MAN1B1

Summary

MAN1B1 (mannosidase alpha class 1B member 1, HGNC:6823) is a protein-coding gene on chromosome 9q34.3, encoding Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase (Q9UKM7). Involved in glycoprotein quality control targeting of misfolded glycoproteins for degradation.

This gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N-glycan biosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc to Man8GlcNAc isomer B. It is required for N-glycan trimming to Man5-6GlcNAc2 in the endoplasmic-reticulum-associated degradation pathway. Mutations in this gene cause autosomal-recessive intellectual disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11.

Source: NCBI Gene 11253 — RefSeq curated summary.

At a glance

• Gene–disease (curated): MAN1B1-congenital disorder of glycosylation (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 2
• Clinical variants (ClinVar): 592 total — 26 pathogenic, 18 likely-pathogenic
• Phenotypes (HPO): 68
• Druggable target: yes
• MANE Select transcript: NM_016219

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6823
Approved symbol	MAN1B1
Name	mannosidase alpha class 1B member 1
Location	9q34.3
Locus type	gene with protein product
Status	Approved
Aliases	MANA-ER, MRT15, ERManI, ERMan1
Ensembl gene	ENSG00000177239
Ensembl biotype	protein_coding
OMIM	604346
Entrez	11253

Gene structure

Transcript identifiers

Ensembl transcripts: 52 — 24 protein_coding, 14 retained_intron, 10 nonsense_mediated_decay, 4 protein_coding_CDS_not_defined

ENST00000371587, ENST00000371589, ENST00000474902, ENST00000475449, ENST00000480100, ENST00000535028, ENST00000535144, ENST00000536268, ENST00000536349, ENST00000540346, ENST00000540391, ENST00000542372, ENST00000544448, ENST00000545096, ENST00000545539, ENST00000550113, ENST00000682117, ENST00000682210, ENST00000682212, ENST00000682425, ENST00000682502, ENST00000682881, ENST00000682964, ENST00000683113, ENST00000683135, ENST00000683324, ENST00000683355, ENST00000683475, ENST00000683529, ENST00000683979, ENST00000683987, ENST00000684138, ENST00000684144, ENST00000684229, ENST00000684272, ENST00000684297, ENST00000684336, ENST00000684366, ENST00000684645, ENST00000684759, ENST00000877684, ENST00000877685, ENST00000877686, ENST00000877687, ENST00000916526, ENST00000916527, ENST00000916528, ENST00000916529, ENST00000916530, ENST00000916531, ENST00000946890, ENST00000946891

RefSeq mRNA: 1 — MANE Select: NM_016219 NM_016219

CCDS: CCDS7029

Canonical transcript exons

ENST00000371589 — 13 exons

Exon	Start	End
ENSE00001810926	137108388	137109183
ENSE00002253874	137086985	137087218
ENSE00003471906	137088869	137089005
ENSE00003480583	137101005	137101153
ENSE00003488255	137106689	137106809
ENSE00003490249	137099696	137099881
ENSE00003505599	137097828	137097937
ENSE00003545399	137088075	137088183
ENSE00003584218	137107531	137107662
ENSE00003619941	137107250	137107447
ENSE00003632676	137096237	137096391
ENSE00003723153	137106125	137106315
ENSE00003738948	137101484	137101672

Expression profiles

Bgee: expression breadth ubiquitous, 268 present calls, max score 96.48.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 51.4476 / max 323.2692, expressed in 1823 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
99645	42.2437	1815
99647	7.1304	1719
99648	1.3631	964
99646	0.7104	476

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	96.48	gold quality
right uterine tube	UBERON:0001302	94.74	gold quality
skin of leg	UBERON:0001511	94.51	gold quality
adenohypophysis	UBERON:0002196	94.46	gold quality
lower esophagus mucosa	UBERON:0035834	94.41	gold quality
apex of heart	UBERON:0002098	94.31	gold quality
skin of abdomen	UBERON:0001416	94.19	gold quality
right hemisphere of cerebellum	UBERON:0014890	93.98	gold quality
cerebellar hemisphere	UBERON:0002245	93.82	gold quality
pituitary gland	UBERON:0000007	93.79	gold quality
cerebellar cortex	UBERON:0002129	93.70	gold quality
minor salivary gland	UBERON:0001830	93.55	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	93.39	gold quality
right lobe of thyroid gland	UBERON:0001119	93.17	gold quality
right lobe of liver	UBERON:0001114	93.13	gold quality
metanephros cortex	UBERON:0010533	93.05	gold quality
tibial nerve	UBERON:0001323	92.95	gold quality
left testis	UBERON:0004533	92.92	gold quality
left ovary	UBERON:0002119	92.75	gold quality
right adrenal gland	UBERON:0001233	92.66	gold quality
right ovary	UBERON:0002118	92.65	gold quality
left lobe of thyroid gland	UBERON:0001120	92.58	gold quality
right testis	UBERON:0004534	92.58	gold quality
granulocyte	CL:0000094	92.53	gold quality
cerebellum	UBERON:0002037	92.46	gold quality
left adrenal gland cortex	UBERON:0035825	92.44	gold quality
mucosa of transverse colon	UBERON:0004991	92.42	gold quality
right adrenal gland cortex	UBERON:0035827	92.42	gold quality
right atrium auricular region	UBERON:0006631	92.39	gold quality
right frontal lobe	UBERON:0002810	92.38	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

