MCID: CNG486
MIFTS: 31

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway

Aliases & Classifications for Congenital Disorders of N-Linked Glycosylation and Multiple...

MalaCards integrated aliases for Congenital Disorders of N-Linked Glycosylation and Multiple Pathway:

Name: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway 24
Carbohydrate-Deficient Glycoprotein Syndromes 24
Congenital Disorders of Glycosylation 71
Cdg Syndromes 24

External Ids:

UMLS 71 C0282577

Summaries for Congenital Disorders of N-Linked Glycosylation and Multiple...

MalaCards based summary : Congenital Disorders of N-Linked Glycosylation and Multiple Pathway, also known as carbohydrate-deficient glycoprotein syndromes, is related to congenital disorder of glycosylation, type ie and congenital disorder of glycosylation, type iip. An important gene associated with Congenital Disorders of N-Linked Glycosylation and Multiple Pathway is ALG1 (ALG1 Chitobiosyldiphosphodolichol Beta-Mannosyltransferase), and among its related pathways/superpathways are Metabolism and Metabolism of proteins. The drugs Thrombin and Azacitidine have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

GeneReviews: NBK1332

Related Diseases for Congenital Disorders of N-Linked Glycosylation and Multiple...

Diseases related to Congenital Disorders of N-Linked Glycosylation and Multiple Pathway via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 134)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type ie 32.0 ALG2 ALG13
2 congenital disorder of glycosylation, type iip 31.8 ALG6 ALG2 ALG1
3 congenital disorder of glycosylation, type iio 31.8 ALG6 ALG2 ALG1
4 congenital disorder of glycosylation, type iim 31.1 ALG6 ALG2 ALG1
5 congenital disorder of glycosylation, type iij 29.9 ALG2 ALG12
6 congenital disorder of glycosylation, type iid 29.9 ALG2 ALG12
7 congenital disorder of glycosylation, type iig 29.6 ALG2 ALG12 ALG11
8 congenital disorder of glycosylation, type iib 29.6 ALG2 ALG12 ALG1
9 congenital disorder of glycosylation, type iif 29.5 ALG6 ALG2 ALG1
10 congenital disorder of glycosylation, type iih 29.5 ALG3 ALG2
11 congenital disorder of glycosylation, type iia 29.1 ALG3 ALG2 ALG1
12 congenital disorder of glycosylation, type iik 29.1 ALG6 ALG2 ALG11 ALG1
13 congenital disorder of glycosylation, type iii 29.1 ALG6 ALG3 ALG2
14 congenital disorder of glycosylation, type ii 27.7 ALG6 ALG3 ALG2 ALG12 ALG11 ALG1
15 congenital disorder of glycosylation, type in 27.1 ALG6 ALG3 ALG2 ALG13 ALG12 ALG11
16 cog5-congenital disorder of glycosylation 11.8
17 epileptic encephalopathy, early infantile, 50 11.7
18 congenital disorder of glycosylation, type iin 11.6
19 man1b1-cdg 11.6
20 alg6-congenital disorder of glycosylation 11.6
21 congenital disorder of glycosylation, type if 11.5
22 congenital disorder of glycosylation, type ix 11.5
23 alg1-congenital disorder of glycosylation 11.5
24 phosphomannoisomerase deficiency 11.5
25 congenital disorder of glycosylation, type iil 11.2
26 peho syndrome 11.1
27 epileptic encephalopathy, early infantile, 36 11.0
28 congenital disorder of glycosylation, type iw 11.0
29 slc35a2-congenital disorder of glycosylation 11.0
30 ataxia and polyneuropathy, adult-onset 10.5
31 cerebellar hypoplasia 10.5
32 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i 10.4
33 autosomal recessive disease 10.4
34 hemopericardium 10.4
35 pericardial effusion 10.4
36 olivopontocerebellar atrophy 10.4
37 hypotonia 10.4
38 retinitis pigmentosa 10.3
39 aceruloplasminemia 10.3
40 neuroretinitis 10.3
41 protein-losing enteropathy 10.3
42 retinitis 10.3
43 polyneuropathy 10.3
44 peripheral nervous system disease 10.3
45 neuropathy 10.3
46 hypoglycemia 10.3
47 strabismus 10.2
48 mechanical strabismus 10.2
49 esotropia 10.2
50 leukocyte adhesion deficiency, type i 10.2

Graphical network of the top 20 diseases related to Congenital Disorders of N-Linked Glycosylation and Multiple Pathway:



Diseases related to Congenital Disorders of N-Linked Glycosylation and Multiple Pathway

Symptoms & Phenotypes for Congenital Disorders of N-Linked Glycosylation and Multiple...

