CDG1N
MCID: CNG411
MIFTS: 66

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, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

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 13 70
Congenital Disorder of Glycosylation 12 73 20 58 29 6 15
Congenital Disorder of Glycosylation Type 1n 58 29 6
Congenital Disorders of Glycosylation 20 44 70
Cdg1n 57 58 72
Carbohydrate-Deficient Glycoprotein Syndrome 12 54
Carbohydrate Deficient Glycoprotein Syndrome 73 58
Congenital Disorder of Glycosylation Type in 58 72
Congenital Disorder of Glycosylation 1n 12 72
Cdg in 57 72
Cdg-in 58 72
Cdgin 57 72
Cdg 20 58
Carbohydrate Deficient Glycoprotein Syndrome Type in 58
Glycosylation, Congenital Disorder of, Type in 39
Carbohydrate-Deficient Glycoprotein Syndromes 20
Congenital Disorder of Glycosylation in 12
Man5glcnac2-Pp-Dol Flippase Deficiency 58
Glycosylation, Congenital Disorder of 39
Cdg Syndrome Type in 58
Cdg in; Cdgin 57
Cdg Syndrome 73
Rft1-Cdg 58

Characteristics:

Orphanet epidemiological data:

58
rft1-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
congenital disorder of glycosylation
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

31
congenital disorder of glycosylation, type in:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


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 : 20 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 ie and congenital disorder of glycosylation, type iii, and has symptoms including seizures, ataxia and myoclonus. An important gene associated with Congenital Disorder of Glycosylation, Type in is RFT1 (RFT1 Homolog), and among its related pathways/superpathways are Metabolism and Metabolism of proteins. The drugs Acetazolamide and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and cerebellum, and related phenotypes are global developmental delay and seizure

Disease Ontology : 12 A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids.

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 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Congenital disorder of glycosylation 1N: 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.

Wikipedia : 73 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 Ie 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
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

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

(show top 50) (show all 402)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type ie 33.7 SSR4 SRD5A3 PMM2 NUS1 ALG6 ALG13
2 congenital disorder of glycosylation, type iii 33.6 SRD5A3 DPM2 ALG6 ALG1
3 congenital disorder of glycosylation, type iia 33.5 PMM2 MPI ALG1
4 congenital disorder of glycosylation, type iik 33.5 TMEM165 PGM1 ALG6
5 congenital disorder of glycosylation, type iib 33.5 TUSC3 MPI ALG1
6 congenital disorder of glycosylation, type ik 33.5 EEF2KMT ALG1
7 congenital disorder of glycosylation, type iif 33.4 MPI ALG1
8 congenital disorder of glycosylation, type iim 33.4 PGM1 ALG1
9 congenital disorder of glycosylation, type iin 33.4 PMM2 PGM1
10 congenital disorder of glycosylation, type iid 33.4 PMM2 MPI
11 alg1-congenital disorder of glycosylation 33.3 EEF2KMT ALG1
12 protein-losing enteropathy 31.3 PMM2 MPI ALG6
13 walker-warburg syndrome 30.9 SRD5A3 PMM2 MPI DPM2 DPAGT1 ALG1
14 galactosemia i 30.8 TMEM165 PMM2 PGM1
15 autosomal recessive non-syndromic intellectual disability 30.8 TUSC3 SRD5A3 MAGT1 DDOST
16 congenital disorders of n-linked glycosylation and multiple pathway 30.7 ALG6 ALG1
17 congenital disorder of glycosylation, type ic 30.4 PMM2 ALG6
18 immunodeficiency 47 30.3 TMEM165 SSR4 SRD5A3 PMM2 PGM1 MPI
19 congenital disorder of glycosylation, type ia 30.1 TF PMM2
20 congenital disorder of glycosylation, type ig 12.0
21 congenital disorder of glycosylation, type im 12.0
22 congenital disorder of glycosylation, type iu 11.9
23 congenital disorder of glycosylation, type it 11.9
24 congenital disorder of glycosylation, type iw 11.9
25 congenital disorder of glycosylation, type ip 11.9
26 congenital disorder of glycosylation, type iih 11.9
27 congenital disorder of glycosylation, type ir 11.9
28 congenital disorder of glycosylation, type iij 11.8
29 congenital disorder of glycosylation, type ib 11.8
30 congenital disorder of glycosylation, type iil 11.8
31 congenital disorder of glycosylation, type iq 11.8
32 congenital disorder of glycosylation, type ix 11.8
33 congenital disorder of glycosylation, type iig 11.8
34 congenital disorder of glycosylation, type id 11.8
35 congenital disorder of glycosylation, type ij 11.8
36 congenital disorder of glycosylation, type if 11.8
37 congenital disorder of glycosylation, type iip 11.8
38 congenital disorder of glycosylation, type ih 11.8
39 congenital disorder of glycosylation, type iio 11.8
40 congenital disorder of glycosylation, type iic 11.8
41 congenital disorder of glycosylation, type il 11.8
42 congenital disorder of glycosylation, type iy 11.8
43 congenital disorder of glycosylation, type iaa 11.8
44 congenital disorder of glycosylation, type iiq 11.8
45 muscular dystrophy-dystroglycanopathy , type c, 15 11.8
46 congenital disorder of glycosylation, type icc 11.8
47 developmental and epileptic encephalopathy 36 11.8
48 congenital disorder of glycosylation, type iir 11.7
49 cog5-congenital disorder of glycosylation 11.7
50 congenital disorder of glycosylation with defective fucosylation 1 11.7