19 targeting MAN1B1, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-670-5P	99.67	69.94	1565
HSA-MIR-516B-5P	99.56	66.33	1495
HSA-MIR-4649-3P	99.56	66.90	1783
HSA-MIR-6740-3P	99.48	68.49	1392
HSA-MIR-125A-5P	99.36	70.59	1640
HSA-MIR-125B-5P	99.36	70.36	1662
HSA-MIR-6509-3P	98.32	67.33	1343
HSA-MIR-6810-5P	98.29	66.21	975
HSA-MIR-558	97.50	67.16	977
HSA-MIR-6773-5P	97.04	64.30	595
HSA-MIR-6724-5P	96.41	63.11	507
HSA-MIR-187-3P	81.56	59.38	111

Literature-anchored findings (GeneRIF, showing 25)

• ER processing alpha1,2-mannosidase (ER ManI) has a role in ER-associated degradation of misfolded proteins (PMID:12736254)
• Modification by endoplasmic reticulum mannosidase I (ERManI) contributes to the preferential selection of the misfolded AAT monomer for proteasomal degradation. (PMID:12815101)
• glycoside bond cleavage proceeds through a least motion conformational twist of a properly predisposed substrate (PMID:15713668)
• Increased activity of alpha-mannosidase in the peritoneal fluid is associated with gynecologic cancers and pelvic inflammatory disease (PMID:15785934)
• overexpression of Golgi alpha1,2-mannosidase IA, IB, and IC also accelerates ERAD of terminally misfolded human alpha1-antitrypsin variant null (Hong Kong) (NHK), and mannose trimming from the N-glycans on NHK in 293 cells (PMID:17727818)
• ERManI is required for trimming to Man(5-6)GlcNAc(2) and for endoplasmic reticulum associated degradation in cells in vivo. (PMID:18003979)
• the true catalytic proton donor is Asp463 in the human endoplasmic reticulum alpha-(1–>2)-mannosidase I (PMID:18619586)
• the identified single-nucleotide polymorphism can accelerate the onset of the end-stage liver disease associated with alpha1-antitrypsin deficiency and underscore the contribution of biosynthetic quality control as a modifier of genetic disease (PMID:19444872)
• Golgi localization of ERManI defines spatial separation of the mammalian glycoprotein quality control system (PMID:21697506)
• A homozygous nonsense mutation in MAN1B1 segregated with nonsyndromic autosomal-recessive intellectual disability and additional dysmorphic features. (PMID:21763484)
• ERManI and gamma-COP contribute to a golgi-based quality control module that facilitates the retrieval of captured ERAD substrates back to the endoplasmic reticulum. (PMID:23427261)
• A novel post-transcriptional regulatory mechanism for ERManI via miR-125b and this molecule contributes to the regulation of carcinogenesis in hepatocellular carcinoma. (PMID:23940818)
• we linked mutations in MAN1B1 to a Golgi glycosylation disorder. Additionally, our results support the recent findings on MAN1B1 localization (PMID:24348268)
• The properties of ERMAN1 enable rapid selection of endoplasmic reticulum-associated degradation substrates in the endoplasmic reticulum.ERMAN1 digests mono-, di- and tri-glucosylated N-glycans. (PMID:24519966)
• MAN1B1 deficiency appeared to be a frequent cause in our cohort of patients with unsolved congenital disorder of glycosylation type II. (PMID:24566669)
• Results suggest that endoplasmic reticulum mannosidase I (ERManI) is turned over by an active autophagic process. (PMID:25411339)
• Data show that HIV-1 env protein interacts with alpha-mannosidases ERManI (MAN1B1) and initiates endoplasmic reticulum (ER)-associated protein degradation (ERAD) pathway degradation process. (PMID:26205822)
• MAN1B1 defective congenital disorder of glycosylation is reviewed. (PMID:26577042)
• in the bound substrate complex, hydrophobic stacking interactions between Trp residues and the glycan core anchor the base of the glycan structure to the enzyme cleft (PMID:27856750)
• The two genetic associations with severe liver disease that had been suspected previously (one SNP for SERPINA1 and another for MAN1B1) were not confirmed in our cohort. For MAN1B1, four major haplotypes were identified but the prevalence of PHT did not significantly differ between them. (PMID:28887821)
• Novel MAN1B1 variants were identified in patients with facial dysmorphism, hypotonia, truncal obesity and in some, behavioural problems. (PMID:29908352)
• Results show that MAN1B1 expression was higher in bladder cancer (BC) tissues than those in normal tissues. Its overexpression was associated with poor prognosis. Furthermore, MAN1B1 seems to act as an oncogene in BC, which improved the likelihood of MAN1B1 taking on a promising prognostic biomarker. (PMID:30218751)
• The cytoplasmic tail of human mannosidase Man1b1 contributes to catalysis-independent quality control of misfolded alpha1-antitrypsin. (PMID:32958677)
• MAN1B1-CDG: novel patients and novel variant. (PMID:34162022)
• Hepatitis B virus X protein promotes MAN1B1 expression by enhancing stability of GRP78 via TRIM25 to facilitate hepatocarcinogenesis. (PMID:36635499)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	man1b1a	ENSDARG00000073792
danio_rerio	man1b1b	ENSDARG00000076592
mus_musculus	Man1b1	ENSMUSG00000036646
rattus_norvegicus	Man1b1	ENSRNOG00000012559
drosophila_melanogaster	alpha-Man-Ib	FBGN0039634
caenorhabditis_elegans		WBGENE00013881

