in the MDGA2 gene and specific neuroticism-related phenotypes. (PMID:21399569)
  • This study demonistrated suggested taht Rostral growth of commissural axons requires the cell adhesion molecule MDGA2 (PMID:21542908)
  • Polymorphisms of rs961616 in MAMDC1 gene were associated with rash and photosensitivity, but not disease risk, of systemic lupus erythematosus in Chinese population. (PMID:21660437)
  • A novel tumour suppressor gene, MDGA2, which is frequently inactivated by promoter methylation in Gastric cancer was identified. Promoter hypermethylation of MDGA2 represents a prognostic biomarker in patients with early stage Gastric cancer. (PMID:26206665)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriomdga2aENSDARG00000024017
ENSDARG00000112111
mus_musculusMdga2ENSMUSG00000034912
rattus_norvegicusMdga2ENSRNOG00000000618

Paralogs (4): MDGA1 (ENSG00000112139), MAMDC2 (ENSG00000165072), MAMDC4 (ENSG00000177943), MALRD1 (ENSG00000204740)

Protein

Protein identifiers

MAM domain-containing glycosylphosphatidylinositol anchor protein 2Q7Z553 (reviewed: Q7Z553)

Alternative names: MAM domain-containing protein 1

All UniProt accessions (5): Q7Z553, E9PMG9, G3V5U0, G3V5Z1, H0YJ52

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in cell-cell interactions.

Subunit / interactions. Interacts (through the Ig-like domains) with NLGN2.

Subcellular location. Cell membrane.

Tissue specificity. Detected in Leydig cells, syncytiotrophoblast, duodenal villi epithelial cells and neutrophils from kidney and cutaneous squamous cell carcinoma (at protein level).

Isoforms (3)

UniProt IDNamesCanonical?
Q7Z553-11yes
Q7Z553-22
Q7Z553-33

RefSeq proteins (2): NP_001106970, NP_878250 (=MANE)

Domains & families (InterPro)

IDNameType
IPR000998MAM_domDomain
IPR003598Ig_sub2Domain
IPR003599Ig_subDomain
IPR003961FN3_domDomain
IPR007110Ig-like_domDomain
IPR013098Ig_I-setDomain
IPR013320ConA-like_dom_sfHomologous_superfamily
IPR013783Ig-like_foldHomologous_superfamily
IPR036116FN3_sfHomologous_superfamily
IPR036179Ig-like_dom_sfHomologous_superfamily
IPR050958Cell_Adh-Cytoskel_OrgnFamily

Pfam: PF00629, PF07679, PF13927

UniProt features (37 total): domain 8, glycosylation site 8, sequence conflict 8, disulfide bond 6, splice variant 2, signal peptide 1, chain 1, lipid moiety-binding region 1, propeptide 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q7Z553-F184.960.56

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): 931

Disulfide bonds (6): 62–110, 159–216, 264–310, 359–417, 465–515, 561–611

Glycosylation sites (8): 92, 213, 237, 434, 443, 504, 610, 703

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

IDPathway
R-HSA-163125Post-translational modification: synthesis of GPI-anchored proteins
R-HSA-392499Metabolism of proteins
R-HSA-597592Post-translational protein modification

MSigDB gene sets: 162 (showing top): GOBP_SPINAL_CORD_DEVELOPMENT, GOBP_NEUROGENESIS, TAKADA_GASTRIC_CANCER_COPY_NUMBER_DN, GOBP_CELL_DIFFERENTIATION_IN_SPINAL_CORD, GOBP_SPINAL_CORD_MOTOR_NEURON_DIFFERENTIATION, AGGCACT_MIR5153P, GOBP_VENTRAL_SPINAL_CORD_DEVELOPMENT, GTGCCTT_MIR506, DAWSON_METHYLATED_IN_LYMPHOMA_TCL1, AAACCAC_MIR140, NF1_Q6_01, IRF1_Q6, CAATGCA_MIR33, GOBP_CENTRAL_NERVOUS_SYSTEM_NEURON_DIFFERENTIATION, AAAGACA_MIR511

