Known Human Glycosylation Disorders

Hudson H. Freeze; Harry Schachter; Taroh Kinoshita

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Varki A, Cummings RD, Esko JD, et al., editors. Essentials of Glycobiology [Internet]. 3rd edition. Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press; 2015-2017.

Essentials of Glycobiology [Internet]. 3rd edition.

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Online Appendix 45AKnown Human Glycosylation Disorders

Hudson H. Freeze, Harry Schachter, and Taroh Kinoshita.

Author Information and Affiliations

Last Update: August 21, 2018.

Table 1

Disorder	Gene			Function			Main clinical features		Year	Reference
N-linked pathway
DPAGT1–CDG	DPAGT1		GlcNAc-1-P transferase		608093	191350	ID, Hy, Sz, M, infections, early death, CMS		2003	PMID: 12872255
ALG1–CDG	ALG1		β1-4 mannosyltransferase		608540	605907	ID, Hy, Sz, M, infections, early death		2004	PMID: 14709599 PMID: 14973778 PMID: 14973782
ALG2–CDG ALG2–CMS	ALG2		α1-3 mannosyltransferase		607906	607905	ID, Hy, Sz, infections, hypomyelination, hepatomegaly, early death CMS		2003 2013	PMID: 12684507 PMID: 23404334
ALG3–CDG	ALG3		α1-3 mannosyltransferase		601110	608750	ID, Hy, Sz, M, optic nerve atrophy		1999	PMID: 10581255
ALG6–CDG	ALG6		α1-3 glucosyltransferase		603147	604566	ID, Hy, Sz, M, ataxia		1999	PMID: 10359825
ALG8–CDG	ALG8		α1-3 glucosyltransferase		608104	608103	DD, hepatomegaly, protein-losing enteropathy, coagulopathy, ascites, renal failure, early death		2003	PMID: 12480927
ALG9–CDG	ALG9		α1-2 mannosyltransferase		608776	606941	ID, Hy, Sz, hepatomegaly		2004	PMID: 15148656
ALG11–CDG	ALG11		α1-2 mannosyltransferase		613661	613666	ID, Hy, Sz, deafness, dysmorphism		2010	PMID: 20080937
ALG12–CDG	ALG12		α1-6 mannosyltransferase		607143	607144	ID, Hy, Sz, M, recurrent infections		2002	PMID: 11983712 PMID: 12217961
ALG13–CDG	ALG13		UDP-GlcNAc transferase		300884	300776	M, Sz, hepatomegaly, horizontal nystagmus, optic nerve atrophy, infections		2012	PMID: 22492991
ALG14–CMS	ALG14		UDP-GlcNAc transferase		616227	612866	CMS		2013	PMID: 23404334
RFT1–CDG	RFT1		Man5GlcNAc2 flippase		612015	611908	ID, Hy, Sz, M, hepatomegaly, coagulopathy, deafness		2008	PMID: 18313027
TUSC3–CDG	TUSC3		subunit of the OST complex		611093	601385	NSID		2008	PMID: 18452889 PMID: 18455129
MAGT1–CDG	MAGT1		subunit of the OST complex		300716	300715	XLNSID		2008	PMID: 18455129
DDOST–CDG	DDOST		subunit of the OST complex		614507	602202	ID, DD, failure to thrive, gastroesophageal reflux, ear infections, oromotor dysfunction		2012	PMID: 22305527
STT3A–CDG	STT3A		subunit of the OST complex		615596	601134	ID, DD, H, M, Sz, failure to thrive		2013	PMID: 23842455
STT3B–CDG	STT3B		subunit of the OST complex		615597	608605	ID, DD, H, M, Sz, failure to thrive, thrombocytopenia, genital abnormalities		2013	PMID: 23842455
NGLY1–CDG	NGLY1		N-glycanase-1		615273	610661	ID, DD, Sz, abnormal liver function		2012	PMID: 22581936
SSR4–CDG	SSR4		signal sequence receptor, delta		300934	300090	M, ID, Sz, gastroesophageal reflux		2013	PMID: 24218363
