Congenital disorder of glycosylation

Summary

Congenital disorder of glycosylation (MONDO:0015286) is a disease (an umbrella term covering 25 Mondo subtypes) caused by variants in ALG14 and GALNT2, with 29 cohort genes and 9 clinical trials. The dominant Reactome pathway is Asparagine N-linked glycosylation (13 cohort genes). Top therapeutic interventions include galactose and d-galactose.

At a glance

• Prevalence: 1-9 / 100 000 (Europe) [Orphanet-validated]
• Causal genes: ALG14 (GenCC Strong), GALNT2 (GenCC Strong)
• Umbrella term: 25 Mondo subtypes
• Cohort genes: 29
• ClinVar variants: 334
• Clinical trials: 9

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Prevalence at birth	1-9 / 100 000	1.5	Europe	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	congenital disorder of glycosylation
Mondo ID	MONDO:0015286
MeSH	D018981
Orphanet	137
DOID	DOID:5212
NCIT	C84615
SNOMED CT	238049009
UMLS	C0282577
MedGen	76469
GARD	0010307
Is cancer (heuristic)	no

Also known as: carbohydrate deficient glycoprotein syndrome · carbohydrate-deficient glycoprotein syndrome · carbohydrate-deficient glycoprotein syndromes · CDG · congenital disorder of glycosylation · congenital disorders of glycosylation

Data availability: 334 ClinVar variants · 14 GenCC gene-disease records.

Disease family

An umbrella term covering 25 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › congenital disorder of glycosylation

Related subtypes (92): thiopurine metabolic disease, hypercalcemia, infantile, hypermanganesemia with dystonia, abdominal obesity-metabolic syndrome, plasma protein metabolism disease, inherited lipid metabolism disorder, lysosomal storage disease, striatonigral degeneration, inborn metal metabolism disorder, inborn vitamin metabolic disorder, chondrocalcinosis 2, Ehlers-Danlos syndrome, spondylodysplastic type, fish eye disease, aromatase excess syndrome, spondyloepiphyseal dysplasia with congenital joint dislocations, hypertriglyceridemia 1, autosomal dominant myoglobinuria, diastrophic dysplasia, hemolytic anemia due to diphosphoglycerate mutase deficiency, multiple epiphyseal dysplasia type 4, atelosteogenesis type II, inherited threoninemia, inborn glycerol kinase deficiency, achondrogenesis type IB, diabetes mellitus, noninsulin-dependent, 1, diabetes mellitus, noninsulin-dependent, 2, renal tubular acidosis, distal, 3, with or without sensorineural hearing loss, diabetes mellitus, noninsulin-dependent, 3, hypercholesterolemia, familial, 4, hypoalphalipoproteinemia, primary, 1, autosomal recessive proximal renal tubular acidosis, diabetes mellitus, noninsulin-dependent, 4, normophosphatemic familial tumoral calcinosis, apolipoprotein c-III deficiency, hypotonia-failure to thrive-microcephaly syndrome, chondrodysplasia with joint dislocations, gPAPP type, gluthathione peroxidase deficiency, congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, diabetes mellitus, noninsulin-dependent, 5, monogenic diabetes, 2-hydroxyglutaric aciduria, familial hypoparathyroidism, familial intrahepatic cholestasis, inborn aminoacylase deficiency, disorder of lysosomal-related organelles, inborn disorder of porphyrin metabolism, disorder of metabolite absorption and transport, autosomal dominant proximal renal tubular acidosis, neurodegeneration with brain iron accumulation, ferro-cerebro-cutaneous syndrome, familial hypocalciuric hypercalcemia, hypophosphatasia, hereditary amyloidosis, peroxisomal disease, inborn disorder of amino acid and other organic acid metabolism, inborn carbohydrate metabolic disorder, inborn disorder of energy metabolism, inborn disorder of biogenic amine metabolism and transport, inborn disorder of purine or pyrimidine metabolism, spondyloepimetaphyseal dysplasia, PAPSS2 type, hereditary lipodystrophy, hereditary recurrent myoglobinuria, DNA repair disease, 4-hydroxyphenylacetic aciduria, 5-nucleotidase syndrome, antigen-peptide-transporter 2 deficiency, APO A-i deficiency, cardiomyopathy hypogonadism metabolic anomalies, deficiency of coenzyme q cytochrome c reductase, defective apolipoprotein b-100, sulfide quinone oxidoreductase deficiency, congenital disorder of deglycosylation, hypoalphalipoproteinemia, primary, 2, uridine-cytidineuria, NAD(P)HX dehydratase deficiency, inborn disorder of aspartate family metabolism, weinstein kliman scully syndrome, glycoprotein metabolism disease, inherited thyroid metabolism disease, tumoral calcinosis, hyperphosphatemic, familial, 2, tumoral calcinosis, hyperphosphatemic, familial, 3, combined ApoA-I and ApoC-III deficiency, familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome, tumoral calcinosis, hyperphosphatemic, familial, 1, Waldenstrom macroglobulinemia, mucopolysaccharidosis or mucopolysaccharidosis-like disorder, disorder of peptide and amine metabolism, CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis, Lane Hamilton syndrome, SQSTM1-related multisystem proteinopathy, hypertriglyceridemia 2, autosomal dominant dopa-responsive dystonia

