LYSET
geneOn this page
Also known as DKFZP564F1123GCAF
Summary
LYSET (lysosomal enzyme trafficking factor, HGNC:20218) is a protein-coding gene on chromosome 14q32.12, encoding Lysosomal enzyme trafficking factor (Q8N6I4). Required for mannose-6-phosphate-dependent trafficking of lysosomal enzymes.
Involved in lysosomal transport; lysosome organization; and regulation of vesicle-mediated transport. Located in Golgi cisterna.
Source: NCBI Gene 26175 — RefSeq curated summary.
At a glance
- Gene–disease (curated): dysostosis multiplex, Ain-Naz type (Strong, GenCC)
- GWAS associations: 2
- Clinical variants (ClinVar): 30 total — 1 pathogenic, 2 likely-pathogenic
- MANE Select transcript:
NM_001098621
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20218 |
| Approved symbol | LYSET |
| Name | lysosomal enzyme trafficking factor |
| Location | 14q32.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZP564F1123, GCAF |
| Ensembl gene | ENSG00000153485 |
| Ensembl biotype | protein_coding |
| OMIM | 619332 |
| Entrez | 26175 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 6 protein_coding
ENST00000283534, ENST00000415050, ENST00000857222, ENST00000928792, ENST00000928793, ENST00000928794
RefSeq mRNA: 2 — MANE Select: NM_001098621
NM_001098621, NM_015676
CCDS: CCDS41980, CCDS45158
Canonical transcript exons
ENST00000415050 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001687352 | 93186260 | 93188463 |
| ENSE00001745397 | 93185317 | 93185485 |
Expression profiles
Bgee: expression breadth ubiquitous, 137 present calls, max score 93.31.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.4689 / max 482.8426, expressed in 1777 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 141163 | 9.1972 | 1770 |
| 141167 | 4.3490 | 520 |
| 141165 | 0.3243 | 137 |
| 141166 | 0.3104 | 137 |
| 141168 | 0.2881 | 97 |
Top tissues by expression
137 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| islet of Langerhans | UBERON:0000006 | 93.31 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 92.19 | gold quality |
| rectum | UBERON:0001052 | 90.57 | gold quality |
| endometrium | UBERON:0001295 | 90.14 | gold quality |
| monocyte | CL:0000576 | 89.99 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 89.93 | gold quality |
| ventricular zone | UBERON:0003053 | 89.93 | gold quality |
| leukocyte | CL:0000738 | 89.90 | gold quality |
| apex of heart | UBERON:0002098 | 89.65 | gold quality |
| gastrocnemius | UBERON:0001388 | 89.52 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 89.52 | gold quality |
| pancreas | UBERON:0001264 | 89.27 | gold quality |
| right adrenal gland | UBERON:0001233 | 89.26 | gold quality |
| muscle of leg | UBERON:0001383 | 89.15 | gold quality |
| heart left ventricle | UBERON:0002084 | 89.13 | gold quality |
| transverse colon | UBERON:0001157 | 88.96 | gold quality |
| left adrenal gland | UBERON:0001234 | 88.95 | gold quality |
| prostate gland | UBERON:0002367 | 88.92 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 88.84 | gold quality |
| cortex of kidney | UBERON:0001225 | 88.80 | gold quality |
| body of pancreas | UBERON:0001150 | 88.78 | gold quality |
| metanephros cortex | UBERON:0010533 | 88.77 | gold quality |
| embryo | UBERON:0000922 | 88.55 | gold quality |