SSR3–CDG	SSR3		signal sequence receptor, gamma			606213	Sz, ID, DD, M, abnormal brain structure
MGAT2–CDG	MGAT2		GlcNAc-transferase II		212066	602616	ID, feeding problems, severe diarrhea, growth retardation, dysmorphism		1996	PMID: 8808595
MOGS–CDG	MOGS		α1-2 glucosidase		606056	601336	Hy, Sz, hepatomegaly, hypoventilation, feeding problems, dysmorphism, fatal, unique tetrasaccharide in urine		2000	PMID: 10788335
Autosomal-Dominant Polycystic Kidney and Liver Disease	GANAB		α1-3 glucosidase		600666	104160	autosomal-dominant polycystic kidney and liver disease		2016	PMID: 27259053
MAN1B1–CDG	MAN1B1		α1-2 mannosidase		614202	604346	NSID, delayed motor and speech development, variable dysmorphic features, truncal obesity, macrocephaly		2011	PMID: 21763484
I-cell disease	GNPTAB		GlcNAc-1-P transferase		252500 252600	607840	ID, congenital dislocation of the hip, thoracic deformities, hernia, hyperplastic gums, coarse facial features, restricted joint movement		1981	PMID: 6461005
Autosomal-dominant polycystic liver disease	PRKCSH		glucosidase II subunit β		174050	177060	autosomal-dominant polycystic liver disease		2003	PMID: 12529853 PMID: 12577059
Congenital severe neutropenia	JAGN1		endoplasmic reticulum organization		616022	616012	congenital severe neutropenia, recurrent infections		2014	PMID: 25129144 PMID: 25129145
FUT8-CDG	FUT8		α1-6 fucosyltransferase		618005	602589	Severe DD, growth retardation, feeding problems, short stature, respiratory difficulties		2017	PMID: 29304374
Potential to effect multiple pathways
PMM2–CDG	PMM2			conversion of Man-6-P to Man-1-P	212065	601785		ID, Hy, Sz, strabismus, cerebellar hypoplasia, failure to thrive, cardiomyopathy, 20% lethality in the first 5 yr	1997	PMID: 9140401
MPI–CDG	MPI			conversion of Fruct-6-P and Man-6-P	602579	154550		Hepatic fibrosis, coagulopathy, hypoglycemia, protein-losing enteropathy, vomiting, no neurological symptoms	1998	PMID: 9525984
DHDDS–CDG	DHDDS			dehydrodolichol diphosphate synthase	613861	608172		retinitis pigmentosa in Ashkenazi Jews	2011	PMID: 21295282 PMID: 21295283
DOLK–CDG	DOLK			Dol kinase	610768	610746		ID, Hy, Sz, hypoglycemia, ichthyosis, dilated cardiomyopathy, cardiac failure	2007	PMID: 17273964
SRD5A3–CDG	SRD5A3			polyprenol reductase	612379	611715		ID, Hy, eye and brain malformations, nystagmus, hepatic dysfunction, coagulopathy, ichthyosis	2010	PMID: 20637498
DPM1–CDG	DPM1			Dol-P-Man synthase complex	608799	603503		ID, Hy, Sz, M, dysmorphism, coagulopathy	2000	PMID: 10642597 PMID: 10642602
DPM2–CDG	DPM2			Dol-P-Man synthase complex	615042	603564		dystroglycanopathy, Sz, Hy, M, dysmorphism, cerebellar hypoplasia, early death	2012	PMID: 23109149
DPM3–CDG	DPM3			Dol-P-Man synthase complex	612937	605951		dystroglycanopathy, dilated cardiomyopathy, stroke-like episode	2009	PMID: 19576565
MPDU1–CDG	MPDU1			Man-P-Dol utilization	609180	604041		ID, Sz, failure to thrive, ichthyosis-like skin disorder, severe feeding difficulties	2001	PMID: 11733556 PMID: 11733564
GMPPA–CDG	GMPPA			GDP-Man pyrophosphorylase A	615510	615495		achalasia, alacrima, neurological deficits	2013	PMID: 24035193
