CDG1N
MCID: CNG411
MIFTS: 67

Congenital Disorder of Glycosylation, Type in (CDG1N)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Infectious diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases, Reproductive diseases, Skin diseases
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Aliases & Classifications for Congenital Disorder of Glycosylation, Type in

MalaCards integrated aliases for Congenital Disorder of Glycosylation, Type in:

Name: Congenital Disorder of Glycosylation, Type in 57 12 71
Congenital Disorder of Glycosylation 11 19 58 75 28 5 14
Congenital Disorders of Glycosylation 19 43 71
Cdg in 57 73 5
Cdg1n 57 58 73
Carbohydrate-Deficient Glycoprotein Syndrome 11 53
Congenital Disorder of Glycosylation Type in 58 73
Carbohydrate Deficient Glycoprotein Syndrome 58 75
Congenital Disorder of Glycosylation 1n 11 73
Cdg-in 58 73
Cdgin 57 73
Cdg 19 58
Carbohydrate Deficient Glycoprotein Syndrome Type in 58
Glycosylation, Congenital Disorder of, Type in 38
Carbohydrate-Deficient Glycoprotein Syndromes 19
Congenital Disorder of Glycosylation Type 1n 58
Congenital Disorder of Glycosylation in 11
Man5glcnac2-Pp-Dol Flippase Deficiency 58
Glycosylation, Congenital Disorder of 38
Cdg Syndrome Type in 58
Cdg Syndrome 75
Rft1-Cdg 58

Characteristics:


Inheritance:

Congenital Disorder of Glycosylation, Type in: Autosomal recessive 57
Rft1-Cdg: Autosomal recessive 58
Congenital Disorder of Glycosylation: Autosomal recessive,X-linked recessive 58

Prevelance:

Rft1-Cdg: <1/1000000 (Worldwide) 58
Congenital Disorder of Glycosylation: 1-9/100000 (Europe) 58

Age Of Onset:

Rft1-Cdg: Infancy,Neonatal 58
Congenital Disorder of Glycosylation: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare hepatic diseases
Rare otorhinolaryngological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Congenital Disorder of Glycosylation, Type in

GARD: 19 Congenital disorders of glycosylation (CDG) are a group of inherited metabolic disorders that affect a process called glycosylation. Glycosylation is the complex process by which all human cells build long sugar chains that are attached to proteins, which are called glycoproteins. There are many steps involved in this process, and each step is triggered by a type of protein called an enzyme. Individuals with a CDG are missing one of the enzymes that is required for glycosylation. The type of CDG that a person has depends on which enzyme is missing. Currently, there are 19 identified types of CDG. CDG type IA is the most common form. The symptoms of CDG vary widely among affected individuals. Some people have severe developmental delay, failure to thrive, and multiple organ problems, while others have diarrhea, low blood sugar (hypoglycemia), liver problems, and normal developmental potential.

MalaCards based summary: Congenital Disorder of Glycosylation, Type in, also known as congenital disorder of glycosylation, is related to congenital disorder of glycosylation, type im and congenital disorder of glycosylation, type iim, and has symptoms including ataxia, myoclonus and seizures. An important gene associated with Congenital Disorder of Glycosylation, Type in is RFT1 (RFT1 Homolog), and among its related pathways/superpathways are Metabolism of proteins and Disease. The drugs Sorbitol and Acetazolamide have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and heart, and related phenotypes are seizure and hypotonia

Orphanet 58 Congenital disorder of glycosylation: A fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). This group is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.

Rft1-cdg: RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).

OMIM®: 57 Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. Type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin (Leroy, 2006). For a discussion of the classification of CDGs, see CDG1A (212065). (612015) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

Disease Ontology 11 Congenital disorder of glycosylation in: A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has material basis in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21.

Congenital disorder of glycosylation: A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids.

Wikipedia: 75 A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome)... more...

Related Diseases for Congenital Disorder of Glycosylation, Type in

Diseases in the Disorder of Multiple Glycosylation family:

Congenital Disorder of Glycosylation, Type Ia Congenital Disorder of Glycosylation, Type Iia
Congenital Disorder of Glycosylation, Type I/iix Congenital Disorder of Glycosylation, Type Iic
Congenital Disorder of Glycosylation, Type Iim Congenital Disorder of Glycosylation, Type Iy
Congenital Disorder of Glycosylation, Type Iir Congenital Disorder of Glycosylation, Type Id
Congenital Disorder of Glycosylation, Type Ib Congenital Disorder of Glycosylation, Type Ic
Congenital Disorder of Glycosylation, Type Iif Congenital Disorder of Glycosylation, Type Iib
Congenital Disorder of Glycosylation, Type Iid Congenital Disorder of Glycosylation, Type Ig
Congenital Disorder of Glycosylation, Type Ij Congenital Disorder of Glycosylation, Type Ih
Congenital Disorder of Glycosylation, Type Ik Congenital Disorder of Glycosylation, Type Il
Congenital Disorder of Glycosylation, Type if Congenital Disorder of Glycosylation, Type Im
Congenital Disorder of Glycosylation, Type Iih Congenital Disorder of Glycosylation, Type Iig
Congenital Disorder of Glycosylation, Type in Congenital Disorder of Glycosylation, Type Iq
Congenital Disorder of Glycosylation, Type Iij Congenital Disorder of Glycosylation, Type Iii
Congenital Disorder of Glycosylation, Type Ip Congenital Disorder of Glycosylation, Type Ir
Congenital Disorder of Glycosylation, Type Iil Congenital Disorder of Glycosylation, Type Iik
Congenital Disorder of Glycosylation, Type It Congenital Disorder of Glycosylation, Type Iu
Congenital Disorder of Glycosylation, Type Iw, Autosomal Recessive Congenital Disorder of Glycosylation, Type Ix
Congenital Disorder of Glycosylation, Type Iin Congenital Disorder of Glycosylation, Type Iio
Congenital Disorder of Glycosylation, Type Iip Congenital Disorder of Glycosylation, Type Iiq
Congenital Disorder of Glycosylation, Type Iit Congenital Disorder of Glycosylation, Type 2v
Congenital Disorder of Glycosylation, Type Iiw Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant
Congenital Disorder of Glycosylation Iw

Diseases related to Congenital Disorder of Glycosylation, Type in via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 508)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type im 33.7 SRD5A3 DPAGT1 ALG6
2 congenital disorder of glycosylation, type iim 33.6 SRD5A3 ALG6
3 congenital disorder of glycosylation, type iip 33.6 PGM1 ALG6 ALG13 ALG1
4 congenital disorder of glycosylation, type iii 33.6 SRD5A3 PMM2 DPM2 ALG6 ALG1
5 congenital disorder of glycosylation, type iin 33.6 TMEM165 PMM2 PGM1 MPI ALG6 ALG13
6 congenital disorder of glycosylation, type iio 33.5 MPI ALG6 ALG13 ALG1
7 immunodeficiency 23 33.5 TMEM165 MPI ALG6 ALG13 ALG1
8 congenital disorder of glycosylation, type ik 33.5 EEF2KMT ALG1
9 congenital disorder of glycosylation, type iik 33.5 TMEM165 PMM2 PGM1 ALG6 ALG13
10 congenital disorder of glycosylation, type iif 33.5 MPI ALG6 ALG1
11 congenital disorder of glycosylation, type iid 33.4 PMM2 MPI
12 alg1-congenital disorder of glycosylation 33.4 EEF2KMT ALG1
13 srd5a3-congenital disorder of glycosylation 33.3 SRD5A3-AS1 SRD5A3
14 ngly1-deficiency 32.8 SRD5A3 PMM2 ALG13 ALG1
15 walker-warburg syndrome 31.0 SRD5A3 PMM2 MPI DPM2 DPAGT1 ALG6
16 developmental and epileptic encephalopathy 36 31.0 SRD5A3 PMM2 NUS1 DPAGT1 ALG6 ALG13
17 congenital disorder of glycosylation, type ia 30.8 PMM2 MPI ALG6
18 hyperinsulinemic hypoglycemia 30.8 PMM2 PGM1 MPI
19 fructose intolerance, hereditary 30.7 MPI ALG6 ALG1
20 protein-losing enteropathy 30.7 SRD5A3 PMM2 MPI ALG6
21 immunodeficiency 47 30.6 TMEM165 SSR4 SRD5A3 PMM2 PGM1 MPI
22 schneckenbecken dysplasia 30.5 TMEM165 ALG6
23 congenital disorder of glycosylation, type iia 30.4 PMM2 MPI ALG1
24 congenital disorder of glycosylation, type iq 30.3 SRD5A3-AS1 SRD5A3
25 congenital disorder of glycosylation, type ic 30.3 PMM2 ALG6
26 myasthenic syndrome, congenital, 15 30.3 DPAGT1 ALG13 ALG1
27 congenital myasthenic syndrome 30.2 DPAGT1 ALG13 ALG1
28 granulomatous disease, chronic, autosomal recessive, 2 30.1 PMM2 DDOST
29 congenital disorder of glycosylation, type ig 12.0
30 congenital disorder of glycosylation, type ib 11.9
31 congenital disorder of glycosylation, type iiq 11.9
32 congenital disorder of glycosylation, type iy 11.9
33 congenital disorder of glycosylation, type ip 11.9
34 congenital disorder of glycosylation, type ir 11.9
35 congenital disorder of glycosylation, type iic 11.9
36 congenital disorder of glycosylation, type iu 11.9
37 congenital disorder of glycosylation, type id 11.9
38 congenital disorder of glycosylation, type ij 11.9
39 congenital disorder of glycosylation, type ih 11.8
40 congenital disorder of glycosylation, type if 11.8
41 congenital disorder of glycosylation, type iil 11.8
42 congenital disorder of glycosylation, type ix 11.8
43 congenital disorder of glycosylation, type iih 11.8
44 congenital disorder of glycosylation, type iig 11.8
45 congenital disorder of glycosylation, type iij 11.8
46 cog5-congenital disorder of glycosylation 11.8
47 congenital disorder of glycosylation, type il 11.8
48 congenital disorder of glycosylation, type iaa 11.8
49 congenital disorder of glycosylation, type iib 11.8
50 congenital disorder of glycosylation, type icc 11.8