Subtypes (25): congenital disorder of glycosylation type I, congenital disorder of glycosylation type II, Larsen-like syndrome, B3GAT3 type, Ehlers-Danlos syndrome, musculocontractural type, temtamy preaxial brachydactyly syndrome, progressive myoclonic epilepsy type 3, autosomal recessive limb-girdle muscular dystrophy type 2P, seizures-scoliosis-macrocephaly syndrome, disorder of protein N-glycosylation, disorder of protein O-glycosylation, inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation, disorder of multiple glycosylation, XYLT1-congenital disorder of glycosylation, congenital muscular dystrophy with intellectual disability, congenital disorder of glycosylation syndrome type 4, congenital disorder of glycosylation with defective fucosylation, SLC10A7-congenital disorder of glycosylation, ALG14-congenital disorder of glycosylation, B3GALT6-congenital disorder of glycosylation, A4GALT-congenital disorder of glycosylation, FAM20B-congenital disorder of glycosylation, ALG10-congenital disorder of glycosylation, congenital disorder of glycosylation, type Ibb, congenital disorder of glycosylation, type Iw, autosomal dominant, congenital disorder of glycosylation, type 1DD

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

334 retrieved; paginated sample, class counts are floors:

152 uncertain significance, 91 likely benign, 21 benign, 21 conflicting classifications of pathogenicity, 20 likely pathogenic, 12 pathogenic/likely pathogenic, 12 pathogenic, 5 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
193419	NM_019109.5(ALG1):c.15C>A (p.Cys5Ter)	ALG1	Pathogenic	criteria provided, multiple submitters, no conflicts
194107	NM_019109.5(ALG1):c.1188-2A>G	ALG1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
224118	NM_019109.5(ALG1):c.1187+3A>G	ALG1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
30539	NM_019109.5(ALG1):c.826C>T (p.Arg276Trp)	ALG1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
424339	NM_019109.5(ALG1):c.1250_1251insTG (p.Ala418fs)	ALG1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
4724	NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)	ALG1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
690315	NM_019109.5(ALG1):c.1312C>T (p.Arg438Trp)	ALG1	Pathogenic	criteria provided, multiple submitters, no conflicts
690317	NM_019109.5(ALG1):c.841G>T (p.Val281Phe)	ALG1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
690318	NM_019109.5(ALG1):c.293C>T (p.Pro98Leu)	ALG1	Pathogenic	criteria provided, single submitter
690319	NM_019109.5(ALG1):c.212C>T (p.Ser71Phe)	ALG1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
690322	NM_019109.5(ALG1):c.1076C>T (p.Ser359Leu)	ALG1	Pathogenic	criteria provided, multiple submitters, no conflicts
690325	NM_019109.5(ALG1):c.1097T>A (p.Leu366Gln)	ALG1	Pathogenic	criteria provided, single submitter
690326	NM_019109.5(ALG1):c.450C>A (p.Ser150Arg)	ALG1	Pathogenic	criteria provided, single submitter
95931	NM_019109.5(ALG1):c.1079C>T (p.Ala360Val)	ALG1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
95934	NM_019109.5(ALG1):c.1187+1G>A	ALG1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
521720	NM_001382.4(DPAGT1):c.380_395dup (p.Ser133fs)	DPAGT1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
567578	NM_001382.4(DPAGT1):c.26dup (p.Met9fs)	LOC126861360	Pathogenic	criteria provided, single submitter
625836	NM_001367916.1(MAGT1):c.972A>C (p.Lys324Asn)	MAGT1	Pathogenic	criteria provided, single submitter
625837	NM_001367916.1(MAGT1):c.895C>T (p.Arg299Ter)	MAGT1	Pathogenic	criteria provided, multiple submitters, no conflicts
1359807	NM_002633.3(PGM1):c.1544G>A (p.Arg515Gln)	PGM1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
7706	NM_000303.3(PMM2):c.422G>A (p.Arg141His)	PMM2	Pathogenic	criteria provided, multiple submitters, no conflicts
1184845	NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter)	SLC37A4	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
96125	NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter)	SRD5A3	Pathogenic	criteria provided, multiple submitters, no conflicts
197351	NM_024592.5(SRD5A3):c.603G>A (p.Trp201Ter)	SRD5A3-AS1	Pathogenic	criteria provided, multiple submitters, no conflicts
690314	NM_019109.5(ALG1):c.866A>G (p.Asp289Gly)	ALG1	Likely pathogenic	criteria provided, multiple submitters, no conflicts
690316	NM_019109.5(ALG1):c.1101C>G (p.His367Gln)	ALG1	Likely pathogenic	no assertion criteria provided
690321	NM_019109.5(ALG1):c.342G>C (p.Leu114Phe)	ALG1	Likely pathogenic	no assertion criteria provided
690324	NM_019109.5(ALG1):c.626T>G (p.Ile209Ser)	ALG1	Likely pathogenic	no assertion criteria provided
690327	NM_019109.5(ALG1):c.209-1G>C	ALG1	Likely pathogenic	no assertion criteria provided
690328	NM_019109.5(ALG1):c.1088G>C (p.Gly363Ala)	ALG1	Likely pathogenic	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 37 · Orphanet: 20 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
ALG14	Strong	Autosomal recessive	congenital myasthenic syndrome 15	5
GALNT2	Strong	Autosomal recessive	congenital disorder of glycosylation, type iit	3
MAN2B2	Moderate	Autosomal recessive	congenital disorder of glycosylation	2
SSR3	Moderate	Autosomal recessive	congenital disorder of glycosylation
STX5	Moderate	Autosomal recessive	congenital disorder of glycosylation	2
STT3B	Supportive	Autosomal recessive	STT3B-congenital disorder of glycosylation	6
ALG10	Limited	Autosomal recessive	congenital disorder of glycosylation	2
FAM20B	Limited	Autosomal recessive	congenital disorder of glycosylation	3
GFUS	Limited	Autosomal recessive	congenital disorder of glycosylation
MAN2A2	Limited	Autosomal recessive	congenital disorder of glycosylation	3
OSTC	Limited	Autosomal recessive	congenital disorder of glycosylation
POFUT1	Limited	Autosomal recessive	congenital disorder of glycosylation	8