GO Biological Process (2): nervous system development (GO:0007399), spinal cord motor neuron differentiation (GO:0021522)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (4): extracellular region (GO:0005576), plasma membrane (GO:0005886), side of membrane (GO:0098552), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

CategoryPathways
Post-translational protein modification1
Metabolism of proteins1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure3
membrane2
system development1
cell differentiation in spinal cord1
ventral spinal cord development1
central nervous system neuron differentiation1
binding1
cell periphery1
leaflet of membrane bilayer1

Protein interactions and networks

STRING

1342 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
MDGA2NLGN2Q8NFZ4721
MDGA2NLGN1Q8N2Q7616
MDGA2SPPL2CQ8IUH8576
MDGA2PDE4DQ08499501
MDGA2FN1P02751469
MDGA2SIGLEC15Q6ZMC9463
MDGA2PRSS35Q8N3Z0458
MDGA2PTPRMP28827451
MDGA2GALNT13Q8IUC8450
MDGA2DCLK1O15075437
MDGA2NLGN3Q9NZ94431
MDGA2MRTFBQ9ULH7426
MDGA2HS3ST5Q8IZT8423
MDGA2FBXO33Q7Z6M2422
MDGA2CCL26Q9Y258419

IntAct

2 interactions, top by confidence:

ABTypeScore
MRPL12GTPBP10psi-mi:“MI:0914”(association)0.350

BioGRID (7): MDGA2 (Affinity Capture-RNA), MDGA2 (Affinity Capture-RNA), MDGA2 (Co-fractionation), MDGA2 (Co-fractionation), NCKAP5L (Co-fractionation), SLC38A7 (Co-fractionation), MDGA2 (Affinity Capture-RNA)

ESM2 similar proteins: A0A8M2B818, A3KPA0, B0JYH6, O55005, O89026, O94898, P0DPA2, P16170, P17790, P36335, P40190, P57087, P57097, P60755, P60756, P85171, Q00560, Q0PMG2, Q0WYX8, Q12866, Q15198, Q15223, Q1WIM2, Q2PFX1, Q52KR2, Q58EG3, Q5BIP2, Q5RJP7, Q60805, Q61490, Q66KX2, Q68FQ2, Q6DJ83, Q6P3A4, Q6PE55, Q6X936, Q7Z553, Q7ZXX1, Q80W68, Q8BLQ9

Diamond homologs: A2AJX4, B3EWZ5, B3EWZ6, B3EX02, C0HL13, O75581, O88572, P35953, P60755, P60756, P85171, P97435, P98072, P98073, P98074, Q0PMG2, Q0WYX8, Q2PC93, Q5VYJ5, Q7Z553, Q8NFP4, Q8QFX6, Q9GMT4, O14786, O35375, P28824, P28825, P79795, P97333, Q16820, Q61847, Q64230, Q9QWJ9, A2ARV4, O14522, O60462, P35822, P98157, P98158, P98164

SIGNOR signaling

4 interactions.

AEffectBMechanism
MDGA2down-regulatesProliferation
MDGA2“up-regulates quantity by stabilization”DMAP1binding
MDGA2“up-regulates quantity by expression”TP53“transcriptional regulation”
MDGA2“up-regulates quantity by expression”CDKN1A“transcriptional regulation”

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: activating (oncogene-like) across 1 cancer types — MEL.

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic1
Uncertain significance46
Likely benign2
Benign3

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
1708469NM_001113498.3(MDGA2):c.278_279dup (p.Ala94fs)Likely pathogenic

SpliceAI

4551 predictions. Top by Δscore:

VariantEffectΔscore
14:46845757:GATAC:Gdonor_loss1.0000
14:46845758:ATACT:Adonor_loss1.0000
14:46845759:TACTT:Tdonor_loss1.0000
14:46845760:ACT:Adonor_loss1.0000
14:46845761:CT:Cdonor_loss1.0000
14:46845762:TT:Tdonor_loss1.0000
14:46845763:TA:Tdonor_loss1.0000
14:46845764:A:ACdonor_gain1.0000
14:46845764:ACT:Adonor_gain1.0000
14:46845764:ACTC:Adonor_loss1.0000
14:46845765:C:CCdonor_gain1.0000
14:46845765:C:Gdonor_loss1.0000
14:46845765:CT:Cdonor_gain1.0000
14:46845765:CTC:Cdonor_gain1.0000
14:46845765:CTCTT:Cdonor_gain1.0000
14:46845868:TGAG:Tacceptor_gain1.0000
14:46873593:T:Cacceptor_gain1.0000
14:46874040:CATA:Cdonor_loss1.0000
14:46874043:A:Cdonor_loss1.0000
14:46874044:CC:Cdonor_loss1.0000
14:46874044:CCTT:Cdonor_gain1.0000
14:46874047:T:Adonor_gain1.0000
14:46874198:CTC:Cacceptor_gain1.0000
14:46874201:C:CCacceptor_gain1.0000
14:46877487:A:ACdonor_gain1.0000
14:46877488:C:CCdonor_gain1.0000
14:46882040:TTA:Tdonor_loss1.0000
14:46882041:TACC:Tdonor_gain1.0000
14:46882042:A:ACdonor_gain1.0000
14:46882042:AC:Adonor_gain1.0000

AlphaMissense

6647 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
14:46855066:C:AW878C1.000
14:46855066:C:GW878C1.000
14:46855068:A:GW878R1.000
14:46855068:A:TW878R1.000
14:46874127:C:AW768C1.000
14:46874127:C:GW768C1.000
14:46874129:A:GW768R1.000
14:46874129:A:TW768R1.000
14:46882103:A:GL717P1.000
14:46920074:A:GW657R1.000
14:46920074:A:TW657R1.000
14:46957530:A:GW576R1.000
14:46957530:A:TW576R1.000
14:47035016:A:TV536D1.000
14:47035078:A:CC515W1.000
14:47035080:A:GC515R1.000
14:47035086:A:CY513D1.000
14:47035192:C:AW477C1.000
14:47035192:C:GW477C1.000
14:47035194:A:GW477R1.000
14:47035194:A:TW477R1.000
14:47035230:A:GC465R1.000
14:47061316:A:CC417W1.000
14:47061317:C:TC417Y1.000
14:47061318:A:GC417R1.000
14:47061324:A:CY415D1.000
14:47061329:C:TG413E1.000
14:47061330:C:AG413W1.000
14:47061335:T:AD411V1.000
14:47061335:T:CD411G1.000

dbSNP variants (sampled 300 via entrez): RS1000010745 (14:46866629 T>C), RS1000014846 (14:47399765 TA>T,TAA), RS1000015536 (14:47417935 A>G), RS1000016283 (14:47127534 G>C,T), RS1000018385 (14:47406676 C>A,T), RS1000018405 (14:47586541 C>T), RS1000021031 (14:47531162 G>A), RS1000028480 (14:47135871 C>G,T), RS1000029684 (14:47625581 T>C), RS1000037307 (14:47252001 G>A,T), RS1000040421 (14:47088577 A>G,T), RS1000041444 (14:47009571 C>T), RS1000044300 (14:47199663 T>C), RS1000045762 (14:46910741 C>T), RS1000048935 (14:47080831 A>G)

Disease associations

OMIM: gene MIM:611128 | disease phenotypes: MIM:615873

GenCC curated gene-disease

Mondo (2): intellectual disability (MONDO:0001071), ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder (MONDO:0014379)

Orphanet (2): Helsmoortel-Van der Aa syndrome (Orphanet:404448), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

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

GWAS associations

18 associations (top):