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 31 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Obligate (100%) HP:0001263
2 seizure 31 frequent (33%) HP:0001250
3 hypotonia 31 obligate (100%) HP:0001252
4 failure to thrive 58 31 hallmark (90%) Frequent (79-30%) HP:0001508
5 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
6 cerebral cortical atrophy 58 31 hallmark (90%) Occasional (29-5%) HP:0002120
7 arthrogryposis multiplex congenita 58 31 hallmark (90%) Very frequent (99-80%) HP:0002804
8 abnormality of coagulation 58 31 hallmark (90%) Frequent (79-30%) HP:0001928
9 abnormality of retinal pigmentation 31 hallmark (90%) HP:0007703
10 strabismus 31 hallmark (90%) HP:0000486
11 wide intermamillary distance 31 hallmark (90%) HP:0006610
12 aplasia/hypoplasia of the nipples 31 hallmark (90%) HP:0006709
13 elevated hepatic transaminase 31 hallmark (90%) HP:0002910
14 abnormality of immune system physiology 31 hallmark (90%) HP:0010978
15 aplasia/hypoplasia of the cerebellum 31 hallmark (90%) HP:0007360
16 abnormal subcutaneous fat tissue distribution 31 hallmark (90%) HP:0007552
17 abnormal circulating carbohydrate concentration 31 hallmark (90%) HP:0011013
18 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
19 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
20 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
21 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
22 inverted nipples 58 31 frequent (33%) Frequent (79-30%) HP:0003186
23 abnormal bleeding 58 31 frequent (33%) Frequent (79-30%) HP:0001892
24 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
25 abnormal thrombosis 58 31 frequent (33%) Frequent (79-30%) HP:0001977
26 hypoglycemia 31 frequent (33%) HP:0001943
27 abnormality of vision 31 frequent (33%) HP:0000504
28 broad forehead 31 frequent (33%) HP:0000337
29 cardiomyopathy 31 frequent (33%) HP:0001638
30 hypergonadotropic hypogonadism 31 frequent (33%) HP:0000815
31 abnormal pericardium morphology 31 frequent (33%) HP:0001697
32 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
33 stroke-like episode 58 31 occasional (7.5%) Occasional (29-5%) HP:0002401
34 bilateral basal ganglia lesions 58 31 occasional (7.5%) Occasional (29-5%) HP:0007146
35 hyperintensity of cerebral white matter on mri 58 31 occasional (7.5%) Occasional (29-5%) HP:0030890
36 nephropathy 31 occasional (7.5%) HP:0000112
37 ascites 31 occasional (7.5%) HP:0001541
38 peripheral neuropathy 31 occasional (7.5%) HP:0009830
39 abnormal intestine morphology 31 occasional (7.5%) HP:0002242
40 decreased liver function 31 occasional (7.5%) HP:0001410
41 abnormal posterior cranial fossa morphology 31 occasional (7.5%) HP:0000932
42 seizures 58 Obligate (100%)
43 spasticity 31 HP:0001257
44 hyperreflexia 31 HP:0001347
45 short neck 31 HP:0000470
46 muscular hypotonia 58 Obligate (100%)
47 respiratory insufficiency 31 HP:0002093
48 sensorineural hearing impairment 31 HP:0000407
49 intellectual disability, severe 31 HP:0010864
50 myoclonus 31 HP:0001336