SLC35C1–CDG	SLC35C1			GDP-Fuc transporter	266265	605881		ID, Hy, Sz, M, unusual facial appearance, dwarfism, infections with neutrophilia	2001	PMID: 11326279
B4GALT1–CDG	B4GALT1			β1-4 galactosyltransferase	607091	137060		ID, DD, Hy, macrocephaly, Dandy–Walker malformation, coagulopathy, myopathy	2002	PMID: 11901181
SLC35A1–CDG	SLC35A1			CMP-sialic acid transporter	603585	605634		ID, Sz, ataxia, bleeding, thrombocytopenia, neutropenia, renal and cardiac involvement	2005 2013	PMID: 15576474 PMID: 23873973
SLC35A2–CDG	SLC35A2			UDP-Gal transporter	300896	314375		ID, Sz, skeletal anomalies	2013	PMID: 23561849
SLC35A3–CDG	SLC35A3			UDP-GlcNAc transporter	615553	605632		autism spectrum disorder, Hy, epilepsy, arthrogryposis	2013	PMID: 24031089
SLC39A8–CDG	SLC39A8			manganese transporter	616721	608732		cranial asymmetry, severe infantile spasms with hypsarrhythmia, dysproportionate dwarfism	2015	PMID: 26637979 PMID: 26637978
COG1–CDG COG1–CCMS	COG1			Golgi-to-ER retrograde transport	611209 117650	606973		ID, shortened long bones, facial dysmorphism CCMS	2009	PMID: 16537452 PMID: 19008299
COG2–CDG	COG2			Golgi-to-ER retrograde transport	617395	606974		M, psychomotor retardation, Sz, liver dysfunction, hypocupremia, hypoceruloplasminemia	2014	PMID: 24784932
COG4–CDG	COG4			Golgi-to-ER retrograde transport	613489	606976		DD, Hy, Sz, nystagmus, hepatosplenomegaly, failure to thrive in infancy with recurrent diarrhea, early death	2009	PMID: 19494034
COG5–CDG	COG5			Golgi-to-ER retrograde transport	613612	606821		ID, Hy, delayed speech, ataxia	2009	PMID: 19690088
COG6–CDG	COG6			Golgi-to-ER retrograde transport	614576	606977		severe neurologic disorder, Sz, vomiting	2010	PMID: 20605848
COG7–CDG	COG7			Golgi-to-ER retrograde transport	608779	606978		Hy, M, growth retardation, adducted thumbs, failure to thrive, cardiac anomalies, wrinkled skin, early death	2004	PMID: 15107842
COG8 – CDG	COG8			Golgi-to-ER retrograde transport	611182	606979		ID, Hy, Sz	2007	PMID: 17331980 PMID: 17220172
ATP6V0A2–CDG wrinkly skin syndrome	ATP6V0A2			Golgi pH regulator	219200 278250	611716		cutis laxa, congenital hip dislocation, joint hyperlaxity, dysmorphism, feeding problems, late closure of the fontanelles, varying CNS involvement	2008	PMID: 18157129
TMEM165–CDG	TMEM165			Golgi pH regulator and, manganese and calcium homeostasis	614727	614726		ID, Hy, M, short stature, dysmorphism, eye abnormalities, hepatomegaly, skeletal dysplasia	2012	PMID: 22683087
TMEM199–CDG	TMEM199			Golgi trafficking	616829	616815		mild phenotype of hepatic steatosis, elevated aminotransferases, alkaline phosphatase, hypercholesterolemia, low serum ceruloplasmin	2016	PMID:26833330
CCDC115–CDG	CCDC115			Golgi homeostasis	616828	613734		storage-disease-like phenotype involving hepatosplenomegaly, which regressed with age, highly elevated bone-derived alkaline phosphatase, elevated aminotransferases, and elevated cholesterol, in combination with abnormal copper metabolism and neurological symptoms	2016	PMID:26833332