| ganglionic eminence | UBERON:0004023 | 88.55 | gold quality |
| cortical plate | UBERON:0005343 | 88.34 | gold quality |
| duodenum | UBERON:0002114 | 88.22 | gold quality |
| fundus of stomach | UBERON:0001160 | 88.09 | gold quality |
| kidney | UBERON:0002113 | 87.87 | gold quality |
| adrenal gland | UBERON:0002369 | 87.65 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 87.63 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.85 |
| E-MTAB-7303 | no | 155.77 |
| E-MTAB-6379 | no | 141.01 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
57 targeting LYSET, 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-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-576-5P | 99.84 | 70.46 | 2582 |
| HSA-MIR-4799-5P | 99.82 | 70.60 | 2663 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-2681-5P | 99.75 | 67.64 | 1655 |
| HSA-MIR-4446-5P | 99.72 | 69.19 | 2544 |
| HSA-MIR-1200 | 99.71 | 70.42 | 1838 |
| HSA-MIR-548AU-3P | 99.70 | 68.22 | 1373 |
| HSA-MIR-5093 | 99.67 | 69.26 | 2291 |
| HSA-MIR-378A-5P | 99.65 | 66.33 | 1311 |
| HSA-MIR-3679-3P | 99.64 | 69.88 | 1599 |
| HSA-MIR-3942-3P | 99.57 | 69.03 | 2854 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-17-3P | 99.55 | 66.77 | 1311 |
| HSA-MIR-12123 | 99.52 | 71.79 | 2990 |
| HSA-MIR-5584-5P | 99.49 | 68.22 | 2814 |
| HSA-MIR-548AV-3P | 99.43 | 68.50 | 1721 |
| HSA-MIR-513A-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-513C-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-6853-3P | 99.36 | 70.79 | 1558 |
| HSA-MIR-4427 | 99.34 | 70.33 | 1854 |
| HSA-MIR-1206 | 99.30 | 69.32 | 1016 |
Literature-anchored findings (GeneRIF, showing 4)
- Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature. (PMID:33252156)
- The human disease gene LYSET is essential for lysosomal enzyme transport and viral infection. (PMID:36074821)
- Lysosomal enzyme trafficking factor LYSET enables nutritional usage of extracellular proteins. (PMID:36074822)
- LYSET/TMEM251- a novel key component of the mannose 6-phosphate pathway. (PMID:36633450)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tmem251 | ENSDARG00000042341 |
| mus_musculus | Lyset | ENSMUSG00000046675 |
| rattus_norvegicus | Lyset | ENSRNOG00000008101 |
Protein
Protein identifiers
Lysosomal enzyme trafficking factor — Q8N6I4 (reviewed: Q8N6I4)
Alternative names: GNPTAB cleavage and activity factor, Transmembrane protein 251
All UniProt accessions (1): Q8N6I4
UniProt curated annotations — full annotation on UniProt →
Function. Required for mannose-6-phosphate-dependent trafficking of lysosomal enzymes. LYSET bridges GlcNAc-1-phosphate transferase (GNPTAB), to the membrane-bound transcription factor site-1 protease (MBTPS1), thus allowing proteolytic activation of the GNPTAB. GNPTAB is involved in the regulation of M6P-dependent Golgi-to-lysosome trafficking of lysosomal enzymes. LYSET is thus an essential factor for maturation and delivery of lysosomal hydrolases. (Microbial infection) Essential for infection by muliple viruses, including SARS-CoV-2, that utilize activated cathepsins for entry after M6P-dependent lysosomal transport.
Subunit / interactions. Interacts with GNPTAB; this interaction is important for proper localization of GNPTAB in Golgi stacks. Interacts with MBTPS1.
Subcellular location. Golgi apparatus membrane.