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
spasticity
hyperreflexia
ataxia
myoclonus
more
Head And Neck Neck:
short neck

Head And Neck Head:
microcephaly

Head And Neck Face:
micrognathia

Abdomen Gastrointestinal:
feeding difficulties

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

Respiratory:
respiratory insufficiency

Growth Height:
short stature

Chest Breasts:
inverted nipples

Muscle Soft Tissue:
hypotonia

Skeletal Hands:
adducted thumbs

Abdomen Liver:
hepatomegaly (in some patients)

Hematology:
coagulopathy (in some patients)

Clinical features from OMIM®:

612015 (Updated 05-Apr-2021)

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


seizures; ataxia; myoclonus; muscle spasticity

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 9.02 ALG1 DPM2 MPI PMM2 SRD5A3

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.65 ALG6 DDOST DPAGT1 MPI NUS1 PMM2
2 mortality/aging MP:0010768 9.44 ALG1 ALG6 DDOST DPAGT1 DPM2 MPI

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 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 2, Phase 3 59-66-5 1986
2 Anticonvulsants Phase 2, Phase 3
3 diuretics Phase 2, Phase 3
4 Carbonic Anhydrase Inhibitors Phase 2, Phase 3
5
Protein C Approved
6
Thrombin Approved, Investigational
7 Hemostatics
8 Fibrin fragment D
9 Antithrombin III
10 protein S
11 Thromboplastin
12 Antithrombins

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 A Randomized, Double-blind, Placebo-controlled Study Evaluating Acetazolamide Efficacy in Ataxia in PMM2-CDG Recruiting NCT04679389 Phase 2, Phase 3 Placebo;Acetazolamide
2 Study of ORL-1M (D-mannose) in Patients With CDG-Ib Unknown status NCT03404869 Phase 1, Phase 2 ORL-1M - D-mannose
3 "Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects" (CARDIoG) Unknown status NCT02503267
4 Role of the Endothelium in Stroke-like Episode Among CDG Patients Completed NCT03250728
5 Evaluation of Global Coagulation Balance of 57 Patients With Congenital Disorder of Glycosylation Using the Thrombin Generation Assay Completed NCT03560570
6 Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation Completed NCT02955264
7 Dietary Monosaccharide Supplementation in Patients With Congenital Disorders of Glycosylation Recruiting NCT04198987
8 Clinical and Basic Investigations Into Congenital Disorders of Glycosylation Recruiting NCT04199000
9 Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation Recruiting NCT02089789
10 Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism Active, not recruiting NCT04201067
11 Clinical and Basic Investigations Into Phosphomannomutase Deficiency (PMM2-CDG) Active, not recruiting NCT03173300

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 Type 1n 29 RFT1
2 Congenital Disorder of Glycosylation 29 ALG13 DDOST DPM2 MAGT1 PGM1 SSR4 TMEM165 TUSC3

Anatomical Context for Congenital Disorder of Glycosylation, Type in

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

40
Liver, Eye, Cerebellum, Kidney, Ovary, Fetal Brain

Publications for Congenital Disorder of Glycosylation, Type in

Articles related to Congenital Disorder of Glycosylation, Type in:

(show top 50) (show all 460)
# Title Authors PMID Year
1
Human RFT1 deficiency leads to a disorder of N-linked glycosylation. 61 6 57
18313027 2008
2
RFT1-CDG in adult siblings with novel mutations. 6 57
23111317 2012
3
RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation. 57 6
19856127 2009
4
RFT1 deficiency in three novel CDG patients. 57 6
19701946 2009
5
Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation. 61 6
30945312 2019
6
DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients. 6 61
30117111 2019
7
SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. 6 61
27480077 2016
8
Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation. 6 61
27325525 2016
9
Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. 61 6
14709599 2004
10
Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik. 61 6
14973778 2004
11
Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I. 61 6
14973782 2004
12
Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs. 6
28940310 2018
13
Genomic diagnosis for children with intellectual disability and/or developmental delay. 6
28554332 2017
14
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy. 6
27172925 2016
15
Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Answers. 6
25956699 2016
16
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. 6
26931382 2016
17
Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects. 57
17065563 2006
18
Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1. 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. 57
9516657 1998
20
Novel PGM3 compound heterozygous variants with IgE-related dermatitis, lymphopenia, without syndromic features. 61
33098103 2021
21
SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition. 61
33403770 2021
22
GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation. 61
33755596 2021
23
D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial. 61
33743737 2021
24
Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis. 61
33644825 2021
25
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. 61
33734437 2021
26
Slc35a1 deficiency causes thrombocytopenia due to impaired megakaryocytopoiesis and excessive platelet clearance in the liver. 61
32303557 2021
27
Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency. 61
33731878 2021
28
SLC35A2-CDG: Novel variant and review. 61
33552911 2021
29
SLC37A4-CDG: Second patient. 61
33728255 2021
30
Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications. 61
33300232 2021
31
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG). 61
33619652 2021
32
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations. 61
33534079 2021
33
Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes. 61
33580824 2021
34
Assessment of Ataxia Rating Scales and Cerebellar Functional Tests: Critique and Recommendations. 61
33022077 2021
35
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy. 61
33410528 2021
36
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy. 61
33410539 2021
37
Deciphering the premature mortality in PIGA-CDG - An untold story. 61
33508693 2021
38
N-Glycan Modification in Covid-19 Pathophysiology: In vitro Structural Changes with Limited Functional Effects. 61
33245474 2021
39
Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation. 61
33583911 2021
40
Is X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy a congenital disorder of glycosylation? 61
33576051 2021
41
A missense mutation in a patient with developmental delay affects the activity and structure of the hexosamine biosynthetic pathway enzyme AGX1. 61
33098688 2021
42
Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE). 61
33407896 2021
43
Identification of potential inhibitors against pathogenic missense mutations of PMM2 using a structure-based virtual screening approach. 61
31870226 2021
44
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH. 61
33461977 2021
45
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management. 61
32681750 2021
46
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature. 61
33044030 2021
47
SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation. 61
32884905 2020
48
Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects. 61
33209585 2020
49
Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease. 61
32145091 2020
50
Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy. 61
32963965 2020