ATP6AP1-CDG	ATP6AP1			Golgi vacuolar ATPase	300972	300197		immunodeficiency, hepatopathy, and variable neurocognitive abnormalities	2016	PMID: 27231034
ATP6AP2-CDG	ATP6AP2			Golgi vacuolar ATPase	N/A	300556		ID, liver disease, immunodeficiency, cutis laxa
ATP6V1A-CDG	ATP6V1A			Golgi vacuolar ATPase	617403	607027		cutis laxa, facial dysmorphism, cardiac abnormalities	2017	PMID: 28065471
ATP6V1E1-CDG	ATP6V1E1			Golgi vacuolar ATPase	617402	108746		cutis laxa, facial dysmorphism, cardiac abnormalities	2017	PMID: 28065471
Congenital myasthenic syndrome	GFPT1			glutamine-fruct-6-P transaminase 1	610542	138292		congenital myasthenic syndrome with tubular aggregates	2011	PMID: 21310273
Achondrogenesis type 1A	TRIP11			Golgi structure	200600	604505		lethal achondrogenesis, deficient ossification	2010	PMID: 20089971
PGM1–CDG Glycogen storage disease 14	PGM1			reversible conversion of Glc-1-P and Glc-6-P	614921 612934	171900		neurologically normal, split uvula, hepatopathy, hypoglycemia, rhabdomyolysis, dilated cardiomyopathy, cardiac arrest, malignant hyperthermia	2012	PMID: 22492991
HIES	PGM3			reversible conversion of GlcNAc-1-P and GlcNAc-6-P	615816	172100		severe atopy, increased serum IgE levels, immune deficiency, autoimmunity, motor and neurocognitive impairment	2014	PMID: 24589341 PMID: 24698316
Neutropenia, severe congenital 4	G6PC3			Glc-6 phosphatase, catalytic, 3	612541	611045		severe congenital neutropenia, recurrent infections, prominent superficial veins, cardiac abnormalities	2011	PMID: 21385794
Glycogen storage disease Ib and Ic	G6PT1			Glc-6-P transporter	232220 232240	602671		neutrophil dysfunction	2011	PMID: 21385794
NSID West syndrome	ST3GAL3			N-acetyllactosaminide α2-3 sialyltransferase	611090 615006	606494		NSID, infantile spasms, hypsarrhythmia	2011 2013	PMID: 21907012 PMID: 23252400
CLSD	SEC23A			Golgi trafficking	607812	610511		late-closing fontanels, sutural cataracts, facial dysmorphism, skeletal defects	2006	PMID: 16980979
CDA-II	SEC23B			Golgi trafficking	224100	610512		disrupted erythropoiesis with multinucleated erythroblasts in bone marrow	2009	PMID: 19561605
Autosomal-dominant polycystic liver disease	SEC63			Golgi trafficking	174050	608648		autosomal-dominant polycystic liver disease	2004	PMID: 15133510
GPI-anchor pathway
X-linked GPI-anchor deficiency (GPIBD4) Paroxysmal nocturnal hemoglobinuria	PIGA			GlcNAc-PI synthesis protein	300868 300818	311770	dysmorphism, Hy, Sz, variable CNS, cardiac, urinary systems, early death Complement-mediated hemolysis		1993 2012	PMID: 8500164 PMID: 22305531
Autosomal-recessive GPI-anchor deficiency (GPIBD16)	PIGC			GlcNAc-PI synthesis protein	617816	601730	DD/ID, Sz		2016	PMID: 27694521
Autosomal-recessive GPI-anchor deficiency (GPIBD17)	PIGH			GlcNAc-PI synthesis protein	618010	600154	Sz, moderate DD		2018	PMID:29573052 PMID:29603516
Autosomal-recessive GPI-anchor deficiency	PIGQ			GlcNAc-PI synthesis protein	N/A	605754	severe DD, SZ, early death		2014	PMID: 24463883
Autosomal-recessive GPI-anchor deficiency (GPIBD14)	PIGP			GlcNAc-PI synthesis protein	617599	605938	DD, Hy, Sz		2017	PMID: 28334793