Graphical network of the top 20 diseases related to Congenital Disorder of Glycosylation, Type in:



Diseases related to Congenital Disorder of Glycosylation, Type in

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type in

Human phenotypes related to Congenital Disorder of Glycosylation, Type in:

58 30 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizure 58 30 Obligate (100%) Obligate (100%)
HP:0001250
2 hypotonia 58 30 Obligate (100%) Obligate (100%)
HP:0001252
3 global developmental delay 58 30 Obligate (100%) Obligate (100%)
HP:0001263
4 hearing impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000365
5 arthrogryposis multiplex congenita 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002804
6 failure to thrive 58 30 Frequent (33%) Frequent (79-30%)
HP:0001508
7 hepatomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0002240
8 microcephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000252
9 visual impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000505
10 short stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0004322
11 inverted nipples 58 30 Frequent (33%) Frequent (79-30%)
HP:0003186
12 abnormal bleeding 58 30 Frequent (33%) Frequent (79-30%)
HP:0001892
13 abnormality of coagulation 58 30 Frequent (33%) Frequent (79-30%)
HP:0001928
14 feeding difficulties 58 30 Frequent (33%) Frequent (79-30%)
HP:0011968
15 abnormal thrombosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001977
16 ataxia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001251
17 cerebral cortical atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002120
18 stroke-like episode 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002401
19 bilateral basal ganglia lesions 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007146
20 hyperintensity of cerebral white matter on mri 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030890
21 abnormal posterior cranial fossa morphology 30 Occasional (7.5%) HP:0000932
22 spasticity 30 HP:0001257
23 hyperreflexia 30 HP:0001347
24 short neck 30 HP:0000470
25 respiratory insufficiency 30 HP:0002093
26 sensorineural hearing impairment 30 HP:0000407
27 intellectual disability, severe 30 HP:0010864
28 myoclonus 30 HP:0001336
29 micrognathia 30 HP:0000347
30 reduced visual acuity 30 HP:0007663
31 adducted thumb 30 HP:0001181
32 cerebral atrophy 58 Occasional (29-5%)
33 generalized hypotonia 30 HP:0001290
34 abnormality of the coagulation cascade 30 HP:0003256
35 abnormality of the posterior cranial fossa 58 Occasional (29-5%)
36 pes valgus 30 HP:0008081
37 abnormal isoelectric focusing of serum transferrin 30 HP:0003160

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
spasticity
hyperreflexia
ataxia
myoclonus
seizures
more
Head And Neck Neck:
short neck

Respiratory:
respiratory insufficiency

Growth Height:
short stature

Chest Breasts:
inverted nipples

Head And Neck Ears:
sensorineural deafness

Head And Neck Eyes:
decreased visual acuity
lack of eye contact

Skeletal Feet:
valgus foot deformity

Laboratory Abnormalities:
type i pattern of serum sialotransferrins
accumulation of the incomplete oligosaccharide man(5)glcnac(2)-pp-dolichol

Growth Other:
failure to thrive

Muscle Soft Tissue:
hypotonia

Head And Neck Head:
microcephaly

Head And Neck Face:
micrognathia

Abdomen Gastrointestinal:
feeding difficulties

Skeletal Hands:
adducted thumbs

Abdomen Liver:
hepatomegaly (in some patients)

Hematology:
coagulopathy (in some patients)

Clinical features from OMIM®:

612015 (Updated 08-Dec-2022)

UMLS symptoms related to Congenital Disorder of Glycosylation, Type in:


ataxia; myoclonus; seizures; muscle spasticity

GenomeRNAi Phenotypes related to Congenital Disorder of Glycosylation, Type in according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.15 ALG1 ALG13 ALG6 DDOST DPAGT1 DPM2
2 no effect GR00402-S-2 10.15 ALG1 ALG13 ALG6 DDOST DPAGT1 DPM2
3 Decreased shRNA abundance GR00297-A 9.35 ALG1 DPM2 MPI PMM2 SRD5A3

MGI Mouse Phenotypes related to Congenital Disorder of Glycosylation, Type in:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.97 ALG13 ALG6 DDOST DPM2 MAGT1 MPI
2 embryo MP:0005380 9.65 ALG13 ALG6 DPAGT1 MPI NUS1 PGM1
3 mortality/aging MP:0010768 9.5 ALG1 ALG13 ALG6 DDOST DPAGT1 DPM2