GenomeRNAi Phenotypes related to Congenital Disorders of N-Linked Glycosylation and Multiple Pathway according to GeneCards Suite gene sharing:

26 (show all 30)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.83 ALG1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.83 ALG1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.83 ALG12
4 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.83 ALG6
5 Increased shRNA abundance (Z-score > 2) GR00366-A-108 9.83 ALG1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.83 ALG12
7 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.83 ALG6
8 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.83 ALG1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.83 ALG6
10 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.83 ALG1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.83 ALG6
12 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.83 ALG12
13 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.83 ALG1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.83 ALG6
15 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.83 ALG1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.83 ALG1 ALG12 ALG6
17 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.83 ALG6
18 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.83 ALG1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.83 ALG1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.83 ALG12
21 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.83 ALG12
22 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.83 ALG6
23 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.83 ALG1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.83 ALG1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.83 ALG6
26 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.83 ALG12
27 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.83 ALG12
28 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.83 ALG6
29 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.83 ALG1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.83 ALG12

Drugs & Therapeutics for Congenital Disorders of N-Linked Glycosylation and Multiple...

Drugs for Congenital Disorders of N-Linked Glycosylation and Multiple Pathway (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thrombin Approved, Investigational
2
Azacitidine Approved, Investigational 320-67-2 9444
3
Protein C Approved
4 Antithrombins
5 Antithrombin III
6 Hemostatics
7 Fibrin fragment D
8 protein S
9 Thromboplastin
10 Coagulants
11 Fibrinolytic Agents
12 Anticoagulants

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation Recruiting NCT02955264 Phase 2
2 "Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects" (CARDIoG) Unknown status NCT02503267
3 Evaluation of Global Coagulation Balance of 57 Patients With Congenital Disorder of Glycosylation Using the Thrombin Generation Assay Completed NCT03560570
4 Sialic Acid Supplementation in NANS Deficiency: An Open-label, Proof of Concept, Two-centers Study Completed NCT03545568
5 Dietary Monosaccharide Supplementation in Patients With Congenital Disorders of Glycosylation Recruiting NCT04198987
6 Clinical and Basic Investigations Into Congenital Disorders of Glycosylation Recruiting NCT04199000
7 Role of the Endothelium in Stroke-like Episode Among CDG Patients Recruiting NCT03250728
8 Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation Recruiting NCT02089789
9 Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism Active, not recruiting NCT04201067

Search NIH Clinical Center for Congenital Disorders of N-Linked Glycosylation and Multiple Pathway

Genetic Tests for Congenital Disorders of N-Linked Glycosylation and Multiple...

Anatomical Context for Congenital Disorders of N-Linked Glycosylation and Multiple...

MalaCards organs/tissues related to Congenital Disorders of N-Linked Glycosylation and Multiple Pathway:

40
Liver, Heart, Testes, Brain, Skin, Eye, Bone

Publications for Congenital Disorders of N-Linked Glycosylation and Multiple...

Articles related to Congenital Disorders of N-Linked Glycosylation and Multiple Pathway:

(show top 50) (show all 683)
# Title Authors PMID Year
1
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. 61 24
26931382 2016
2
A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity. 61 24
27343064 2016
3
ALG3-CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation. 61 24
26126960 2015
4
Expanding the Molecular and Clinical Phenotype of SSR4-CDG. 61 24
26264460 2015
5
ALG8-CDG: novel patients and review of the literature. 61 24
26066342 2015
6
Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation. 61 24
24784932 2015
7
Skin manifestations in CDG. 61 24
24554337 2014
8
Successful liver transplantation and long-term follow-up in a patient with MPI-CDG. 61 24
24982104 2014
9
Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation. 61 24
24144945 2013
10
De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. 61 24
24115232 2013
11
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. 61 24
23856421 2013
12
Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation. 61 24
23890587 2013
13
Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. 61 24
23842455 2013
14
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. 61 24
24035193 2013
15
COG5-CDG: expanding the clinical spectrum. 61 24
23228021 2012
16
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. 61 24
23109149 2012
17
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. 61 24
22492991 2012
18
DPAGT1-CDG: report of a patient with fetal hypokinesia phenotype. 61 24
22786653 2012
19
TMEM165 deficiency causes a congenital disorder of glycosylation. 61 24
22683087 2012
20
Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease. 61 24
22304930 2012
21
Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip. 61 24
22213132 2012
22
DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. 61 24
22305527 2012
23
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. 61 24
22242004 2011
24
Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic). 61 24
21334936 2011
25
Identification of the first COG-CDG patient of Indian origin. 61 24
21185756 2011
26
Congenital disorders of glycosylation. 61 24
21175687 2010
27
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. 61 24
20852264 2010
28
Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations. 61 24
20679665 2010
29
Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation. 61 24
20605848 2010
30
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. 61 24
20637498 2010
31
A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip. 61 24
20080937 2010
32
RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation. 61 24
19856127 2009
33
Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation. 61 24
19690088 2009
34
Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih. 61 24
19648040 2009
35
RFT1 deficiency in three novel CDG patients. 61 24
19701946 2009
36
The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia). 61 24
19272306 2009
37
The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib. 61 24
19101627 2009
38
Congenital disorders of glycosylation: a rare cause of nephrotic syndrome. 61 24
19474279 2009
39
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. 61 24
19576565 2009
40
Different neuroradiological findings during two stroke-like episodes in a patient with a congenital disorder of glycosylation type Ia. 61 24
18485644 2009
41
Recurrent thrombo-embolism in a child with a congenital disorder of glycosylation (CDG) type Ib and treatment with mannose. 61 24
19065443 2008
42
Congenital disorders of glycosylation: rapidly enlarging group of (neuro)metabolic disorders. 61 24
17959325 2007
43
Screening and diagnosis of congenital disorders of glycosylation. 61 24
17716641 2007
44
Molecular and clinical characterization of a Moroccan Cog7 deficient patient. 61 24
17395513 2007
45
Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. 61 24
17506107 2007
46
Characterization of transferrin glycoforms in human serum by CE-UV and CE-ESI-MS. 61 24
17523137 2007
47
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis. 61 24
17158594 2007
48
A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings. 61 24
16641202 2006
49
Use of serum on Guthrie cards in screening for congenital disorders of glycosylation. 61 24
16595835 2006
50
Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder. 61 24
16151902 2005

Variations for Congenital Disorders of N-Linked Glycosylation and Multiple...

Expression for Congenital Disorders of N-Linked Glycosylation and Multiple...

Search GEO for disease gene expression data for Congenital Disorders of N-Linked Glycosylation and Multiple Pathway.

Pathways for Congenital Disorders of N-Linked Glycosylation and Multiple...

Pathways related to Congenital Disorders of N-Linked Glycosylation and Multiple Pathway according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.52 ALG6 ALG3 ALG2 ALG13 ALG12 ALG11
2
Show member pathways
13.23 ALG6 ALG3 ALG2 ALG13 ALG12 ALG11
3
Show member pathways
12.59 ALG6 ALG3 ALG2 ALG13 ALG12 ALG11
4
Show member pathways
11.79 ALG6 ALG3 ALG2 ALG13 ALG12 ALG11
5
Show member pathways
11.17 ALG6 ALG3 ALG2 ALG13 ALG12 ALG11

GO Terms for Congenital Disorders of N-Linked Glycosylation and Multiple...

Cellular components related to Congenital Disorders of N-Linked Glycosylation and Multiple Pathway according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.63 ALG6 ALG3 ALG2 ALG12 ALG11 ALG1
2 endoplasmic reticulum GO:0005783 9.43 ALG6 ALG3 ALG13 ALG12 ALG11 ALG1
3 endoplasmic reticulum membrane GO:0005789 9.17 ALG6 ALG3 ALG2 ALG13 ALG12 ALG11

Biological processes related to Congenital Disorders of N-Linked Glycosylation and Multiple Pathway according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.65 ALG6 ALG3 ALG2 ALG12 ALG1
2 protein N-linked glycosylation GO:0006487 9.5 ALG6 ALG12 ALG11
3 mannosylation GO:0097502 9.35 ALG3 ALG2 ALG12 ALG11 ALG1
4 oligosaccharide-lipid intermediate biosynthetic process GO:0006490 9.33 ALG6 ALG2 ALG11
5 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.1 ALG6 ALG3 ALG2 ALG13 ALG12 ALG1

Molecular functions related to Congenital Disorders of N-Linked Glycosylation and Multiple Pathway according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.5 ALG6 ALG3 ALG2 ALG13 ALG12 ALG11
2 transferase activity, transferring hexosyl groups GO:0016758 9.32 ALG6 ALG13
3 mannosyltransferase activity GO:0000030 9.26 ALG12 ALG1
4 transferase activity, transferring glycosyl groups GO:0016757 9.17 ALG6 ALG3 ALG2 ALG13 ALG12 ALG11
5 alpha-1,3-mannosyltransferase activity GO:0000033 9.16 ALG3 ALG2

Sources for Congenital Disorders of N-Linked Glycosylation and Multiple...

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