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
MAN2B2	Orphanet:695110	MAN2B2-CDG
POFUT1	Orphanet:79145	Dowling-Degos disease
ALG14	Orphanet:353327	Congenital myasthenic syndrome with glycosylation defect
STT3B	Orphanet:370924	STT3B-CDG
SLC35A2	Orphanet:268973	Isolated focal cortical dysplasia type Ia
SLC35A2	Orphanet:356961	SLC35A2-CDG
EDEM3	Orphanet:695783	EDEM3-CDG
ALG1	Orphanet:79327	ALG1-CDG
NUS1	Orphanet:442835	Non-specific early-onset epileptic encephalopathy
ALG3	Orphanet:79321	ALG3-CDG
SRD5A3	Orphanet:324737	SRD5A3-CDG
MAGT1	Orphanet:317476	XMEN
DPAGT1	Orphanet:353327	Congenital myasthenic syndrome with glycosylation defect
DPAGT1	Orphanet:86309	DPAGT1-CDG
TUSC3	Orphanet:88616	Autosomal recessive non-syndromic intellectual disability
ALG13	Orphanet:324422	ALG13-CDG
ALG13	Orphanet:777	X-linked non-syndromic intellectual disability
SLC37A4	Orphanet:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
PGM1	Orphanet:319646	PGM1-CDG
PMM2	Orphanet:79318	PMM2-CDG