Paralogs (6): EDEM2 (ENSG00000088298), MAN1A1 (ENSG00000111885), EDEM3 (ENSG00000116406), MAN1C1 (ENSG00000117643), EDEM1 (ENSG00000134109), MAN1A2 (ENSG00000198162)

Protein

Protein identifiers

Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase — Q9UKM7 (reviewed: Q9UKM7)

Alternative names: ER alpha-1,2-mannosidase, ER mannosidase 1, Man9GlcNAc2-specific-processing alpha-mannosidase, Mannosidase alpha class 1B member 1

All UniProt accessions (18): Q9UKM7, A0A087X064, A0A804HHU1, A0A804HIP1, A0A804HJ23, A0A804HJ66, A0A804HJW0, A0A804HK01, A0A804HK28, A0A804HK86, A0A804HKS1, A0A804HL61, A0A804HL65, H0YFU3, H0YG20, H0YGQ1, H0YGV7, H0YI64

UniProt curated annotations — full annotation on UniProt →

Function. Involved in glycoprotein quality control targeting of misfolded glycoproteins for degradation. It primarily trims a single alpha-1,2-linked mannose residue from Man(9)GlcNAc(2) to produce Man(8)GlcNAc(2), but at high enzyme concentrations, as found in the ER quality control compartment (ERQC), it further trims the carbohydrates to Man(5-6)GlcNAc(2).

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Widely expressed.

Disease relevance. Rafiq syndrome (RAFQS) [MIM:614202] An autosomal recessive disorder characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia. The facial dysmorphism comprises prominent eyebrows with lateral thinning, downward-slanting palpebral fissures, bulbous tip of the nose, large ears, and a thin upper lip. Behavioral problems, including overeating, verbal and physical aggression, have been reported in some cases. Serum transferrin isoelectric focusing shows a type 2 pattern. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Inhibited by both 1-deoxymannojirimycin (dMNJ) and kifunensine.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the glycosyl hydrolase 47 family.

RefSeq proteins (1): NP_057303* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001382	Glyco_hydro_47	Family
IPR012341	6hp_glycosidase-like_sf	Homologous_superfamily
IPR036026	Seven-hairpin_glycosidases	Homologous_superfamily
IPR050749	Glycosyl_Hydrolase_47	Family

Pfam: PF01532

Enzyme classification (BRENDA):

• EC 3.2.1.113 — mannosyl-oligosaccharide 1,2-alpha-mannosidase (BRENDA: 27 organisms, 103 substrates, 103 inhibitors, 15 Km, 4 kcat entries)
• EC 3.2.1.209 — endoplasmic reticulum Man9GlcNAc2 1,2-alpha-mannosidase (BRENDA: 10 organisms, 65 substrates, 48 inhibitors, 22 Km, 15 kcat entries)

Substrate kinetics (BRENDA)

14 substrates with measured Km, best-characterized 14. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ALPHA-D-MAN-(1->2)-ALPHA-D-MAN-(1->2)-ALPHA-D-MA	0.015–0.51	15
MANALPHA(1,2)MAN-O-ME	0.296–0.78	4
4-METHYLUMBELLIFERYL-ALPHA-D-MANNOPYRANOSIDE	0.07–0.11	3
4-METHYLUMBELLIFERYL ALPHA-D-MANNOPYRANOSIDE	0.07–0.09	2
(MAN)9GLCNAC	0.3	2
ALPHA-1,2-MANNOBIOSE	0.456	1
MAN6GLCNAC	0.26	1
MAN8GLCNAC	0.1	1
MAN9GLCNAC2-[THYROGLOBULIN]	0.2	1
MANALPHA(1-2)MANALPHA(1-3)MANBETA(1-4)GLCNAC	1.25	1
MANNOBIOSE	0.67	1
P-NITROPHENYL-ALPHA-D-MANNOSIDE	0.087	1
4-METHYLUMBELLIFERYL ALPHA-D-MANNOPYRANOSIDE	0.04	1
MAN9GLCNAC	0.2	1

Catalyzed reactions (Rhea), 2 shown:

• N(4)-(alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] (N-glucan mannose isomer 9A1,2,3B1,2,3) + 4 H2O = N(4)-(alpha-D-Man-(1->3)-[alpha-D-Man-(1->3)-[alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] (N-glucan mannose isomer 5A1,2) + 4 beta-D-mannose (RHEA:56008)
• N(4)-(alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] (N-glucan mannose isomer 8A1,2,3B1,3) + 3 H2O = N(4)-(alpha-D-Man-(1->3)-[alpha-D-Man-(1->3)-[alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] (N-glucan mannose isomer 5A1,2) + 3 beta-D-mannose (RHEA:56028)

UniProt features (67 total): strand 20, helix 19, turn 7, mutagenesis site 4, active site 4, sequence variant 3, topological domain 2, sequence conflict 2, chain 1, binding site 1, disulfide bond 1, transmembrane region 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
1X9D	X-RAY DIFFRACTION	1.41
5KIJ	X-RAY DIFFRACTION	1.65
5KK7	X-RAY DIFFRACTION	1.73
1FO3	X-RAY DIFFRACTION	1.75
1FMI	X-RAY DIFFRACTION	1.9
1FO2	X-RAY DIFFRACTION	2.38

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UKM7-F1	81.36	0.68

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (4): 330 (proton donor); 463; 570 (proton donor); 599

Ligand- & substrate-binding residues (1): 688

Disulfide bonds (1): 527–556

Mutagenesis-validated functional residues (4):

Position	Phenotype
330	about 44-fold reduction in k(cat), slight reduction in k(m), about 100-fold increase in binding affinity for man(9)glcna
463	some reduction in k(cat) but no change in k(m), abolishes almost all binding to man(9)glcnac(2) but reduced binding to t
524	about 4-fold reduction in k(cat).
599	very significant reduction in k(cat), 4-fold weaker binding affinity for man(9)glcnac(2) but about 1000-fold reduction i

Function

Pathways and Gene Ontology

Reactome pathways

18 pathways

ID	Pathway
R-HSA-4793950	Defective MAN1B1 causes MRT15
R-HSA-901032	ER Quality Control Compartment (ERQC)
R-HSA-9694548	Maturation of spike protein
R-HSA-1643685	Disease
R-HSA-3781860	Diseases associated with N-glycosylation of proteins
R-HSA-3781865	Diseases of glycosylation
R-HSA-392499	Metabolism of proteins
R-HSA-446203	Asparagine N-linked glycosylation
R-HSA-532668	N-glycan trimming in the ER and Calnexin/Calreticulin cycle
R-HSA-5663205	Infectious disease
R-HSA-5668914	Diseases of metabolism
R-HSA-597592	Post-translational protein modification
R-HSA-901042	Calnexin/calreticulin cycle
R-HSA-9679506	SARS-CoV Infections
R-HSA-9694516	SARS-CoV-2 Infection
R-HSA-9694635	Translation of Structural Proteins
R-HSA-9772573	Late SARS-CoV-2 Infection Events
R-HSA-9824446	Viral Infection Pathways

MSigDB gene sets: 264 (showing top): GOBP_OLIGOSACCHARIDE_METABOLIC_PROCESS, GOBP_N_GLYCAN_PROCESSING, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, KEGG_N_GLYCAN_BIOSYNTHESIS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, KESHELAVA_MULTIPLE_DRUG_RESISTANCE, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_PROTEIN_DEGLYCOSYLATION, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS

GO Biological Process (10): N-glycan processing (GO:0006491), oligosaccharide metabolic process (GO:0009311), viral protein processing (GO:0019082), ERAD pathway (GO:0036503), protein alpha-1,2-demannosylation (GO:0036508), endoplasmic reticulum mannose trimming (GO:1904380), carbohydrate metabolic process (GO:0005975), obsolete mannoprotein catabolic process (GO:0006058), obsolete protein glycosylation (GO:0006486), glycoprotein metabolic process (GO:0009100)

GO Molecular Function (6): mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571), calcium ion binding (GO:0005509), alpha-mannosidase activity (GO:0004559), hydrolase activity (GO:0016787), hydrolase activity, acting on glycosyl bonds (GO:0016798), metal ion binding (GO:0046872)

GO Cellular Component (7): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410), endoplasmic reticulum quality control compartment (GO:0044322), extracellular vesicle (GO:1903561)

Reactome top-level categories

Rollup of top-15 pathways:

Category	Pathways
Disease	2
Diseases associated with N-glycosylation of proteins	1
Calnexin/calreticulin cycle	1
Translation of Structural Proteins	1
Diseases of glycosylation	1
Diseases of metabolism	1
Post-translational protein modification	1
Asparagine N-linked glycosylation	1
Metabolism of proteins	1
N-glycan trimming in the ER and Calnexin/Calreticulin cycle	1
Viral Infection Pathways	1
SARS-CoV Infections	1
Late SARS-CoV-2 Infection Events	1
SARS-CoV-2 Infection	1
Infectious disease	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	3
endomembrane system	2
intracellular membrane-bounded organelle	2
cellular anatomical structure	2
protein N-linked glycosylation	1
glycoprotein biosynthetic process	1
carbohydrate metabolic process	1
viral process	1
viral gene expression	1
proteasomal protein catabolic process	1
response to endoplasmic reticulum stress	1
response to chemical	1
mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	1
protein demannosylation	1
protein alpha-1,2-demannosylation	1
endoplasmic reticulum quality control compartment	1
primary metabolic process	1
protein metabolic process	1
carbohydrate derivative metabolic process	1
mannosyl-oligosaccharide mannosidase activity	1
metal ion binding	1
mannosidase activity	1
catalytic activity	1
hydrolase activity	1
cation binding	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
intracellular vesicle	1
endoplasmic reticulum	1
extracellular region	1
vesicle	1
extracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1494 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MAN1B1	MAN2C1	Q9NTJ4	956
MAN1B1	MANEA	Q5SRI9	935
MAN1B1	MAN2A1	Q16706	930
MAN1B1	OS9	Q13438	892
MAN1B1	ERLEC1	Q96DZ1	876
MAN1B1	CANX	P27824	798
MAN1B1	MOGS	Q13724	770
MAN1B1	SEL1L	Q9UBV2	768
MAN1B1	UGGT1	Q9NYU2	729
MAN1B1	DNAJC10	Q8IXB1	716
MAN1B1	SERPINA1	P01009	692
MAN1B1	CALR	P27797	690
MAN1B1	ALG3	Q92685	649
MAN1B1	ALG2	Q9H553	642
MAN1B1	MAN2A2	P49641	626

IntAct

67 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
RANBP6	SLC27A2	psi-mi:“MI:0914”(association)	0.640
GNAI3	RGS12	psi-mi:“MI:0914”(association)	0.640
CCNDBP1	JUN	psi-mi:“MI:0914”(association)	0.530
TNFSF8	LGALS8	psi-mi:“MI:0914”(association)	0.530
SPCS3	ENTPD6	psi-mi:“MI:0914”(association)	0.530
DNM2	MAN1B1	psi-mi:“MI:0915”(physical association)	0.370
Uso1	SLC30A6	psi-mi:“MI:0914”(association)	0.350
TPTE	ILVBL	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
CUL5	DDX3X	psi-mi:“MI:0914”(association)	0.350
CD79B	GOLIM4	psi-mi:“MI:0914”(association)	0.350
	TMEM223	psi-mi:“MI:0914”(association)	0.350
POMK	ESYT2	psi-mi:“MI:0914”(association)	0.350
DYRK1A	TEX13D	psi-mi:“MI:0914”(association)	0.350
HLA-DQB1	ESYT2	psi-mi:“MI:0914”(association)	0.350
IL13	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
FGF14	ZSWIM8	psi-mi:“MI:0914”(association)	0.350
KCNE3	PIK3R2	psi-mi:“MI:0914”(association)	0.350
GPR182	SLC12A8	psi-mi:“MI:0914”(association)	0.350
PCDHB3	ESYT2	psi-mi:“MI:0914”(association)	0.350
GP9	ESYT2	psi-mi:“MI:0914”(association)	0.350
PIGH	ILVBL	psi-mi:“MI:0914”(association)	0.350

BioGRID (121): MAN1B1 (Affinity Capture-MS), MAN1B1 (Affinity Capture-MS), MAN1B1 (Affinity Capture-MS), MAN1B1 (Affinity Capture-MS), MAN1B1 (Affinity Capture-MS), MAN1B1 (Affinity Capture-MS), MAN1B1 (Affinity Capture-RNA), MAN1B1 (Affinity Capture-MS), MAN1B1 (Affinity Capture-MS), MAN1B1 (Affinity Capture-MS), MAN1B1 (Affinity Capture-MS), MOGS (Negative Genetic), RAB5C (Negative Genetic), TBL1XR1 (Negative Genetic), MAN1B1 (Negative Genetic)

ESM2 similar proteins: A2AJ15, B2GUY0, O02773, O18498, O60476, P32906, P33908, P39098, P45700, P45701, P53624, Q08463, Q10471, Q18788, Q1L8D2, Q2HXL6, Q49A17, Q5EA41, Q5GF25, Q5RFJ6, Q6GQB9, Q6NXH2, Q6P9S7, Q6PB93, Q6WV16, Q80VA0, Q86SF2, Q86SR1, Q8BJT9, Q8H116, Q8J0Q0, Q8K1B9, Q8N428, Q925R7, Q925U4, Q92611, Q93Y37, Q9BV94, Q9BZQ6, Q9C512

Diamond homologs: A1CP08, A1D1W1, A2AJ15, A2QAS2, B0XMT4, B2GUY0, B8N417, D4AV26, E9CXX8, O02773, O18498, O60476, P31723, P33908, P39098, P45700, P45701, P53624, Q0D076, Q12563, Q18788, Q2ULB2, Q4WRZ5, Q5BF93, Q8H116, Q8J0Q0, Q93Y37, Q9C512, Q9NR34, Q9UKM7, O94726, P32906, Q2HXL6, Q6GQB9, Q8BJT9, Q925U4, Q92611, Q9BV94, Q9BZQ6, Q9FG93