Disease relevance. Dysostosis multiplex, Ain-Naz type (DMAN) [MIM:619345] An autosomal recessive, severe skeletal disease characterized by features of dysostosis multiplex, severe short stature, coarse facies with broad nose and prominent lips, protruding abdomens, and progressive skeletal changes causing gradual mobility loss. Death in childhood or early adulthood may occur. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the LYSET family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N6I4-1 | 1 | yes |
| Q8N6I4-2 | 2 | |
| Q8N6I4-3 | 3 |
RefSeq proteins (2): NP_001092091, NP_056491 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR028024 | LYSET | Family |
Pfam: PF15190
UniProt features (11 total): mutagenesis site 3, transmembrane region 2, splice variant 2, sequence variant 2, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N6I4-F1 | 63.23 | 0.00 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 86 | rescues the lysosomal trafficking defect in lyset-deficient cells. |
| 136 | rescues the lysosomal trafficking defect in lyset-deficient cells. |
| 150 | rescues the lysosomal trafficking defect in lyset-deficient cells. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 179 (showing top):
BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_LYSOSOMAL_TRANSPORT, GOBP_VACUOLE_ORGANIZATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, GOBP_PROTEIN_TARGETING, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_VACUOLAR_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_PROTEIN_LOCALIZATION_TO_LYSOSOME, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_PROTEIN_LOCALIZATION_TO_VACUOLE, GOBP_REGULATION_OF_PROTEIN_STABILITY, SCHLOSSER_SERUM_RESPONSE_DN
GO Biological Process (7): protein targeting to lysosome (GO:0006622), lysosome organization (GO:0007040), lysosomal transport (GO:0007041), response to virus (GO:0009615), protein catabolic process (GO:0030163), regulation of protein stability (GO:0031647), regulation of vesicle-mediated transport (GO:0060627)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (4): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), Golgi cisterna (GO:0031985), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein targeting to vacuole | 1 |
| lysosomal transport | 1 |
| protein localization to lysosome | 1 |
| lytic vacuole organization | 1 |
| vacuolar transport | 1 |
| response to other organism | 1 |
| macromolecule catabolic process | 1 |
| protein metabolic process | 1 |
| regulation of biological quality | 1 |
| vesicle-mediated transport | 1 |
| regulation of cellular process | 1 |
| regulation of transport | 1 |
| binding | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| Golgi stack | 1 |
| Golgi apparatus subcompartment | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
266 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LYSET | PWWP2B | Q6NUJ5 | 607 |
| LYSET | TAF5L | O75529 | 521 |
| LYSET | KRTAP4-8 | Q9BYQ9 | 492 |
| LYSET | TMEM41B | Q5BJD5 | 474 |
| LYSET | ACP1 | P24666 | 473 |
| LYSET | ZMYM2 | Q9UBW7 | 471 |
| LYSET | KLHL42 | Q9P2K6 | 394 |
| LYSET | DALRD3 | Q5D0E6 | 380 |
| LYSET | WDR81 | Q562E7 | 376 |
| LYSET | NAGPA | Q9UK23 | 375 |
| LYSET | WDR91 | A4D1P6 | 375 |
| LYSET | YPEL1 | O60688 | 368 |
| LYSET | VPS37A | Q8NEZ2 | 365 |
| LYSET | BORCS8 | Q96FH0 | 365 |
| LYSET | SCAF4 | O95104 | 359 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TMED10 | PGRMC1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (7): TMEM251 (Negative Genetic), TMEM251 (Phenotypic Enhancement), TMEM251 (Affinity Capture-MS), TMEM251 (Affinity Capture-Western), GNPTAB (Affinity Capture-Western), GNPTG (Co-localization), GNPTAB (Co-localization)
ESM2 similar proteins: A0A7H0DNA7, A0A8I3NQW8, B2RWJ3, C4QVD6, C5DQY5, C7Z504, D1ZRK4, E9EM69, F1LXS7, F5HDD0, F8RT80, O36388, O48670, O94592, P0C655, P20987, P33835, P36707, Q04684, Q09366, Q09714, Q09952, Q09993, Q197D8, Q1KZ54, Q1L864, Q21642, Q28IL7, Q2H3I7, Q2M2T6, Q54U35, Q5M7C7, Q5M9B7, Q5XJX0, Q64919, Q6GNY6, Q6NVQ1, Q6Q7K0, Q6QA74, Q6ZWX0