Cohort genes → proteins

29 cohort genes, 28 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	29

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
SSR3	HGNC:11325	ENSG00000114850	Q9UNL2	Translocon-associated protein subunit gamma	gencc,clinvar
MAN2B2	HGNC:29623	ENSG00000013288	Q9Y2E5	Epididymis-specific alpha-mannosidase	gencc,clinvar
STX5	HGNC:11440	ENSG00000162236	Q13190	Syntaxin-5	gencc
GFUS	HGNC:12390	ENSG00000104522	Q13630	GDP-L-fucose synthase	gencc
POFUT1	HGNC:14988	ENSG00000101346	Q9H488	GDP-fucose protein O-fucosyltransferase 1	gencc
FAM20B	HGNC:23017	ENSG00000116199	O75063	Glycosaminoglycan xylosylkinase	gencc
ALG10	HGNC:23162	ENSG00000139133	Q5BKT4	Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase A	gencc
OSTC	HGNC:24448	ENSG00000198856	Q9NRP0	Oligosaccharyltransferase complex subunit OSTC	gencc
ALG14	HGNC:28287	ENSG00000172339	Q96F25	UDP-N-acetylglucosamine transferase subunit ALG14	gencc
STT3B	HGNC:30611	ENSG00000163527	Q8TCJ2	Dolichyl-diphosphooligosaccharide–protein glycosyltransferase subunit STT3B	gencc
GALNT2	HGNC:4124	ENSG00000143641	Q10471	Polypeptide N-acetylgalactosaminyltransferase 2	gencc
MAN2A2	HGNC:6825	ENSG00000196547	P49641	Alpha-mannosidase 2x	gencc
RPN2	HGNC:10382	ENSG00000118705	P04844	Dolichyl-diphosphooligosaccharide–protein glycosyltransferase subunit 2	clinvar
SLC35A2	HGNC:11022	ENSG00000102100	P78381	UDP-galactose translocator	clinvar
CTNNBL1	HGNC:15879	ENSG00000132792	Q8WYA6	Beta-catenin-like protein 1	clinvar
MROH8	HGNC:16125	ENSG00000101353	Q9H579	Protein MROH8	clinvar
EDEM3	HGNC:16787	ENSG00000116406	Q9BZQ6	ER degradation-enhancing alpha-mannosidase-like protein 3	clinvar
ALG1	HGNC:18294	ENSG00000033011	Q9BT22	Chitobiosyldiphosphodolichol beta-mannosyltransferase	clinvar
NUS1	HGNC:21042	ENSG00000153989	Q96E22	Dehydrodolichyl diphosphate synthase complex subunit NUS1	clinvar
ALG3	HGNC:23056	ENSG00000214160	Q92685	Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase	clinvar
SRD5A3	HGNC:25812	ENSG00000128039	Q9H8P0	Polyprenal reductase	clinvar
MAGT1	HGNC:28880	ENSG00000102158	Q9H0U3	Dolichyl-diphosphooligosaccharide–protein glycosyltransferase subunit MAGT1	clinvar
DPAGT1	HGNC:2995	ENSG00000172269	Q9H3H5	UDP-N-acetylglucosamine–dolichyl-phosphate N-acetylglucosaminephosphotransferase	clinvar
TUSC3	HGNC:30242	ENSG00000104723	Q13454	Dolichyl-diphosphooligosaccharide–protein glycosyltransferase subunit TUSC3	clinvar
ALG13	HGNC:30881	ENSG00000101901	Q9NP73	UDP-N-acetylglucosamine transferase subunit ALG13	clinvar
SLC37A4	HGNC:4061	ENSG00000137700	O43826	Glucose-6-phosphate exchanger SLC37A4	clinvar
SRD5A3-AS1	HGNC:44138	ENSG00000249700		SRD5A3 antisense RNA 1	clinvar
PGM1	HGNC:8905	ENSG00000079739	P36871	Phosphoglucomutase-1	clinvar
PMM2	HGNC:9115	ENSG00000140650	O15305	Phosphomannomutase 2	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SSR3	Translocon-associated protein subunit gamma	TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins.
MAN2B2	Epididymis-specific alpha-mannosidase	Specifically cleaves terminal alpha 1,6-linked mannose residues on Man3GlcNAc and Man2GlcNAc core oligosaccharides generated by N-glycan degradation pathways, having little activity, if any, on larger mannose oligosaccharides.
STX5	Syntaxin-5	Mediates endoplasmic reticulum to Golgi transport.
GFUS	GDP-L-fucose synthase	Catalyzes the two-step NADP-dependent conversion of GDP-4-dehydro-6-deoxy-D-mannose to GDP-fucose, involving an epimerase and a reductase reaction.
POFUT1	GDP-fucose protein O-fucosyltransferase 1	Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue found in the consensus sequence C2-X(4,5)-[S/T]-C3 of EGF domains, where C2 and C3 are the second and third conserved cy…
FAM20B	Glycosaminoglycan xylosylkinase	Responsible for the 2-O-phosphorylation of xylose in the glycosaminoglycan-protein linkage region of proteoglycans thereby regulating the amount of mature GAG chains.
ALG10	Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase A	Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation.
OSTC	Oligosaccharyltransferase complex subunit OSTC	Subunit of STT3A-containing oligosaccharyl transferase (OST-A) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue wit…
ALG14	UDP-N-acetylglucosamine transferase subunit ALG14	Part of the UDP-N-acetylglucosamine transferase complex that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation.
STT3B	Dolichyl-diphosphooligosaccharide–protein glycosyltransferase subunit STT3B	Catalytic subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within a…
GALNT2	Polypeptide N-acetylgalactosaminyltransferase 2	Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor.
MAN2A2	Alpha-mannosidase 2x	Catalyzes the first committed step in the biosynthesis of complex N-glycans.
RPN2	Dolichyl-diphosphooligosaccharide–protein glycosyltransferase subunit 2	Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Se…
SLC35A2	UDP-galactose translocator	Transports uridine diphosphate galactose (UDP-galactose) from the cytosol into the Golgi apparatus, functioning as an antiporter that exchanges UDP-galactose for UMP.
CTNNBL1	Beta-catenin-like protein 1	Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing.
EDEM3	ER degradation-enhancing alpha-mannosidase-like protein 3	Involved in endoplasmic reticulum-associated degradation (ERAD).
ALG1	Chitobiosyldiphosphodolichol beta-mannosyltransferase	Mannosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation.
NUS1	Dehydrodolichyl diphosphate synthase complex subunit NUS1	With DHDDS, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery.
ALG3	Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase	Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation.
SRD5A3	Polyprenal reductase	Plays a key role in early steps of protein N-linked glycosylation by being involved in the conversion of polyprenol into dolichol.
MAGT1	Dolichyl-diphosphooligosaccharide–protein glycosyltransferase subunit MAGT1	Accessory component of the STT3B-containing form of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an…
DPAGT1	UDP-N-acetylglucosamine–dolichyl-phosphate N-acetylglucosaminephosphotransferase	UDP-N-acetylglucosamine–dolichyl-phosphate N-acetylglucosaminephosphotransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation.
TUSC3	Dolichyl-diphosphooligosaccharide–protein glycosyltransferase subunit TUSC3	Acts as accessory component of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consens…
ALG13	UDP-N-acetylglucosamine transferase subunit ALG13	Catalytic subunit of the UDP-N-acetylglucosamine transferase complex that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation.
SLC37A4	Glucose-6-phosphate exchanger SLC37A4	Inorganic phosphate and glucose-6-phosphate antiporter of the endoplasmic reticulum.
PGM1	Phosphoglucomutase-1	Catalyzes the reversible isomerization of alpha-D-glucose 1-phosphate to alpha-D-glucose 6-phosphate.
PMM2	Phosphomannomutase 2	Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.