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type in

Drugs for Congenital Disorder of Glycosylation, Type in (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sorbitol Approved, Investigational Phase 3 69-65-8, 50-70-4 453 6251 5780
2
Acetazolamide Approved, Vet_approved Phase 2, Phase 3 59-66-5, 1424-27-7 1986
3
Epalrestat Investigational Phase 3 82159-09-9 1549120
4 Carbonic Anhydrase Inhibitors Phase 2, Phase 3
5 Anticonvulsants Phase 2, Phase 3
6 diuretics Phase 2, Phase 3
7 Ophthalmic Solutions Phase 1
8
Thrombin Approved, Investigational
9
Protein C Approved
10 Antithrombins
11 Antithrombin III
12 Fibrin fragment D
13
Thromboplastin
14 Hemostatics
15 Protein S

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 A Prospective, Randomized, Double-Blind, Placebo-Controlled, Single-Center Study of Oral Epalrestat Therapy in Pediatric Subjects With Phosphomannomutase 2-congenital Disorder of Glycosylation (PMM2-CDG) Recruiting NCT04925960 Phase 3 Epalrestat;Placebo
2 A Randomized, Double-blind, Placebo-controlled Study Evaluating Acetazolamide Efficacy in Ataxia in PMM2-CDG Active, not recruiting NCT04679389 Phase 2, Phase 3 Placebo;Acetazolamide
3 Evaluate Efficacy and Safety of D-galactose Supplementation in SLC35A2-CDG Not yet recruiting NCT05402384 Phase 2, Phase 3 AVTX-801;Placebo
4 A Phase 2, Randomized, Open-Label, 12-Week Study to Assess the Pharmacodynamics, Safety, Tolerability, and Pharmacokinetics of Multiple Doses of GLM101 Administered Intravenously to Adult Participants With PMM2-CDG Not yet recruiting NCT05549219 Phase 2 GLM101
5 Evaluate Optimal Dosing and Long-term Safety of D-galactose in PGM1-CDG Not yet recruiting NCT05402332 Phase 1 AVTX-801
6 Evaluate the Effect of Oral GlcNAc Supplementation in Patients With NGLY1 Deficiency Not yet recruiting NCT05402345 Phase 1 GlcNAc-GlcN
7 "Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects" (CARDIoG) Unknown status NCT02503267
8 Evaluation of Global Coagulation Balance of 57 Patients With Congenital Disorder of Glycosylation Using the Thrombin Generation Assay Completed NCT03560570
9 Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation Completed NCT02955264
10 Role of the Endothelium in Stroke-like Episode Among CDG Patients Completed NCT03250728
11 Dietary Monosaccharide Supplementation in Patients With Congenital Disorders of Glycosylation Recruiting NCT04198987
12 Galactose Supplementation for the Treatment of Patients With Mild Malformation of Cortical Development With Oligodendroglial Hyperplasia in Epilepsy (MOGHE): a Pilot Trial Recruiting NCT04833322
13 Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation Recruiting NCT02089789
14 Clinical and Basic Investigations Into Congenital Disorders of Glycosylation Recruiting NCT04199000
15 Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism Enrolling by invitation NCT04201067

Search NIH Clinical Center for Congenital Disorder of Glycosylation, Type in

Cochrane evidence based reviews: congenital disorders of glycosylation

Genetic Tests for Congenital Disorder of Glycosylation, Type in

Genetic tests related to Congenital Disorder of Glycosylation, Type in:

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation 28 ALG13 DDOST DPM2 MAGT1 PGM1 SSR4 TMEM165 TUSC3

Anatomical Context for Congenital Disorder of Glycosylation, Type in

Organs/tissues related to Congenital Disorder of Glycosylation, Type in:

MalaCards : Liver, Eye, Heart, Brain, Cerebellum, Kidney, Skin
ODiseA: Brain

Publications for Congenital Disorder of Glycosylation, Type in

Articles related to Congenital Disorder of Glycosylation, Type in:

(show top 50) (show all 1432)
# Title Authors PMID Year
1
RFT1-CDG in adult siblings with novel mutations. 62 57 5
23111317 2012
2
RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation. 62 57 5
19856127 2009
3
RFT1 deficiency in three novel CDG patients. 62 57 5
19701946 2009
4
Human RFT1 deficiency leads to a disorder of N-linked glycosylation. 62 57 5
18313027 2008
5
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction. 62 5
33964207 2021
6
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. 62 5
32681751 2020
7
Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation. 62 5
30945312 2019
8
DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients. 62 5
30117111 2019
9
Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs. 62 5
28940310 2018
10
SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. 62 5
27480077 2016
11
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy. 62 5
27172925 2016
12
Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation. 62 5
27325525 2016
13
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. 62 5
26931382 2016
14
RFT1-congenital disorder of glycosylation (CDG) syndrome: a cause of early-onset severe epilepsy. 62 5
26892341 2016
15
Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. 62 5
14709599 2004
16
Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I. 62 5
14973782 2004
17
Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik. 62 5
14973778 2004
18
Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1. 62 57
10801058 2000
19
Isoforms and levels of transferrin, antithrombin, alpha(1)-antitrypsin and thyroxine-binding globulin in 48 patients with carbohydrate-deficient glycoprotein syndrome type I. 62 57
9516657 1998
20
Genomic diagnosis for children with intellectual disability and/or developmental delay. 5
28554332 2017
21
Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Answers. 5
25956699 2016
22
Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects. 57
17065563 2006
23
The analysis of carbohydrate-deficient transferrin, marker of chronic alcoholism, using capillary electrophoresis. 53 62
12880136 2003
24
Denaturing high-performance liquid chromatography is a suitable method for PMM2 mutation screening in carbohydrate-deficient glycoprotein syndrome type IA patients. 53 62
11142762 2000
25
[Carbohydrate-deficient glycoprotein syndrome (CDGS) type Ib. A hereditary metabolic disease and its therapy]. 53 62
10783607 2000
26
Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli. 53 62
10602363 1999
27
Screening for "prelysosomal disorders": carbohydrate-deficient glycoprotein syndromes. 53 62
10593562 1999
28
Haptoglobin glycoforms in a case of carbohydrate-deficient glycoprotein syndrome. 53 62
10972135 1999
29
The sugar moiety of Tamm-Horsfall protein is affected by the carbohydrate-deficient glycoprotein type I syndrome. A case study. 53 62
10815984 1999
30
Microheterogeneity of serum glycoproteins in patients with chronic alcohol abuse compared with carbohydrate-deficient glycoprotein syndrome type I. 53 62
10471642 1999
31
A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic. 53 62
10359825 1999
32
Oligosaccharides released by hydrazinolysis from Tamm-Horsfall protein of various human donors contain similar high-mannose glycans. 53 62
10340432 1999
33
Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes. 53 62
10085245 1999
34
Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1. 53 62
10066032 1999
35
Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1. 53 62
9781039 1998
36
Prenatal diagnosis of the carbohydrate-deficient glycoprotein syndrome type 1A (CDG1A) by a combination of enzymology and genetic linkage analysis after amniocentesis or chorionic villus sampling. 53 62
9706650 1998
37
Anion-exchange chromatography versus isoelectric focusing of transferrin in diagnosing the carbohydrate-deficient glycoprotein syndrome. 53 62
9700614 1998
38
Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy. 53 62
9525984 1998
39
Prenatal diagnosis in CDG1 families: beware of heterogeneity. 53 62
9781052 1998
40
Hypoglycosylation of a brain glycoprotein (beta-trace protein) in CDG syndromes due to phosphomannomutase deficiency and N-acetylglucosaminyl-transferase II deficiency. 53 62
9455908 1997
41
Immunoglobulin levels in patients with carbohydrate-deficient glycoprotein syndrome type I. 53 62
9338604 1997
42
Capillary electrophoresis-based separation of transferrin sialoforms in patients with carbohydrate-deficient glycoprotein syndrome. 53 62
9372275 1997
43
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). 53 62
9140401 1997
44
Apolipoprotein J deficiency in types I and IV carbohydrate-deficient glycoprotein syndrome (glycanosis CDG) 53 62
9083771 1997
45
PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13. 53 62
9070917 1997
46
The identification of abnormal glycoforms of serum transferrin in carbohydrate deficient glycoprotein syndrome type I by capillary zone electrophoresis. 53 62
8981095 1996
47
Diagnostic value of Western blotting in carbohydrate-deficient glycoprotein syndrome. 53 62
8896901 1996
48
[Applications of mass spectrometry for clinical laboratory test]. 53 62
7884970 1995
49
Diagnosis of the carbohydrate-deficient glycoprotein syndrome by analysis of transferrin in filter paper blood spots. 53 62
8453223 1993
50
Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome. 53 62
1472054 1992

Variations for Congenital Disorder of Glycosylation, Type in

ClinVar genetic disease variations for Congenital Disorder of Glycosylation, Type in:

5 (show top 50) (show all 795)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MAGT1 NM_001367916.1(MAGT1):c.972A>C (p.Lys324Asn) SNV Pathogenic
625836 rs373260156 GRCh37: X:77086322-77086322
GRCh38: X:77830825-77830825
2 MAGT1 NM_001367916.1(MAGT1):c.895C>T (p.Arg299Ter) SNV Pathogenic
625837 rs1569547876 GRCh37: X:77096749-77096749
GRCh38: X:77841252-77841252
3 RFT1 NM_052859.4(RFT1):c.892G>A (p.Glu298Lys) SNV Pathogenic
207987 rs796053521 GRCh37: 3:53139754-53139754
GRCh38: 3:53105738-53105738
4 RFT1 NM_052859.4(RFT1):c.887T>A (p.Ile296Lys) SNV Pathogenic
207988 rs772820136 GRCh37: 3:53139759-53139759
GRCh38: 3:53105743-53105743
5 RFT1 NM_052859.4(RFT1):c.887T>G (p.Ile296Arg) SNV Pathogenic
207989 rs772820136 GRCh37: 3:53139759-53139759
GRCh38: 3:53105743-53105743
6 RFT1 NM_052859.4(RFT1):c.1222A>G (p.Met408Val) SNV Pathogenic
207990 rs796053522 GRCh37: 3:53126621-53126621
GRCh38: 3:53092605-53092605
7 RFT1 NM_052859.4(RFT1):c.1325G>A (p.Arg442Gln) SNV Pathogenic
207991 rs749968109 GRCh37: 3:53126518-53126518
GRCh38: 3:53092502-53092502
8 RFT1 NM_052859.4(RFT1):c.199C>T (p.Arg67Cys) SNV Pathogenic
785 rs118203913 GRCh37: 3:53157807-53157807
GRCh38: 3:53123791-53123791
9 RFT1 NM_052859.4(RFT1):c.775G>A (p.Gly259Ser) SNV Pathogenic
807671 rs1575494302 GRCh37: 3:53145846-53145846
GRCh38: 3:53111830-53111830
10 NUS1 NM_138459.5(NUS1):c.869G>A (p.Arg290His) SNV Pathogenic
253197 rs886037858 GRCh37: 6:118028165-118028165
GRCh38: 6:117707002-117707002
11 ALG1 NM_019109.5(ALG1):c.1187+3A>G SNV Pathogenic
224118 rs369160589 GRCh37: 16:5132677-5132677
GRCh38: 16:5082676-5082676
12 ALG1 NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) SNV Pathogenic
4724 rs28939378 GRCh37: 16:5128790-5128790
GRCh38: 16:5078789-5078789
13 PMM2 NM_000303.3(PMM2):c.422G>A (p.Arg141His) SNV Pathogenic
7706 rs28936415 GRCh37: 16:8905010-8905010
GRCh38: 16:8811153-8811153
14 RFT1 NM_052859.4(RFT1):c.454A>G (p.Lys152Glu) SNV Pathogenic/Likely Pathogenic
207986 rs763862849 GRCh37: 3:53156392-53156392
GRCh38: 3:53122376-53122376
15 ALG13 NM_001099922.3(ALG13):c.50T>A (p.Ile17Asn) SNV Likely Pathogenic
598969 rs1569508922 GRCh37: X:110924496-110924496
GRCh38: X:111681268-111681268
16 SRD5A3-AS1, SRD5A3 NM_024592.5(SRD5A3):c.603G>A (p.Trp201Ter) SNV Likely Pathogenic
197351 rs765191836 GRCh37: 4:56233795-56233795
GRCh38: 4:55367628-55367628
17 SRD5A3 NM_024592.5(SRD5A3):c.562+3del DEL Likely Pathogenic
424415 rs752307253 GRCh37: 4:56230441-56230441
GRCh38: 4:55364274-55364274
18 ALG1 NM_019109.5(ALG1):c.866A>G (p.Asp289Gly) SNV Likely Pathogenic
690314 rs1180515976 GRCh37: 16:5129068-5129068
GRCh38: 16:5079067-5079067
19 ALG1, EEF2KMT NM_019109.5(ALG1):c.1312C>T (p.Arg438Trp) SNV Likely Pathogenic
690315 rs16835020 GRCh37: 16:5134799-5134799
GRCh38: 16:5084798-5084798
20 ALG1 NM_019109.5(ALG1):c.841G>T (p.Val281Phe) SNV Likely Pathogenic
690317 rs553396382 GRCh37: 16:5128858-5128858
GRCh38: 16:5078857-5078857
21 ALG1 NM_019109.5(ALG1):c.212C>T (p.Ser71Phe) SNV Likely Pathogenic
690319 rs200605408 GRCh37: 16:5122955-5122955
GRCh38: 16:5072954-5072954
22 ALG1 NM_019109.5(ALG1):c.221A>T (p.His74Leu) SNV Likely Pathogenic
690320 rs201337379 GRCh37: 16:5122964-5122964
GRCh38: 16:5072963-5072963
23 ALG1 NM_019109.5(ALG1):c.262T>G (p.Leu88Val) SNV Likely Pathogenic
195352 rs794727301 GRCh37: 16:5123005-5123005
GRCh38: 16:5073004-5073004
24 ALG1 NM_019109.5(ALG1):c.872A>T (p.Asp291Val) SNV Likely Pathogenic
690323 rs192564717 GRCh37: 16:5129074-5129074
GRCh38: 16:5079073-5079073
25 ALG1 NM_019109.5(ALG1):c.1097T>A (p.Leu366Gln) SNV Likely Pathogenic
690325 rs1596261208 GRCh37: 16:5132584-5132584
GRCh38: 16:5082583-5082583
26 ALG1 NM_019109.5(ALG1):c.450C>A (p.Ser150Arg) SNV Likely Pathogenic