Variations for Congenital Disorder of Glycosylation, Type in

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

6 (show top 50) (show all 558)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RFT1 NM_052859.4(RFT1):c.199C>T (p.Arg67Cys) SNV Pathogenic 785 rs118203913 GRCh37: 3:53157807-53157807
GRCh38: 3:53123791-53123791
2 RFT1 NM_052859.4(RFT1):c.454A>G (p.Lys152Glu) SNV Pathogenic 207986 rs763862849 GRCh37: 3:53156392-53156392
GRCh38: 3:53122376-53122376
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 MAGT1 NM_001367916.1(MAGT1):c.972A>C (p.Lys324Asn) SNV Pathogenic 625836 rs373260156 GRCh37: X:77086322-77086322
GRCh38: X:77830825-77830825
9 MAGT1 NM_001367916.1(MAGT1):c.895C>T (p.Arg299Ter) SNV Pathogenic 625837 rs1569547876 GRCh37: X:77096749-77096749
GRCh38: X:77841252-77841252
10 RFT1 NM_052859.4(RFT1):c.775G>A (p.Gly259Ser) SNV Pathogenic 807671 rs1575494302 GRCh37: 3:53145846-53145846
GRCh38: 3:53111830-53111830
11 ALG1 NM_001330504.1(ALG1):c.440C>T (p.Ser147Leu) SNV Pathogenic 4724 rs28939378 GRCh37: 16:5128790-5128790
GRCh38: 16:5078789-5078789
12 PMM2 NM_000303.3(PMM2):c.422G>A (p.Arg141His) SNV Pathogenic 7706 rs28936415 GRCh37: 16:8905010-8905010
GRCh38: 16:8811153-8811153
13 RFT1 NM_052859.4(RFT1):c.1231del (p.Leu411fs) Deletion Pathogenic 1032346 GRCh37: 3:53126612-53126612
GRCh38: 3:53092596-53092596
14 NUS1 NM_138459.5(NUS1):c.869G>A (p.Arg290His) SNV Pathogenic 253197 rs886037858 GRCh37: 6:118028165-118028165
GRCh38: 6:117707002-117707002
15 DPAGT1 NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp) SNV Likely pathogenic 521719 rs772988029 GRCh37: 11:118968743-118968743
GRCh38: 11:119098033-119098033
16 RFT1 NM_052859.4(RFT1):c.902A>G (p.Tyr301Cys) SNV Likely pathogenic 495320 rs913477149 GRCh37: 3:53139744-53139744
GRCh38: 3:53105728-53105728
17 SRD5A3 NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) SNV Likely pathogenic 96125 rs398124401 GRCh37: 4:56212560-56212560
GRCh38: 4:55346393-55346393
18 ALG1 NM_001330504.1(ALG1):c.854+3A>G SNV Likely pathogenic 224118 rs369160589 GRCh37: 16:5132677-5132677
GRCh38: 16:5082676-5082676
19 SRD5A3 NM_024592.5(SRD5A3):c.562+3del Deletion Likely pathogenic 424415 rs752307253 GRCh37: 4:56230441-56230441
GRCh38: 4:55364274-55364274
20 ALG1 NM_019109.4(ALG1):c.149A>G (p.Gln50Arg) SNV Likely pathogenic 193418 rs794726944 GRCh37: 16:5121999-5121999
GRCh38: 16:5071998-5071998
21 ALG1 NM_001330504.1(ALG1):c.854+1G>A SNV Likely pathogenic 95934 rs374928784 GRCh37: 16:5132675-5132675
GRCh38: 16:5082674-5082674
22 ALG1 NM_001330504.1(ALG1):c.917_918insTG (p.Ala307fs) Insertion Likely pathogenic 424339 rs746019074 GRCh37: 16:5133745-5133746
GRCh38: 16:5083744-5083745
23 DPAGT1 NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys) SNV Likely pathogenic 12296 rs28934876 GRCh37: 11:118971106-118971106
GRCh38: 11:119100396-119100396
24 DPAGT1 NM_001382.4(DPAGT1):c.26dup (p.Met9fs) Duplication Likely pathogenic 567578 rs768656482 GRCh37: 11:118972339-118972340
GRCh38: 11:119101629-119101630
25 DPAGT1 NM_001382.4(DPAGT1):c.1197T>A (p.Tyr399Ter) SNV Likely pathogenic 996651 GRCh37: 11:118967738-118967738
GRCh38: 11:119097028-119097028
26 DPAGT1 NM_001382.4(DPAGT1):c.380_395dup (p.Ser133fs) Duplication Likely pathogenic 521720 rs1185483085 GRCh37: 11:118971440-118971441
GRCh38: 11:119100730-119100731