Autosomal-recessive GPI-anchor deficiency (GPIBD12)	PIGY			GlcNAc-PI synthesis protein	616809	610662	severe DD, Sz, early death		2015	PMID: 26293662
CHIME syndrome HPMRS (GPIBD5)	PIGL			GlcNAc-PI de-N-acetylase	280000	605947	ID, colobomas, heart defect, early-onset ichthyosiform dermatosis, ear anomalies (conductive hearing loss), HPMRS		2012	PMID: 22444671
West syndrome and HPMRS (GPIBD11)	PIGW			acylates the inositol ring of phosphatidylinositol in GPI-anchor biosynthesis	616025	610275	West syndrome, HPMRS		2013	PMID: 24367057
Autosomal-recessive GPI-anchor deficiency (GPIBD1)	PIGM			first α-mannosyltransferase in GPI biosynthesis	610293	610273	Sz, portal vein thrombosis, portal hypertension		2006	PMID: 16767100
HPMRS (GPIBD2)	PIGV			second α-mannosyltransferase in GPI biosynthesis	239300	610274	HPMRS 1		2010	PMID: 20802478
Autosomal-recessive GPI-anchor deficiency (GPIBD3)	PIGN			GPI ethanolamine phosphate transferase 1	614080	606097	severe neurologic impairment, Sz, lack of development, multiple congenital anomalies, early death		2011	PMID: 21493957
HPMRS (GPIBD6)	PIGO			GPI ethanolamine phosphate transferase 3	614749	614730	HPMRS 2		2012	PMID: 22683086
Autosomal-recessive GPI-anchor deficiency (GPIBD13)	PIGG			GPI ethanolamine phosphate transferase 2	616917	616918	DD/ID, Hy, Sz		2016	PMID: 26996948
Autosomal-recessive GPI-anchor deficiency (GPIBD7) Paroxysmal nocturnal hemoglobinuria	PIGT			GPI transamidase complex	615398 615399	610272	ID, Hy, Sz, abnormal skeletal, endocrine, ophthalmologic abnormalities, hypophosphatasia Complement-mediated hemolysis		2013 2013	PMID: 23636107 PMID: 23733340
Autosomal-recessive GPI-anchor deficiency (GPIBD15)	GPAA1			GPI transamidase complex	617810	603048	DD, Hy, Sz, cerebellar atrophy, osteopenia		2017	PMID: 29100095
Autosomal-recessive GPI-anchor deficiency (GPIBD9)	PGAP1			lipid remodeling steps of GPI-anchor maturation	615802	611655	ID with encephalopathy		2014	PMID: 24784135
HPMRS (GPIBD8)	PGAP2			lipid remodeling steps of GPI-anchor maturation	614207	615187	HPMRS 3		2013	PMID: 23561846 PMID: 23561847
HPMRS (GPIBD10)	PGAP3			lipid remodeling steps of GPI-anchor maturation	615716	611801	HPMRS 4		2014	PMID: 24439110
Dystroglycanopathy
Walker–Warburg syndrome (MDDGA1, B1, C1)	POMT1			O-mannosyltransferase	236670 613155 609308	607423	Walker–Warburg syndrome, brain malformations, various eye malformations, elevated serum CK		2002	PMID: 12369018
Walker–Warburg syndrome (MDDGA2, B2, C2)	POMT2			O-mannosyltransferase	613150 613156 613158	607439	Walker–Warburg syndrome, brain malformations, various eye malformations, elevated serum CK		2005	PMID: 15894594
Muscle–eye–brain disease (MDDGA3, B3, C3)	POMGNT1			O-mannosyl glycan GlcNAc-transferase	253280 613151 613157	606822	ID, severe early-onset muscle weakness, brain malformations, various eye malformations, elevated serum CK		2001	PMID: 11709191
Fukuyama-type congenital muscular dystrophy (MDDGA4, B4, C4)	FKTN			ribitol-5-phosphate transferase	253800 613152 611588	607440	Hy, ID, Sz, generalized muscle weakness, elevated serum CK		1998	PMID: 9690476