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	26
Likely pathogenic	18
Uncertain significance	238
Likely benign	183
Benign	47

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1030542	NM_016219.5(MAN1B1):c.1444C>T (p.Gln482Ter)	Pathogenic
1076605	NM_016219.5(MAN1B1):c.242T>A (p.Leu81Ter)	Pathogenic
1254598	NM_016219.5(MAN1B1):c.484C>T (p.Gln162Ter)	Pathogenic
1458149	NC_000009.11:g.(?139981452)(139983477_?)del	Pathogenic
2012254	NM_016219.5(MAN1B1):c.772_775del (p.Leu258fs)	Pathogenic
203378	NM_016219.5(MAN1B1):c.1276_1277del (p.Gln426fs)	Pathogenic
2087749	NM_016219.5(MAN1B1):c.1236_1237del (p.Gly413_Asp414insTer)	Pathogenic
2115404	NM_016219.5(MAN1B1):c.1228del (p.Arg410fs)	Pathogenic
2579642	NM_016219.5(MAN1B1):c.624G>A (p.Trp208Ter)	Pathogenic
2791167	NM_016219.5(MAN1B1):c.1241del (p.Asp414fs)	Pathogenic
3014905	NM_016219.5(MAN1B1):c.1397_1398del (p.Tyr465_Tyr466insTer)	Pathogenic
30414	NM_016219.5(MAN1B1):c.1418G>A (p.Trp473Ter)	Pathogenic
3245243	NC_000009.11:g.(?139981452)(140003043_?)del	Pathogenic
3363104	NM_016219.5(MAN1B1):c.2065G>T (p.Glu689Ter)	Pathogenic
3701326	NM_016219.5(MAN1B1):c.1731C>G (p.Tyr577Ter)	Pathogenic
3716972	NM_016219.5(MAN1B1):c.1177_1178dup (p.Ser393fs)	Pathogenic
3899468	NM_016219.5(MAN1B1):c.297_301del (p.Phe100fs)	Pathogenic
4703323	NM_016219.5(MAN1B1):c.1216del (p.Arg406fs)	Pathogenic
4747916	NM_016219.5(MAN1B1):c.1014dup (p.Leu339fs)	Pathogenic
4772561	NM_016219.5(MAN1B1):c.1240dup (p.Asp414fs)	Pathogenic
916080	NM_016219.5(MAN1B1):c.244C>T (p.Gln82Ter)	Pathogenic
983290	NM_016219.5(MAN1B1):c.1225T>C (p.Ser409Pro)	Pathogenic
983293	NM_016219.5(MAN1B1):c.1445+2_1445+5del	Pathogenic
983295	NM_016219.5(MAN1B1):c.621-2A>G	Pathogenic
983297	NM_016219.5(MAN1B1):c.761_764del (p.Ile254fs)	Pathogenic
983298	NM_016219.5(MAN1B1):c.1311del (p.Leu438fs)	Pathogenic
1678867	NM_016219.5(MAN1B1):c.1736delinsCG (p.Gln579fs)	Likely pathogenic
1805568	NM_016219.5(MAN1B1):c.917-2_921del	Likely pathogenic
1805593	NM_016219.5(MAN1B1):c.1378_1394delinsAG (p.Ala460_Tyr465delinsSer)	Likely pathogenic
211429	NM_016219.5(MAN1B1):c.530_542del (p.Leu177fs)	Likely pathogenic

SpliceAI

2618 predictions. Top by Δscore:

Variant	Effect	Δscore
9:137088073:A:AG	acceptor_gain	1.0000
9:137088074:G:GG	acceptor_gain	1.0000
9:137096235:A:AG	acceptor_gain	1.0000
9:137096236:G:GG	acceptor_gain	1.0000
9:137096236:GAA:G	acceptor_gain	1.0000
9:137097823:C:CA	acceptor_gain	1.0000
9:137097826:A:AG	acceptor_gain	1.0000
9:137097826:A:T	acceptor_loss	1.0000
9:137097826:AGCT:A	acceptor_gain	1.0000
9:137097827:G:GA	acceptor_loss	1.0000
9:137097827:G:GG	acceptor_gain	1.0000
9:137097827:GCT:G	acceptor_gain	1.0000
9:137097827:GCTG:G	acceptor_gain	1.0000
9:137099810:G:GG	donor_gain	1.0000
9:137099878:A:T	donor_gain	1.0000
9:137101003:A:AG	acceptor_gain	1.0000
9:137101003:AG:A	acceptor_loss	1.0000
9:137101004:G:GG	acceptor_gain	1.0000
9:137101148:A:T	donor_gain	1.0000
9:137101149:AAGCT:A	donor_gain	1.0000
9:137101150:AGCT:A	donor_gain	1.0000
9:137101151:GCT:G	donor_gain	1.0000
9:137101151:GCTG:G	donor_gain	1.0000
9:137101152:CT:C	donor_gain	1.0000
9:137101154:G:GG	donor_gain	1.0000
9:137101481:CAG:C	acceptor_loss	1.0000
9:137101656:GGGA:G	donor_gain	1.0000
9:137101668:TTCAG:T	donor_loss	1.0000
9:137101669:TCAG:T	donor_loss	1.0000
9:137101670:CAGGT:C	donor_loss	1.0000