Protein-family classification

Druggable: 14 · Difficult: 0 · Unknown: 15 · Druggable fraction: 0.48

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Enzyme (other)	13	5.4×	5e-07
Transporter	1	2.7×	0.470
Other/Unknown	15	0.9×	0.737

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
SSR3	Other/Unknown	no		SSR3
MAN2B2	Other/Unknown	no		Glyco_hydro_38_N, Gal_mutarotase_sf_dom, Glyco_hydro/deAcase_b/a-brl
STX5	Other/Unknown	no		T_SNARE_dom, Syntaxin/epimorphin_CS, SNARE
GFUS	Other/Unknown	no		Epimerase_deHydtase, GDP_fucose/colitose_synth, NAD(P)-bd_dom_sf
POFUT1	Enzyme (other)	yes	2.4.1.221	GDP-Fuc_O-FucTrfase, POFUT1
FAM20B	Other/Unknown	no		FAM20_C, FAM20
ALG10	Enzyme (other)	yes	2.4.1.256	Alg10
OSTC	Enzyme (other)	yes	2.4.99.18	MAGT1/OST3/OST6, OSTC
ALG14	Other/Unknown	no		Oligosacch_biosynth_Alg14
STT3B	Enzyme (other)	yes	2.4.99.18	Oligo_trans_STT3, STT3_N, STT3-PglB_core
GALNT2	Enzyme (other)	yes	2.4.1.41	Ricin_B_lectin, Glyco_trans_2-like, Nucleotide-diphossugar_trans
MAN2A2	Other/Unknown	no		Glyco_hydro_38_N, Gal_mutarotase_sf_dom, Glyco_hydro/deAcase_b/a-brl
RPN2	Enzyme (other)	yes	2.4.99.18	Swp1, Ribophorin_II_N, Ribophorin_II_3rd
SLC35A2	Other/Unknown	no		Nuc_sug_transpt, EmrE-like
CTNNBL1	Other/Unknown	no		ARM-like, CTNNBL1_N, ARM-type_fold
MROH8	Other/Unknown	no		ARM-type_fold, Maestro_heat-like_prot, Maestro-like_HEAT
EDEM3	Other/Unknown	no		Glyco_hydro_47, PA_domain, 6hp_glycosidase-like_sf
ALG1	Enzyme (other)	yes	2.4.1.142	Glyco_trans_1, ALG1-like
NUS1	Enzyme (other)	yes	2.5.1.87	UPP_synth-like, UPP_synth-like_sf, Nus1/NgBR
ALG3	Enzyme (other)	yes	2.4.1.258	Glycosyltransferase_ALG3
SRD5A3	Enzyme (other)	yes	1.3.1.22	3-oxo-5_a-steroid_4-DH_C, Dfg10/SRD5A3
MAGT1	Other/Unknown	no		MAGT1/OST3/OST6, Thioredoxin-like_sf
DPAGT1	Enzyme (other)	yes	2.7.8.15	Glycosyl_transferase_4, GPT, DPAGT1_ins
TUSC3	Other/Unknown	no		MAGT1/OST3/OST6, Thioredoxin-like_sf
ALG13	Other/Unknown	no		Tudor, OTU_dom, Glyco_trans_28_C
SLC37A4	Transporter	yes		Sugar_P_transporter, MFS, MFS_dom
SRD5A3-AS1	Other/Unknown	no
PGM1	Enzyme (other)	yes	5.4.2.2	Alpha-D-phosphohexomutase_SF, A-D-PHexomutase_a/b/a-I, A-D-PHexomutase_a/b/a-II
PMM2	Enzyme (other)	yes	5.4.2.8	PMM, HAD-SF_hydro_IIB, HAD_sf

Expression context

Cohort genes with no expression data: 0.

28 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	29
unknown	0

Top tissues across cohort

Tissue	Cohort genes
stromal cell of endometrium	7
body of pancreas	4
calcaneal tendon	3
corpus epididymis	3
left testis	3
right testis	3
descending thoracic aorta	2
bone marrow cell	2
adrenal tissue	2
primordial germ cell in gonad	2
islet of Langerhans	2
tibia	2
jejunal mucosa	2
pylorus	2
mucosa of transverse colon	2
right lobe of liver	2
palpebral conjunctiva	2
tendon of biceps brachii	1
blood	1
granulocyte	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SSR3	279	ubiquitous	marker	body of pancreas, stromal cell of endometrium, calcaneal tendon
MAN2B2	283	ubiquitous	marker	tendon of biceps brachii, stromal cell of endometrium, descending thoracic aorta
STX5	143	ubiquitous	marker	bone marrow cell, blood, granulocyte
GFUS	134	ubiquitous	marker	body of stomach, skin of abdomen, esophagus mucosa
POFUT1	160	ubiquitous	marker	stromal cell of endometrium, ventricular zone, adrenal tissue
FAM20B	294	ubiquitous	marker	lateral nuclear group of thalamus, Brodmann (1909) area 10, saphenous vein
ALG10	172	ubiquitous	yes	primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis, bone marrow cell
OSTC	254	ubiquitous	marker	stromal cell of endometrium, islet of Langerhans, tibia
ALG14	235	ubiquitous	marker	corpus epididymis, jejunal mucosa, colonic mucosa
STT3B	263	ubiquitous	marker	ileal mucosa, cardiac muscle of right atrium, upper arm skin
GALNT2	285	ubiquitous	marker	descending thoracic aorta, thoracic aorta, ascending aorta
MAN2A2	293	ubiquitous	marker	right hemisphere of cerebellum, tibial nerve, sural nerve
RPN2	303	ubiquitous	marker	corpus epididymis, pylorus, placenta
SLC35A2	277	ubiquitous	marker	secondary oocyte, bronchial epithelial cell, epithelium of bronchus
CTNNBL1	280	ubiquitous	marker	left testis, right testis, spleen
MROH8	174	ubiquitous	marker	right testis, left testis, primordial germ cell in gonad
EDEM3	280	ubiquitous	marker	pylorus, mucosa of sigmoid colon, jejunal mucosa
ALG1	185	ubiquitous	marker	stromal cell of endometrium, buccal mucosa cell, body of pancreas
NUS1	255	broad	marker	endometrium, tibia, islet of Langerhans
ALG3	208	ubiquitous	marker	mucosa of transverse colon, stromal cell of endometrium, right lobe of liver
SRD5A3	254	ubiquitous	marker	palpebral conjunctiva, gall bladder, olfactory segment of nasal mucosa
MAGT1	282	ubiquitous	marker	palpebral conjunctiva, corpus epididymis, esophagus squamous epithelium
DPAGT1	271	ubiquitous	marker	mucosa of transverse colon, body of pancreas, right adrenal gland
TUSC3	266	ubiquitous	marker	type B pancreatic cell, cortical plate, stromal cell of endometrium
ALG13	287	ubiquitous	marker	calcaneal tendon, adrenal tissue, right uterine tube
SLC37A4	134	ubiquitous	marker	right lobe of liver, liver, duodenum
SRD5A3-AS1	162	tissue_specific	marker	sperm, left testis, right testis
PGM1	292	ubiquitous	marker	skeletal muscle tissue of rectus abdominis, biceps brachii, vastus lateralis
PMM2	139	ubiquitous	marker	body of pancreas, calcaneal tendon, rectum