Congenital muscular dystrophy type 1C (MDDGA5, B5, C5)	FKRP			fukutin-related protein, ribitol-5-phosphate transferase	613153 606612 607155	606596	Hy, feeding difficulties, hypertrophy of lower limb muscles, wasting of shoulder girdle, variable neurological involvement, elevated serum CK		2001	PMID: 11592034
Congenital muscular dystrophy type 1D (MDDGA6, B6)	LARGE			Xyl and GlcA transferase	613154 608840	603590	ID, white matter changes, elevated serum CK		2003	PMID: 12966029
Walker–Warburg syndrome (MDDGA7)	ISPD			CDP-ribitol synthetase	614643	614631	brain malformations, various eye malformations, elevated serum CK		2012	PMID: 22522420 PMID: 22522421
Walker–Warburg syndrome (MDDGA8)	POMGNT2			β1-4 GlcNAc-transferase	614830	614828	brain malformations, various eye malformations		2012	PMID: 22958903
Walker–Warburg syndrome (MDDGA10)	TMEM5			Xyl-transferase	615041	605862	brain malformations, facial clefts, retinal dysplasia, gonadal dysgenesis.		2012	PMID: 23217329
Congenital muscular dystrophy (MDDGA11)	B3GALNT2			β1-3 GalNAc-transferase 2	615181	610194	I.D, Hy, Sz, brain malformations, various eye malformations, elevated serum CK		2013	PMID: 23453667
Walker–Warburg syndrome (MDDGA12)	POMK			O-Man kinase	615249	615247	Walker–Warburg syndrome, brain and eye malformations, elevated serum CK		2013	PMID: 23929950 PMID: 23519211
Walker–Warburg syndrome (MDDGA13)	B4GAT1			β1-4 glucuronyltransferase	615287	605517	Hy, Sz, brain malformations, retinal dysplasia, elevated serum CK		2013	PMID: 23359570
Congenital muscular dystrophy (MDDGA14, B14, C14)	GMPPB			GDP-Man pyrophosphorylase B	615350 615351 615352	615320	I.D, M, brain and eye malformations, elevated serum CK		2013	PMID: 23768512
Hereditary inclusion body myopathy	GNE			UDP-GlcNAc-2-epimerase/ManAc kinase	600737 605820 269921	603824	proximal and distal muscle weakness, wasting of the upper and lower limbs, sparing of the quadriceps		2001	PMID: 11528398
Glycosaminoglycan
Ehlers–Danlos syndrome	B4GALT7			β1-4 galactosyltransferase 7	130070	604327	progeroid form with DD, short stature, osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, loose but elastic skin		1990	PMID: 2106134
Hereditary multiple exostoses	EXT1/ EXT2			GlcA/GlcNAc-transferase	133700	608177 608210	multiple exostoses of the bone		1995	PMID: 7550340
Schneckenbecken dysplasia	SLC35D1			UDP-GlcA / UDP-GalNAc Golgi transporter	269250	610804	neonatal lethal chondrodysplasia, short-limbed skeletal dysplasia		2007	PMID: 17952091
SED	PAPSS2			3′-phosphoadenosine- 5′-phosphosulphate synthase	612847	603005	short-trunk stature, skeletal dysplasia, normal intelligence, variable epiphyseal and metaphyseal changes		1998	PMID: 9771708
Achondrogenesis type 1B	SLC26A2			sulfate anion transporter	222600 600972 256050	606718	early death in severe cases, adults reported: achondrogenesis Ib, usually stillborn or early death of respiratory failure; atelosteogenesis II, pulmonary hypoplasia, fatal in infants		1996	PMID: 8528239