AlphaMissense

4579 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:137101616:A:C	S400R	0.999
9:137101618:C:A	S400R	0.999
9:137101618:C:G	S400R	0.999
9:137106283:G:C	K471N	0.999
9:137106283:G:T	K471N	0.999
9:137107573:A:C	S603R	0.999
9:137107575:C:A	S603R	0.999
9:137107575:C:G	S603R	0.999
9:137107257:T:C	L525P	0.998
9:137107262:T:C	C527R	0.998
9:137107264:C:G	C527W	0.998
9:137107351:T:G	C556W	0.998
9:137108463:A:C	S658R	0.998
9:137108465:C:A	S658R	0.998
9:137108465:C:G	S658R	0.998
9:137108466:T:C	F659L	0.998
9:137108468:C:A	F659L	0.998
9:137108468:C:G	F659L	0.998
9:137108552:C:A	N687K	0.998
9:137108552:C:G	N687K	0.998
9:137101073:T:C	F329L	0.997
9:137101075:T:A	F329L	0.997
9:137101075:T:G	F329L	0.997
9:137101078:G:C	E330D	0.997
9:137101078:G:T	E330D	0.997
9:137106711:G:C	A490P	0.997
9:137107250:G:C	D523H	0.997
9:137107257:T:A	L525Q	0.997
9:137107263:G:A	C527Y	0.997
9:137107265:T:C	F528L	0.997

dbSNP variants (sampled 300 via entrez): RS1000095002 (9:137102162 C>T), RS1000521021 (9:137085334 C>A), RS1000626452 (9:137090296 G>A), RS1000760980 (9:137095358 C>T), RS1000892950 (9:137098321 C>T), RS1000987164 (9:137103217 G>A,C,T), RS1001067035 (9:137104074 C>A,G,T), RS1001103399 (9:137103545 C>A,T), RS1001323491 (9:137099037 C>T), RS1001404596 (9:137087914 T>C), RS1001424835 (9:137093161 C>T), RS1001519048 (9:137093006 A>G), RS1001663442 (9:137097576 C>A,T), RS1001727790 (9:137094971 T>A), RS1001762238 (9:137101398 A>G)

Disease associations

OMIM: gene MIM:604346 | disease phenotypes: MIM:614202

GenCC curated gene-disease

Disease	Classification	Inheritance
Rafiq syndrome	Definitive	Autosomal recessive
MAN1B1-congenital disorder of glycosylation	Definitive	Autosomal recessive
autosomal recessive non-syndromic intellectual disability	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
MAN1B1-congenital disorder of glycosylation	Definitive	AR

Mondo (4): Rafiq syndrome (MONDO:0013624), MAN1B1-congenital disorder of glycosylation (MONDO:0018349), intellectual disability (MONDO:0001071), autosomal recessive non-syndromic intellectual disability (MONDO:0019502)

Orphanet (3): Autosomal recessive non-syndromic intellectual disability (Orphanet:88616), MAN1B1-CDG (Orphanet:397941), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

68 total (30 of 68 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000219	Thin upper lip vermilion
HP:0000256	Macrocephaly
HP:0000268	Dolichocephaly
HP:0000272	Malar flattening
HP:0000276	Long face
HP:0000286	Epicanthus
HP:0000307	Pointed chin
HP:0000316	Hypertelorism
HP:0000319	Smooth philtrum
HP:0000322	Short philtrum
HP:0000331	Short chin
HP:0000369	Low-set ears
HP:0000400	Macrotia
HP:0000414	Bulbous nose
HP:0000431	Wide nasal bridge
HP:0000445	Wide nose
HP:0000448	Prominent nose
HP:0000470	Short neck
HP:0000486	Strabismus
HP:0000494	Downslanted palpebral fissures
HP:0000527	Long eyelashes
HP:0000540	Hypermetropia
HP:0000708	Atypical behavior
HP:0000717	Autism
HP:0000718	Aggressive behavior
HP:0000729	Autistic behavior
HP:0000768	Pectus carinatum
HP:0000973	Cutis laxa
HP:0001249	Intellectual disability

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST006633_21	Initial alcohol sensitivity	5.000000e-06
GCST90013538_2	Coronary artery aneurysm in Kawasaki disease	5.000000e-07

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: yes

ChEMBL targets (1): CHEMBL2308 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs3750518	MAN1B1		0.00	0