690326 rs121908340 GRCh37: 16:5125448-5125448
GRCh38: 16:5075447-5075447
27 ALG1 NM_019109.5(ALG1):c.961+1G>C SNV Likely Pathogenic
690329 rs373355236 GRCh37: 16:5129809-5129809
GRCh38: 16:5079808-5079808
28 ALG1 NM_019109.5(ALG1):c.1057T>G (p.Tyr353Asp) SNV Likely Pathogenic
690330 rs1596259672 GRCh37: 16:5131042-5131042
GRCh38: 16:5081041-5081041
29 ALG1 NM_019109.5(ALG1):c.1250_1251insTG (p.Ala418fs) INSERT Likely Pathogenic
424339 rs746019074 GRCh37: 16:5133745-5133746
GRCh38: 16:5083744-5083745
30 ALG1 NM_019109.5(ALG1):c.1150G>A (p.Gly384Arg) SNV Likely Pathogenic
690331 rs1057520122 GRCh37: 16:5132637-5132637
GRCh38: 16:5082636-5082636
31 ALG1 NM_019109.5(ALG1):c.826C>T (p.Arg276Trp) SNV Likely Pathogenic
30539 rs151173406 GRCh37: 16:5128843-5128843
GRCh38: 16:5078842-5078842
32 RFT1 NM_052859.4(RFT1):c.902A>G (p.Tyr301Cys) SNV Likely Pathogenic
495320 rs913477149 GRCh37: 3:53139744-53139744
GRCh38: 3:53105728-53105728
33 RFT1 NM_052859.4(RFT1):c.740dup (p.Lys248fs) DUP Likely Pathogenic
931309 rs1701662808 GRCh37: 3:53145880-53145881
GRCh38: 3:53111864-53111865
34 DPAGT1 NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys) SNV Likely Pathogenic
12296 rs28934876 GRCh37: 11:118971106-118971106
GRCh38: 11:119100396-119100396
35 DPAGT1 NM_001382.4(DPAGT1):c.26dup (p.Met9fs) DUP Likely Pathogenic
567578 rs768656482 GRCh37: 11:118972339-118972340
GRCh38: 11:119101629-119101630
36 DPAGT1 NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp) SNV Likely Pathogenic
521719 rs772988029 GRCh37: 11:118968743-118968743
GRCh38: 11:119098033-119098033
37 DPAGT1 NM_001382.4(DPAGT1):c.380_395dup (p.Ser133fs) DUP Likely Pathogenic
521720 rs1185483085 GRCh37: 11:118971440-118971441
GRCh38: 11:119100730-119100731
38 DPAGT1 NM_001382.4(DPAGT1):c.488T>C (p.Leu163Pro) SNV Likely Pathogenic
996693 rs772211450 GRCh37: 11:118971348-118971348
GRCh38: 11:119100638-119100638
39 DPAGT1 NM_001382.4(DPAGT1):c.341C>G (p.Ala114Gly) SNV Likely Pathogenic
65469 rs397515327 GRCh37: 11:118971495-118971495
GRCh38: 11:119100785-119100785
40 DPAGT1 NM_001382.4(DPAGT1):c.584C>G (p.Ala195Gly) SNV Likely Pathogenic
218096 rs863225088 GRCh37: 11:118971031-118971031
GRCh38: 11:119100321-119100321
41 SLC37A4 NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter) SNV Likely Pathogenic
1184845 GRCh37: 11:118895643-118895643
GRCh38: 11:119024933-119024933
42 ALG13 NM_001099922.3(ALG13):c.2915G>T (p.Gly972Val) SNV Likely Pathogenic
1184823 GRCh37: X:110988115-110988115
GRCh38: X:111744887-111744887
43 SSR3 NM_007107.5(SSR3):c.278_281del (p.Glu93fs) DEL Likely Pathogenic
982233 rs1719856599 GRCh37: 3:156266772-156266775
GRCh38: 3:156548983-156548986
44 DPAGT1 NM_001382.4(DPAGT1):c.1197T>A (p.Tyr399Ter) SNV Likely Pathogenic
996651 rs1946406410 GRCh37: 11:118967738-118967738
GRCh38: 11:119097028-119097028
45 DPAGT1 NM_001382.4(DPAGT1):c.419A>G (p.Tyr140Cys) SNV Likely Pathogenic
996692 rs777142166 GRCh37: 11:118971417-118971417
GRCh38: 11:119100707-119100707
46 DPAGT1 NM_001382.4(DPAGT1):c.2T>C (p.Met1Thr) SNV Likely Pathogenic
996710 rs1946512581 GRCh37: 11:118972364-118972364
GRCh38: 11:119101654-119101654
47 DPAGT1 NM_001382.4(DPAGT1):c.1117C>G (p.Pro373Ala) SNV Likely Pathogenic
996712 rs1210999092 GRCh37: 11:118967896-118967896
GRCh38: 11:119097186-119097186
48 DPAGT1 NM_001382.4(DPAGT1):c.116_117delinsAA (p.Ala39Glu) INDEL Likely Pathogenic
996713 rs1946508324 GRCh37: 11:118972249-118972250
GRCh38: 11:119101539-119101540
49 ALG13 NM_001099922.3(ALG13):c.204AGA[1] (p.Glu69del) MICROSAT Likely Pathogenic
1184824 GRCh37: X:110925481-110925483
GRCh38: X:111682253-111682255
50 SRD5A3-AS1, SRD5A3 NM_024592.5(SRD5A3):c.921G>C (p.Pro307=) SNV Likely Pathogenic
690313 rs763516132 GRCh37: 4:56236222-56236222
GRCh38: 4:55370055-55370055