SED, Omani type	CHST3			chondroitin 6-O-sulfotransferase	143095	603799	skeletal dysplasia, normal intelligence		2004	PMID: 15215498
Macular corneal dystrophy types I/II	CHST6			Keratan Sulphate 6-O-sulfotransferase	217800	605294	corneal clouding and erosions, painful photophobia		2000	PMID: 11017086
Ehlers–Danlos syndrome Adducted thumb-clubfoot syndrome	CHST14			dermatan sulfate GalNAc 4-O sulfotransferase 1	601776	608429	adducted thumb, clubfoot, progressive joint, skin laxity syndrome		2009 2010	PMID: 20004762 PMID: 20533528
Ehlers–Danlos-like syndrome or SED with joint hyperlaxity	B3GALT6			β1-3 galactosyltransferase 6	271640 615349	615291	abnormal skeletal and connective tissues lax skin, muscle hypotonia, joint dislocation, spinal deformity		2013	PMID: 23664117
Larsen-like syndrome	B3GAT3			β1-3 glucuronyltransferase 3	245600	606374	multiple joint dislocations, short stature, craniofacial dysmorphism, congenital heart defects		2011	PMID: 21763480
Autosomal-recessive short stature syndrome	XYLT1			Xyl-transferase 1	615777	608124	moderate ID, short stature, distinct facial features, altered fat distribution		2014	PMID: 23982343
Spondyloocular syndrome with bone fragility, cataracts, and hearing defects	XYLT2			Xyl-transferase 2	605822	608125	osteoporosis, cataracts, sensorineural hearing loss, mild learning defects		2015	PMID: 26027496
Musculocontractural type of Ehlers–Danlos syndrome	DSE			dermatan sulfate epimerase	615539	605942	characteristic facial features, congenital contractures of the thumbs and feet, hypermobility of finger, elbow, and knee joints, muscle weakness		2013	PMID: 23704329
CSGALNACT1 deficiency	CSGALNACT1			chondroitin sulfate N-acetylgalactosaminyltransferase-1	N/A	616615	short stature and joint laxity		2017	PMID: 27599773
EXTL3 deficiency	EXTL3			GlcA/GlcNAc-transferase	617425	605744	ID, skeletal dysplasia, Severe combined immunodeficiency		2017	PMID: 28132690 PMID: 28148688 PMID: 28331220
SLC10A7 deficiency	SLC10A7			Ca²⁺ homeostasis	N/A	611459	Amelogenesis imperfecta and skeletal dysplasia with multiple dislocations		2018	PMID: 30082715 PMID: 29878199
Other
Amish infantile epilepsy		ST3GAL5		Sia2,3Galβ1-4Glc-Cer synthase (GM3)	609056	604402	infantile-onset epilepsy, developmental stagnation, blindness		2004	PMID: 15502825
Salt and pepper syndrome		ST3GAL5		Sia2,3Galβ1-4Glc-Cer synthase (GM3)	609056	604402	severe ID, epilepsy, scoliosis, altered dermal pigmentation, choreoathetosis, dysmorphic facial features		2014	PMID: 24026681
Complex hereditary spastic paraplegia		B4GALNT1		β1-4 GalNAc-transferase 1 (GM2)	609195	601873	early-onset spastic paraplegia, ID, cerebellar ataxia, peripheral neuropathy, cortical atrophy, white matter hyperintensity		2013	PMID: 23746551
Adams–Oliver syndrome 4		EOGT		EGF-domain-specific O-linked O-GlcNAc transferase	615297	614789	aplasia cutis congenita, terminal transverse limb defects		2013	PMID: 23522784
Familial tumoral calcinosis		GALNT3		polypeptide GalNAc-transferase	211900	601756	massive calcium deposits in skin and tissue		2004	PMID: 15133511