ChEMBL bioactivities

12 potent at pChembl≥5 of 24 total, top 12 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.80	Ki	160	nM	CHEMBL2206824
6.64	Ki	230	nM	CHEMBL2206818
6.51	Ki	310	nM	CHEMBL2206823
6.51	Ki	310	nM	CHEMBL2206822
6.36	Ki	440	nM	CHEMBL2206821
6.12	Ki	760	nM	CHEMBL2206819
6.10	Ki	790	nM	CHEMBL188227
6.04	Ki	910	nM	CHEMBL2206820
5.90	Ki	1260	nM	IMINORIBITOL
5.80	Ki	1590	nM	CHEMBL2206825
5.58	Ki	2620	nM	CHEMBL361899
5.49	Ki	3240	nM	CHEMBL2207396

PubChem BioAssay actives

12 with measured affinity, of 30 total; 12 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
2-bromo-N-[(2R)-2-[[(2R,3R,4S)-3,4-dihydroxypyrrolidin-2-yl]methylamino]-2-phenylethyl]benzamide	717598: Inhibition of human ER alpha mannosidase 1	ki	0.1600	uM
(2R,3R,4S)-2-[[[(1R)-1-phenyl-2-phenylmethoxyethyl]amino]methyl]pyrrolidine-3,4-diol	717598: Inhibition of human ER alpha mannosidase 1	ki	0.2300	uM
(2R,3R,4S)-2-[[[(1R)-2-[(4-bromophenoxy)methoxy]-1-phenylethyl]amino]methyl]pyrrolidine-3,4-diol	717598: Inhibition of human ER alpha mannosidase 1	ki	0.3100	uM
(2R,3R,4S)-2-[[[(1R)-2-[(3-bromophenoxy)methoxy]-1-phenylethyl]amino]methyl]pyrrolidine-3,4-diol	717598: Inhibition of human ER alpha mannosidase 1	ki	0.3100	uM
(2R,3R,4S)-2-[[[(1R)-2-[(4-fluorophenoxy)methoxy]-1-phenylethyl]amino]methyl]pyrrolidine-3,4-diol	717598: Inhibition of human ER alpha mannosidase 1	ki	0.4400	uM
(2R,3R,4S)-2-[[[(1R)-2-[(3-fluorophenyl)methoxy]-1-phenylethyl]amino]methyl]pyrrolidine-3,4-diol	717598: Inhibition of human ER alpha mannosidase 1	ki	0.7600	uM
(2R,3R,4S)-2-[[[(1R,2S)-2-hydroxy-1,2-diphenylethyl]amino]methyl]pyrrolidine-3,4-diol	717598: Inhibition of human ER alpha mannosidase 1	ki	0.7900	uM
(2R,3R,4S)-2-[[[(1R)-2-[(2-fluorophenoxy)methoxy]-1-phenylethyl]amino]methyl]pyrrolidine-3,4-diol	717598: Inhibition of human ER alpha mannosidase 1	ki	0.9100	uM
(2R,3R,4S)-2-(hydroxymethyl)pyrrolidine-3,4-diol	717598: Inhibition of human ER alpha mannosidase 1	ki	1.2600	uM
(2R,3R,4S)-2-(aminomethyl)pyrrolidine-3,4-diol	717598: Inhibition of human ER alpha mannosidase 1	ki	1.5900	uM
(2R,3R,4S)-2-[[[(1S,2R)-2-hydroxy-1,2-diphenylethyl]amino]methyl]pyrrolidine-3,4-diol	717598: Inhibition of human ER alpha mannosidase 1	ki	2.6200	uM
(3R,4S)-pyrrolidine-3,4-diol	717598: Inhibition of human ER alpha mannosidase 1	ki	3.2400	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects cotreatment	3
aristolochic acid I	increases expression	1
bisphenol F	affects cotreatment, decreases expression	1
triphenyl phosphate	affects expression	1
lead acetate	affects cotreatment, decreases expression	1
tetrahydropalmatine	increases expression	1
bleomycetin	increases expression	1
aflatoxin B2	decreases methylation	1
methacrylaldehyde	affects cotreatment, increases oxidation	1
beta-methylcholine	affects expression	1
15-acetyldeoxynivalenol	increases expression	1
CGP 52608	affects binding, increases reaction	1
CD 437	decreases expression	1
3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic acid	decreases expression	1
Grape Seed Proanthocyanidins	decreases expression, affects cotreatment	1
jinfukang	affects cotreatment, increases expression	1
Decitabine	increases expression	1
Sunitinib	increases expression	1
Acrolein	affects cotreatment, increases oxidation	1
Cadmium	increases abundance, increases expression	1
Catechin	affects cotreatment, decreases expression	1
Cisplatin	affects cotreatment, increases expression	1
Copper	affects binding, increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Diazinon	increases methylation	1
Disulfiram	affects binding, increases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Ivermectin	decreases expression	1
Manganese	affects expression	1
Mercury	affects expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL2215204	Binding	Inhibition of human ER alpha mannosidase 1	Virtual screening and QSAR study of some pyrrolidine derivatives as α-mannosidase inhibitors for binding feature analysis. — Bioorg Med Chem

Cellosaurus cell lines

1 cell lines: 1 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D2X9	PiZZ1-MAN1B1del	Induced pluripotent stem cell	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