Protein interactions among cohort

Intra-cohort edges: 34.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
GFUS	3,199
RPN2	3,035
STX5	2,669
STT3B	2,615
PGM1	2,366
CTNNBL1	2,346
ALG1	2,187
ALG13	2,071
NUS1	2,058
PMM2	2,002

Intra-cohort edges

A	B	Sources
ALG1	ALG13	string_interaction
ALG1	ALG14	string_interaction
ALG1	ALG3	string_interaction
ALG1	DPAGT1	string_interaction
ALG1	PMM2	string_interaction
ALG10	ALG3	string_interaction
ALG10	DPAGT1	string_interaction
ALG13	ALG14	string_interaction
ALG13	ALG3	string_interaction
ALG13	DPAGT1	string_interaction
ALG14	ALG3	string_interaction
ALG14	DPAGT1	string_interaction
ALG3	DPAGT1	string_interaction
ALG3	PMM2	string_interaction
DPAGT1	PMM2	string_interaction
DPAGT1	SRD5A3	string_interaction
EDEM3	RPN2	biogrid_interaction
EDEM3	STT3B	biogrid_interaction
GALNT2	STX5	intact
GFUS	POFUT1	string_interaction
MAGT1	OSTC	string_interaction
MAGT1	RPN2	intact, string_interaction
MAGT1	SSR3	biogrid_interaction
MAGT1	STT3B	biogrid_interaction, string_interaction
NUS1	SRD5A3	string_interaction
OSTC	RPN2	string_interaction
OSTC	SSR3	string_interaction
OSTC	STT3B	string_interaction
OSTC	TUSC3	string_interaction
PMM2	SRD5A3	string_interaction
RPN2	STT3B	intact, string_interaction
RPN2	TUSC3	biogrid_interaction, intact, string_interaction
SSR3	STT3B	string_interaction
STT3B	TUSC3	intact, string_interaction

Structural data

PDB: 16 · AlphaFold-only: 12 · No structure: 1

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
SLC37A4	O43826	25
PGM1	P36871	16
GALNT2	Q10471	13
CTNNBL1	Q8WYA6	9
NUS1	Q96E22	9
DPAGT1	Q9H3H5	8
PMM2	O15305	7
RPN2	P04844	6
GFUS	Q13630	5
OSTC	Q9NRP0	5
TUSC3	Q13454	4
SSR3	Q9UNL2	3
POFUT1	Q9H488	2
STX5	Q13190	1
STT3B	Q8TCJ2	1
MAGT1	Q9H0U3	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
ALG10	Q5BKT4	93.51
ALG1	Q9BT22	93.24
FAM20B	O75063	93.14
MAN2B2	Q9Y2E5	91.55
MAN2A2	P49641	91.27
ALG14	Q96F25	91.06
SRD5A3	Q9H8P0	89.07
ALG3	Q92685	89.05
SLC35A2	P78381	80.59
EDEM3	Q9BZQ6	78.50
MROH8	Q9H579	74.20
ALG13	Q9NP73	54.42