Tn syndrome		C1GALT1C1		chaperone of β1-3 GalT	300622	300611	hemolytic anemia with thrombocytopenia, leukopenia		2005	PMID: 16251947
Peters plus syndrome		B3GLCT		β1-3 glucosyltransferase–specific for O-fucose on thrombospondin type 1 repeats	261540	610308	Peters eye anomaly of the anterior chamber, ID, DD, prenatal growth delay, postnatal, typically disproportionately short, cleft lip with or without cleft palate		2006	PMID: 16909395
Dowling–Degos disease 2		POFUT1		protein O-fucosyltransferase 1–specific for particular EGF repeats	615327	607491	skin disorder showing reticulate hyper- and hypopigmentation at flexure regions such as the neck, axilla, and areas below the breasts and groin		2013	PMID: 23684010
Dowling–Degos disease 4		POGLUT1		protein O-glucosyltransferase 1–specific for particular EGF repeats	615696	615618	skin disorder showing reticulate hyper- and hypopigmentation at flexure regions such as the neck, axilla, and areas below the breasts and groin		2014	PMID: 24387993
Autosomal-recessive spondylocostal dysostoses 3		LFNG		lunatic fringe–specific for O-fucose on particular EGF repeats	609813	602576	spondylocostal dysostosis with severe vertebral anomalies.		2006	PMID: 16385447
MRX106		OGT		O-GlcNAc transferase	300997	300255	X-linked intellectual disability.		2017	PMID: 28302723 PMID: 28584052
NANS deficiency		NANS		N-acetylneuraminic acid synthase	610442	605202	infantile-onset severe developmental delay and skeletal dysplasia		2016	PMID: 27213289
TRAPPC11- deficiency		TRAPPC11		Intracellular vesicle trafficking	615356	614138	Muscular dystrophy, limb-girdle or cerebral atrophy, global retardation, scoliosis, achalasia and alacrima.		2017	PMID: 23830518 PMID: 27707803
TRAPPC12- deficiency		TRAPPC12		Intracellular vesicle trafficking	617669	614139	encephalopathy		2017	PMID: 28777934
TRAPPC6B- deficiency		TRAPPC6B		Intracellular vesicle trafficking	617862	610397	microcephaly, epilepsy and autistic features		2017	PMID: 28626029

: CDG, congenital disorders of glycosylation; CMS, congenital myasthenic syndrome; Dol, dolichol; ID, intellectual disability; Sz, seizures; Hy, hypotonia; M, microcephaly; DD, developmental delay; NSID, nonsyndromic intellectual disability; XLNSID, X-linked nonsyndromic intellectual disability; OST, oligosaccharyltransferase; CMP, cytidine monophosphate; ER, endoplasmic reticulum; CCMS, cerebrocostomandibular-like syndrome; CNS, central nervous system; HIES, hyper-IgE syndrome; CLSD, cranio-lenticulo-sutural dysplasia; CDA, congenital dyserythropoietic anemia; HPMRS, hyperphosphatasia with mental retardation syndrome; CK, creatine kinase; SED, spondyloepimetaphyseal dysplasia; EGF, epidermal growth factor; N/A, not available.

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Freeze HH, Schachter H, Kinoshita T. Known Human Glycosylation Disorders. [Updated 2018 Aug 21]. In: Varki A, Cummings RD, Esko JD, et al., editors. Essentials of Glycobiology [Internet]. 3rd edition. Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press; 2015-2017. Online Appendix 45A.