StudyTraitp-value
GCST000080_13Hemostatic factors and hematological phenotypes2.000000e-07
GCST000226_1Neuroticism7.000000e-07
GCST001453_1Sexual dysfunction (SSRI/SNRI-related)3.000000e-07
GCST001476_13Response to tocilizumab in rheumatoid arthritis2.000000e-07
GCST001762_141Obesity-related traits3.000000e-07
GCST001974_2Idiopathic pulmonary fibrosis4.000000e-06
GCST003059_18Parkinson’s disease1.000000e-06
GCST003262_530Post bronchodilator FEV13.000000e-06
GCST003264_1369Post bronchodilator FEV1/FVC ratio8.000000e-08
GCST003784_14Multiple system atrophy4.000000e-06
GCST004744_4Lung adenocarcinoma3.000000e-06
GCST005566_20Insomnia3.000000e-07
GCST006427_32Depression in smokers4.000000e-06
GCST006460_11Bronchopulmonary dysplasia in preterm infants3.000000e-06
GCST007001_7Cerebrospinal AB1-42 levels in normal cognition5.000000e-07
GCST008476_11Emphysema annual change measurement in smokers (percent low attenuation area)8.000000e-06
GCST010988_537Adult body size9.000000e-14
GCST90000047_248Age at first sexual intercourse2.000000e-12

EFO canonical traits (8, from GWAS)

EFO IDTrait name
EFO:0004714sexual dysfunction
EFO:0004810interleukin-6 measurement
EFO:0000768idiopathic pulmonary fibrosis
EFO:0004314forced expiratory volume
EFO:0004713FEV/FVC ratio
EFO:0004670beta-amyloid 1-42 measurement
EFO:0007626emphysema imaging measurement
EFO:0009749age at first sexual intercourse measurement

MeSH disease descriptors (1)

DescriptorNameTree numbers
D008607Intellectual DisabilityC10.597.606.360; 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)

PharmGKB clinical annotations

1 annotations.

VariantTypeLevelDrugsPhenotypes
rs1160351Toxicity3fluvoxamine;milnacipran;paroxetineMajor Depressive Disorder

PharmGKB variants

1 variants.

VariantGenesLevelScore#Clin annotsDrugs
rs1160351MDGA230.001fluvoxamine;milnacipran;paroxetine

CTD chemical–gene interactions

14 total (human), top 14 by PubMed support.

ChemicalActions (top 5)PubMed papers
sodium arseniteaffects splicing, decreases expression2
Aflatoxin B1decreases expression, decreases methylation2
aristolochic acid Idecreases expression1
methyleugenoldecreases expression1
trichostatin Aincreases expression1
CGP 52608affects binding, increases reaction1
bisphenol Sdecreases methylation1
Resveratroldecreases expression, affects cotreatment1
Sunitinibincreases expression1
Benzo(a)pyreneaffects methylation, increases methylation1
Leadaffects expression1
Plant Extractsaffects cotreatment, decreases expression1
Triclosandecreases expression1
Valproic Acidincreases expression1

Clinical trials (associated diseases)

199 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT05657860PHASE4COMPLETEDGuanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479PHASE4RECRUITINGMetformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829PHASE4WITHDRAWNValbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198PHASE4NOT_YET_RECRUITINGDeutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736PHASE3COMPLETEDClinical 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
NCT02304302PHASE2COMPLETEDDown Syndrome Memantine Follow-up Study
NCT03862950PHASE2COMPLETEDA Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226PHASE2UNKNOWNStudy to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856PHASE2COMPLETEDEvaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320PHASE1COMPLETEDClinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361PHASE1ENROLLING_BY_INVITATIONSensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764PHASE1COMPLETEDUse of MRI and cTBS for Catatonia in Autism
NCT06586827PHASE1COMPLETEDImpact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940PHASE1NOT_YET_RECRUITINGEscalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476PHASE2/PHASE3COMPLETEDA Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796PHASE1/PHASE2COMPLETEDEffects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672EARLY_PHASE1RECRUITINGClinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948Not specifiedCOMPLETEDHealthy Lifestyles for People With Intellectual Disabilities
NCT01087320Not specifiedRECRUITINGGenome Medical Sequencing for Gene Discovery
NCT01652963Not specifiedUNKNOWNPicture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395Not specifiedCOMPLETEDMental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554Not specifiedCOMPLETEDResearch and Characterization of New Genes Involved in Intellectual Disability
NCT01915381Not specifiedCOMPLETEDImproving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623Not specifiedCOMPLETEDPivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773Not specifiedCOMPLETEDSupport Staff-client Interactions With Augmentative and Alternative Communication
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