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 85. Enrichment computed across 29 evidence-associated genes (26 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 26 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Asparagine N-linked glycosylation	13	30.1×	4e-15	RPN2, STX5, ALG1, ALG3, ALG10, OSTC, SRD5A3, ALG14 (+5 more)
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	7	55.9×	1e-09	ALG1, ALG3, ALG10, SRD5A3, ALG14, DPAGT1, ALG13
PD-L1(CD274) glycosylation and translocation to plasma membrane	5	99.8×	3e-08	RPN2, OSTC, MAGT1, TUSC3, STT3B
Maturation of spike protein	5	51.1×	8e-07	RPN2, OSTC, MAGT1, TUSC3, STT3B
Diseases associated with N-glycosylation of proteins	4	97.6×	1e-06	ALG1, ALG3, ALG14, ALG13
Maturation of DENV proteins	5	40.7×	2e-06	RPN2, OSTC, MAGT1, TUSC3, STT3B
Post-translational protein modification	10	7.4×	4e-06	RPN2, STX5, ALG1, ALG3, ALG10, SRD5A3, ALG14, MAGT1 (+2 more)
Diseases of glycosylation	5	25.2×	1e-05	ALG1, ALG3, SRD5A3, ALG14, ALG13
Metabolism of proteins	11	5.2×	2e-05	SSR3, RPN2, STX5, ALG1, ALG3, ALG10, SRD5A3, ALG14 (+3 more)
Defective ALG14 causes ALG14-CMS	2	439.2×	4e-05	ALG14, ALG13
Diseases of metabolism	5	15.5×	1e-04	ALG1, ALG3, SRD5A3, ALG14, ALG13
Synthesis of dolichyl-phosphate	2	125.5×	7e-04	NUS1, SRD5A3
Disease	8	4.0×	0.003	RPN2, SLC35A2, ALG1, ALG3, SRD5A3, ALG14, MAGT1, ALG13
Defective PMM2 causes PMM2-CDG	1	439.2×	0.009	PMM2
Defective ALG1 causes CDG-1k	1	439.2×	0.009	ALG1
Defective ALG3 causes CDG-1d	1	439.2×	0.009	ALG3
Defective SRD5A3 causes SRD5A3-CDG, KHRZ	1	439.2×	0.009	SRD5A3
Defective PGM1 causes PGM1-CDG	1	439.2×	0.009	PGM1
Defective SLC35A2 causes congenital disorder of glycosylation 2M (CDG2M)	1	439.2×	0.009	SLC35A2
Miscellaneous transport and binding events	2	33.8×	0.009	MAGT1, TUSC3
Translation of Structural Proteins	2	31.4×	0.009	RPN2, MAGT1
Regulation of CDH1 posttranslational processing and trafficking to plasma membrane	2	25.8×	0.010	RPN2, OSTC
Late SARS-CoV-2 Infection Events	2	22.5×	0.013	RPN2, MAGT1
Defective DPAGT1 causes CDG-1j, CMSTA2	1	219.6×	0.014	DPAGT1
Defective DHDDS causes RP59	1	219.6×	0.014	NUS1
Diseases associated with glycosylation precursor biosynthesis	1	219.6×	0.014	SRD5A3
Intra-Golgi traffic	2	20.0×	0.014	STX5, MAN2A2
Lysosomal oligosaccharide catabolism	1	109.8×	0.028	MAN2B2
Pre-NOTCH Processing in the Endoplasmic Reticulum	1	73.2×	0.037	POFUT1
Synthesis of GDP-mannose	1	73.2×	0.037	PMM2

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 27 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
protein N-linked glycosylation	12	117.0×	4e-21	RPN2, ALG1, ALG3, ALG10, OSTC, ALG14, MAGT1, DPAGT1 (+4 more)
dolichol-linked oligosaccharide biosynthetic process	7	218.4×	4e-14	ALG1, ALG3, ALG10, SRD5A3, ALG14, DPAGT1, ALG13
obsolete protein N-linked glycosylation via asparagine	4	99.9×	2e-06	OSTC, MAGT1, TUSC3, STT3B
mannose metabolic process	3	234.1×	4e-06	MAN2B2, MAN2A2, PMM2
magnesium ion transmembrane transport	2	312.1×	2e-04	MAGT1, TUSC3
dolichyl monophosphate biosynthetic process	2	138.7×	0.001	NUS1, SRD5A3
magnesium ion transport	2	89.2×	0.003	MAGT1, TUSC3
glycoprotein catabolic process	2	78.0×	0.003	MAN2B2, STT3B
polyprenol catabolic process	1	624.1×	0.014	SRD5A3
dolichyl diphosphate biosynthetic process	1	312.1×	0.016	NUS1
somatic diversification of immunoglobulins	1	312.1×	0.016	CTNNBL1
obsolete GDP-D-mannose biosynthetic process from fructose-6-phosphate	1	312.1×	0.016	PMM2
UDP-galactose transmembrane transport	1	312.1×	0.016	SLC35A2
ubiquitin-dependent glycoprotein ERAD pathway	1	312.1×	0.016	EDEM3
negative regulation of proteoglycan biosynthetic process	1	312.1×	0.016	FAM20B
gluconeogenesis	2	24.0×	0.016	SLC37A4, PGM1
cognition	2	21.2×	0.019	MAGT1, TUSC3
‘de novo’ GDP-L-fucose biosynthetic process	1	208.1×	0.020	GFUS
obsolete GDP-mannose biosynthetic process from mannose	1	208.1×	0.020	PMM2
glucose metabolic process	2	18.9×	0.020	SLC37A4, PGM1
regulation of intracellular cholesterol transport	1	156.0×	0.024	NUS1
beta-D-galactose catabolic process via UDP-galactose, Leloir pathway	1	124.8×	0.027	PGM1
protein O-linked glycosylation via fucose	1	124.8×	0.027	POFUT1
GDP-mannose biosynthetic process	1	104.0×	0.027	PMM2
glucose-6-phosphate transport	1	104.0×	0.027	SLC37A4
GDP-mannose metabolic process	1	104.0×	0.027	GFUS
Golgi disassembly	1	104.0×	0.027	STX5
ERAD pathway	2	13.4×	0.027	EDEM3, STT3B
fucose metabolic process	1	89.2×	0.029	POFUT1
transmembrane transport	2	12.5×	0.029	MAGT1, TUSC3