27 DPAGT1 NM_001382.4(DPAGT1):c.419A>G (p.Tyr140Cys) SNV Likely pathogenic 996692 GRCh37: 11:118971417-118971417
GRCh38: 11:119100707-119100707
28 DPAGT1 NM_001382.4(DPAGT1):c.488T>C (p.Leu163Pro) SNV Likely pathogenic 996693 GRCh37: 11:118971348-118971348
GRCh38: 11:119100638-119100638
29 DPAGT1 NM_001382.4(DPAGT1):c.2T>C (p.Met1Thr) SNV Likely pathogenic 996710 GRCh37: 11:118972364-118972364
GRCh38: 11:119101654-119101654
30 DPAGT1 NM_001382.4(DPAGT1):c.341C>G (p.Ala114Gly) SNV Likely pathogenic 65469 rs397515327 GRCh37: 11:118971495-118971495
GRCh38: 11:119100785-119100785
31 DPAGT1 NM_001382.4(DPAGT1):c.584C>G (p.Ala195Gly) SNV Likely pathogenic 218096 rs863225088 GRCh37: 11:118971031-118971031
GRCh38: 11:119100321-119100321
32 DPAGT1 NM_001382.4(DPAGT1):c.1117C>G (p.Pro373Ala) SNV Likely pathogenic 996712 GRCh37: 11:118967896-118967896
GRCh38: 11:119097186-119097186
33 DPAGT1 NM_001382.4(DPAGT1):c.116_117delinsAA (p.Ala39Glu) Indel Likely pathogenic 996713 GRCh37: 11:118972249-118972250
GRCh38: 11:119101539-119101540
34 SSR3 NM_007107.5(SSR3):c.278_281del (p.Glu93fs) Deletion Likely pathogenic 982233 GRCh37: 3:156266772-156266775
GRCh38: 3:156548983-156548986
35 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
36 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
37 ALG1 NM_019109.5(ALG1):c.866A>G (p.Asp289Gly) SNV Likely pathogenic 690314 rs1180515976 GRCh37: 16:5129068-5129068
GRCh38: 16:5079067-5079067
38 ALG1 , EEF2KMT NM_019109.5(ALG1):c.1312C>T (p.Arg438Trp) SNV Likely pathogenic 690315 rs16835020 GRCh37: 16:5134799-5134799
GRCh38: 16:5084798-5084798
39 ALG1 NM_019109.5(ALG1):c.1101C>G (p.His367Gln) SNV Likely pathogenic 690316 rs1428414601 GRCh37: 16:5132588-5132588
GRCh38: 16:5082587-5082587
40 ALG1 NM_019109.5(ALG1):c.841G>T (p.Val281Phe) SNV Likely pathogenic 690317 rs553396382 GRCh37: 16:5128858-5128858
GRCh38: 16:5078857-5078857
41 ALG1 NM_019109.5(ALG1):c.293C>T (p.Pro98Leu) SNV Likely pathogenic 690318 rs1596252105 GRCh37: 16:5123160-5123160
GRCh38: 16:5073159-5073159
42 ALG1 NM_019109.5(ALG1):c.212C>T (p.Ser71Phe) SNV Likely pathogenic 690319 rs200605408 GRCh37: 16:5122955-5122955
GRCh38: 16:5072954-5072954
43 ALG1 NM_019109.5(ALG1):c.221A>T (p.His74Leu) SNV Likely pathogenic 690320 rs201337379 GRCh37: 16:5122964-5122964
GRCh38: 16:5072963-5072963
44 ALG1 NM_001330504.1(ALG1):c.746C>T (p.Ala249Val) SNV Likely pathogenic 95931 rs398124348 GRCh37: 16:5132566-5132566
GRCh38: 16:5082565-5082565
45 ALG1 NM_019109.5(ALG1):c.342G>C (p.Leu114Phe) SNV Likely pathogenic 690321 rs1596252196 GRCh37: 16:5123209-5123209
GRCh38: 16:5073208-5073208
46 ALG1 NM_019109.4(ALG1):c.262T>G (p.Leu88Val) SNV Likely pathogenic 195352 rs794727301 GRCh37: 16:5123005-5123005
GRCh38: 16:5073004-5073004
47 ALG1 NM_019109.4(ALG1):c.15C>A (p.Cys5Ter) SNV Likely pathogenic 193419 rs752922461 GRCh37: 16:5121865-5121865
GRCh38: 16:5071864-5071864
48 ALG1 NM_019109.5(ALG1):c.1076C>T (p.Ser359Leu) SNV Likely pathogenic 690322 rs1299775990 GRCh37: 16:5132563-5132563
GRCh38: 16:5082562-5082562
49 ALG1 NM_019109.5(ALG1):c.872A>T (p.Asp291Val) SNV Likely pathogenic 690323 rs192564717 GRCh37: 16:5129074-5129074
GRCh38: 16:5079073-5079073
50 ALG1 NM_019109.5(ALG1):c.626T>G (p.Ile209Ser) SNV Likely pathogenic 690324 rs1596256204 GRCh37: 16:5127532-5127532
GRCh38: 16:5077531-5077531