Diamond homologs: F1LXS7, Q2HJ69, Q5HZT8, Q5TZA3, Q5ZLR7, Q66J17, Q6GLZ9, Q6QA74, Q8BH26, Q8N6I4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
30 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 2 |
| Uncertain significance | 24 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1120020 | NM_001098621.4(LYSET):c.115C>T (p.Arg39Trp) | Pathogenic |
| 1120021 | NM_001098621.4(LYSET):c.197dup (p.Tyr66Ter) | Likely pathogenic |
| 807354 | NM_001098621.4(LYSET):c.216dup (p.His73fs) | Likely pathogenic |
SpliceAI
384 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:93185029:G:GT | donor_gain | 0.9900 |
| 14:93185030:A:T | donor_gain | 0.9900 |
| 14:93186251:A:AG | acceptor_gain | 0.9900 |
| 14:93186255:TGAA:T | acceptor_loss | 0.9900 |
| 14:93186256:GAAG:G | acceptor_loss | 0.9900 |
| 14:93186258:A:AC | acceptor_loss | 0.9900 |
| 14:93186430:G:GT | donor_gain | 0.9900 |
| 14:93186453:A:T | donor_gain | 0.9900 |
| 14:93186457:C:G | donor_gain | 0.9900 |
| 14:93186762:G:GT | donor_gain | 0.9900 |
| 14:93185028:GGAAG:G | donor_gain | 0.9800 |
| 14:93185030:AAGGT:A | donor_loss | 0.9800 |
| 14:93185031:AGG:A | donor_loss | 0.9800 |
| 14:93185032:GGTGA:G | donor_loss | 0.9800 |
| 14:93185033:GT:G | donor_loss | 0.9800 |
| 14:93185034:T:A | donor_loss | 0.9800 |
| 14:93185467:G:GT | donor_gain | 0.9800 |
| 14:93185486:G:GG | donor_gain | 0.9800 |
| 14:93186255:T:TA | acceptor_gain | 0.9800 |
| 14:93186258:A:AG | acceptor_gain | 0.9800 |
| 14:93186259:G:GG | acceptor_gain | 0.9800 |
| 14:93186431:A:T | donor_gain | 0.9800 |
| 14:93186252:A:G | acceptor_gain | 0.9700 |
| 14:93186258:AG:A | acceptor_gain | 0.9700 |
| 14:93186259:GG:G | acceptor_gain | 0.9700 |
| 14:93185033:GTGAG:G | donor_loss | 0.9600 |
| 14:93185482:CATT:C | donor_gain | 0.9600 |
| 14:93186251:AATTT:A | acceptor_gain | 0.9600 |
| 14:93185433:C:G | donor_gain | 0.9500 |
| 14:93185484:TT:T | donor_gain | 0.9500 |
AlphaMissense
1095 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000116037 (14:93185023 G>C), RS1001228668 (14:93187353 G>A), RS1001434329 (14:93183483 A>G), RS1001484907 (14:93183908 C>T), RS1003021095 (14:93187667 T>A), RS1004292159 (14:93187544 A>G), RS1004788104 (14:93184405 C>T), RS1005153871 (14:93187741 C>T), RS1005566874 (14:93186082 G>C), RS1006076180 (14:93185743 T>G), RS1007087425 (14:93185077 C>T), RS1007491973 (14:93186304 G>A), RS1008486268 (14:93184468 C>G), RS1008582673 (14:93184721 G>A), RS1009207508 (14:93185342 C>T)
Disease associations
OMIM: gene MIM:619332 | disease phenotypes: MIM:619345
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| dysostosis multiplex, Ain-Naz type | Strong | Autosomal recessive |
Mondo (2): dysostosis multiplex, Ain-Naz type (MONDO:0859156), 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
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004823_4 | Cognitive function | 3.000000e-06 |
| GCST005951_7 | Body mass index | 4.000000e-08 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008354 | cognitive function measurement |
| EFO:0004340 | body mass index |
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
17 total (human), top 17 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| dicrotophos | decreases expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| trichostatin A | affects expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| abrine | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Acetaminophen | increases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Progesterone | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | increases expression, decreases methylation | 1 |
| Cyclosporine | increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | affects expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E2M4 | HAP1 TMEM251 (-) | Cancer cell line | Male |
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
- Associated diseases: dysostosis multiplex, Ain-Naz type
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): dysostosis multiplex, Ain-Naz type