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 1 · Phased (≥1): 2 · Undrugged: 27

Druggability breadth: 14 of 29 evidence-associated genes (48%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
GALNT2	2	2
PMM2	1	3
SSR3	0	0
MAN2B2	0	0
STX5	0	0
GFUS	0	0
POFUT1	0	0
FAM20B	0	0
ALG10	0	0
OSTC	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
EBSELEN	3	PMM2
GALLIC ACID	2	GALNT2
ELLAGIC ACID	2	GALNT2

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 13.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
GALNT2	19	Binding:19
RPN2	7	Binding:7
DPAGT1	7	Binding:7
SLC37A4	5	Binding:5
PMM2	3	Binding:3
MAN2B2	2	Binding:2
STT3B	2	Binding:2
SSR3	1	Binding:1
OSTC	1	Binding:1
SLC35A2	1	ADMET:1
CTNNBL1	1	Binding:1
ALG1	1	Binding:1
ALG3	1	Binding:1
SRD5A3	1	Binding:1
MAGT1	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
POFUT1	2.4.1.221	peptide-O-fucosyltransferase
ALG10	2.4.1.256	dolichyl-P-Glc:Glc2Man9GlcNAc2-PP-dolichol alpha-1,2-glucosyltransferase
OSTC	2.4.99.18	dolichyl-diphosphooligosaccharide-protein glycotransferase
STT3B	2.4.99.18	dolichyl-diphosphooligosaccharide-protein glycotransferase
GALNT2	2.4.1.41	polypeptide N-acetylgalactosaminyltransferase
RPN2	2.4.99.18	dolichyl-diphosphooligosaccharide-protein glycotransferase
ALG1	2.4.1.142	chitobiosyldiphosphodolichol beta-mannosyltransferase
NUS1	2.5.1.87	ditrans,polycis-polyprenyl diphosphate synthase [(2E,6E)-farnesyl diphosphate specific]
ALG3	2.4.1.258	dolichyl-P-Man:Man5GlcNAc2-PP-dolichol alpha-1,3-mannosyltransferase
SRD5A3	1.3.1.22, 1.3.1.94, 1.3.1.B13	3-oxo-5alpha-steroid 4-dehydrogenase (NADP+), polyprenal reductase,
DPAGT1	2.7.8.15	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase
PGM1	5.4.2.2	phosphoglucomutase (alpha-D-glucose-1,6-bisphosphate-dependent)
PMM2	5.4.2.8	phosphomannomutase

Pharmacogenomics

Cohort genes with a PharmGKB record: 28; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

3 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
EBSELEN	3	PMM2
GALLIC ACID	2	GALNT2
ELLAGIC ACID	2	GALNT2

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	2	GALNT2, PMM2
C	Druggable family + PDB, no drug	8	POFUT1, OSTC, STT3B, RPN2, NUS1, DPAGT1, SLC37A4, PGM1
D	Druggable family + AlphaFold only, no drug	4	ALG10, ALG1, ALG3, SRD5A3
E	Difficult family or no structure, no drug	15	SSR3, MAN2B2, STX5, GFUS, FAM20B, ALG14, MAN2A2, SLC35A2, CTNNBL1, MROH8 (+5 more)

Undrugged target profiles

27 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
SRD5A3	1	PMM2
DPAGT1	7	PMM2
SSR3	1	—
MAN2B2	2	—
STX5	0	—
GFUS	0	—
POFUT1	0	—
FAM20B	0	—
ALG10	0	—
OSTC	1	—
ALG14	0	—
STT3B	2	—
MAN2A2	0	—
RPN2	7	—
SLC35A2	1	—
CTNNBL1	1	—
MROH8	0	—
EDEM3	0	—
ALG1	1	—
NUS1	0	—
ALG3	1	—
MAGT1	1	—
TUSC3	0	—
ALG13	0	—
SLC37A4	5	—
SRD5A3-AS1	0	—
PGM1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 9.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	8
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07572825	PHASE1	NOT_YET_RECRUITING	Assessing the Safety and Tolerability of NMN in DHDDS-CDG
NCT02089789	Not specified	RECRUITING	Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation
NCT04199000	Not specified	RECRUITING	Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
NCT02503267	Not specified	UNKNOWN	Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects
NCT02955264	Not specified	COMPLETED	Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation
NCT03250728	Not specified	COMPLETED	Role of the Endothelium in Stroke-like Episode Among CDG Patients
NCT03560570	Not specified	COMPLETED	Study of Hemostasis in Patients With Congenital Disorder of Glycosylation
NCT04198987	Not specified	COMPLETED	Dietary Monosaccharide Supplementation in Patients With Congenital Disorders of Glycosylation
NCT04201067	Not specified	COMPLETED	Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
GALACTOSE	3	1
D-GALACTOSE	0	1