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

72
# 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 related to Congenital Disorder of Glycosylation, Type in according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.83 TUSC3 SRD5A3 PMM2 PGM1 MPI DPM2
2
Show member pathways
13.58 TUSC3 SSR4 SSR3 SRD5A3 RFT1 PMM2
3
Show member pathways
12.66 TUSC3 SRD5A3 RFT1 PMM2 NUS1 MPI
4 11.86 TUSC3 SSR4 SSR3 DDOST
5
Show member pathways
11.76 TUSC3 SRD5A3 DPM2 DPAGT1 DDOST ALG6
6
Show member pathways
11.61 SRD5A3 RFT1 PMM2 NUS1 MPI DPM2
7
Show member pathways
11.43 PMM2 PGM1 MPI
8 10.68 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 integral component of membrane GO:0016021 10.07 TUSC3 TMEM165 SSR4 SSR3 SRD5A3 RFT1
2 endoplasmic reticulum GO:0005783 9.73 TUSC3 SSR4 SSR3 SRD5A3 NUS1 MAGT1
3 endoplasmic reticulum membrane GO:0005789 9.44 TUSC3 SSR4 SSR3 SRD5A3 RFT1 NUS1
4 oligosaccharyltransferase complex GO:0008250 9.33 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 9.7 TUSC3 TMEM165 PMM2 MAGT1 DPAGT1 DDOST
2 regulation of protein stability GO:0031647 9.63 TF DPM2 DDOST
3 protein N-linked glycosylation via asparagine GO:0018279 9.62 TUSC3 MAGT1 DPM2 DDOST
4 dolichyl diphosphate biosynthetic process GO:0006489 9.54 SRD5A3 NUS1 DPAGT1
5 magnesium ion transmembrane transport GO:1903830 9.49 TUSC3 MAGT1
6 magnesium ion transport GO:0015693 9.48 TUSC3 MAGT1
7 GDP-mannose biosynthetic process GO:0009298 9.43 PMM2 MPI
8 dolichol metabolic process GO:0019348 9.43 SRD5A3 DPM2 DPAGT1
9 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.43 SRD5A3 RFT1 DPAGT1 ALG6 ALG13 ALG1
10 dolichol biosynthetic process GO:0019408 9.4 SRD5A3 NUS1
11 protein glycosylation GO:0006486 9.36 TUSC3 SRD5A3 PMM2 NUS1 MPI MAGT1

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

# Name GO ID Score Top Affiliating Genes
1 isomerase activity GO:0016853 9.43 PMM2 PGM1 MPI
2 magnesium ion transmembrane transporter activity GO:0015095 9.16 TUSC3 MAGT1
3 transferase activity, transferring hexosyl groups GO:0016758 8.96 ALG6 ALG13
4 transferase activity, transferring glycosyl groups GO:0016757 8.92 DPAGT1 ALG6 ALG13 ALG1

Sources for Congenital Disorder of Glycosylation, Type in

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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