UniProtKB/Swiss-Prot genetic disease variations for Congenital Disorder of Glycosylation, Type in:

73
# Symbol AA change Variation ID SNP ID
1 RFT1 p.Arg67Cys VAR_044334 rs118203913
2 RFT1 p.Lys152Glu VAR_062572 rs763862849
3 RFT1 p.Glu298Lys VAR_062573 rs796053521

Expression for Congenital Disorder of Glycosylation, Type in

Search GEO for disease gene expression data for Congenital Disorder of Glycosylation, Type in.

Pathways for Congenital Disorder of Glycosylation, Type in



Pathways directly related to Congenital Disorder of Glycosylation, Type in:

# Pathway Source
1 Diseases of glycosylation Reactome 66
2 Diseases associated with glycosylation precursor biosynthesis Reactome 66
3 Diseases associated with O-glycosylation of proteins Reactome 66
4 Diseases associated with glycosaminoglycan metabolism Reactome 66
5 Diseases associated with N-glycosylation of proteins Reactome 66
6 Defective PGM1 causes PGM1-CDG Reactome 66

Pathways related to Congenital Disorder of Glycosylation, Type in according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.8 TUSC3 SSR4 SSR3 SRD5A3 RFT1 PMM2
2
Show member pathways
13.63 ALG1 ALG13 ALG6 DDOST DPAGT1 DPM2
3
Show member pathways
12.95 ALG1 ALG13 ALG6 DDOST DPAGT1 DPM2
4
Show member pathways
12.17 ALG1 ALG13 ALG6 DPAGT1 DPM2 MPI
5
Show member pathways
12.05 SRD5A3 SLC37A4 RFT1 PMM2 PGM1 NUS1
7 10.82 TUSC3 MAGT1

GO Terms for Congenital Disorder of Glycosylation, Type in

Cellular components related to Congenital Disorder of Glycosylation, Type in according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.49 ALG1 ALG6 DDOST DPAGT1 DPM2 MAGT1
2 membrane GO:0016021 10.49 ALG1 ALG6 DDOST DPAGT1 DPM2 MAGT1
3 endoplasmic reticulum GO:0005783 9.93 ALG1 ALG13 ALG6 DDOST DPAGT1 DPM2
4 endoplasmic reticulum membrane GO:0005789 9.75 TUSC3 SSR4 SSR3 SRD5A3 SLC37A4 RFT1
5 oligosaccharyltransferase complex GO:0008250 9.63 TUSC3 MAGT1 DDOST

Biological processes related to Congenital Disorder of Glycosylation, Type in according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein N-linked glycosylation GO:0006487 10 ALG6 DDOST DPAGT1 MAGT1 PMM2 TMEM165
2 protein N-linked glycosylation via asparagine GO:0018279 9.85 DDOST MAGT1 TUSC3
3 magnesium ion transmembrane transport GO:1903830 9.78 TUSC3 MAGT1
4 magnesium ion transport GO:0015693 9.76 TUSC3 MAGT1
5 dolichyl diphosphate biosynthetic process GO:0006489 9.73 SRD5A3 NUS1
6 dolichol metabolic process GO:0019348 9.73 SRD5A3 DPM2 DPAGT1
7 GDP-mannose biosynthetic process GO:0009298 9.71 PMM2 MPI
8 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.7 SRD5A3 RFT1 DPAGT1 ALG6 ALG13 ALG1
9 dolichol biosynthetic process GO:0019408 9.62 SRD5A3 NUS1
10 organic substance metabolic process GO:0071704 9.49 SRD5A3 PGM1
11 protein glycosylation GO:0006486 9.47 TUSC3 SRD5A3 PMM2 NUS1 MAGT1 DPM2

Molecular functions related to Congenital Disorder of Glycosylation, Type in according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 magnesium ion transmembrane transporter activity GO:0015095 9.46 TUSC3 MAGT1
2 hexosyltransferase activity GO:0016758 9.26 ALG6 ALG13
3 isomerase activity GO:0016853 9.13 PMM2 PGM1 MPI
4 glycosyltransferase activity GO:0016757 9.02 DPAGT1 ALG6 ALG13 ALG1

Sources for Congenital Disorder of Glycosylation, Type in

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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