CDG1N
MCID: CNG411
MIFTS: 64

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 58 13 74
Congenital Disorder of Glycosylation 12 77 54 30 6 15
Congenital Disorder of Glycosylation Type 1n 60 30 6
Congenital Disorders of Glycosylation 54 45 74
Cdg1n 58 60 76
Carbohydrate-Deficient Glycoprotein Syndrome 12 56
Congenital Disorder of Glycosylation Type in 60 76
Cdg in 58 76
Cdg-in 60 76
Cdgin 58 76
Carbohydrate Deficient Glycoprotein Syndrome Type in 60
Glycosylation, Congenital Disorder of, Type in 41
Carbohydrate-Deficient Glycoprotein Syndromes 54
Carbohydrate Deficient Glycoprotein Syndrome 77
Congenital Disorder of Glycosylation 1n 76
Man5glcnac2-Pp-Dol Flippase Deficiency 60
Glycosylation, Congenital Disorder of 41
Cdg Syndrome Type in 60
Cdg in; Cdgin 58
Cdg Syndrome 77
Rft1-Cdg 60
Cdg 54

Characteristics:

Orphanet epidemiological data:

60
rft1-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

33
congenital disorder of glycosylation, type in:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type in

NIH Rare Diseases : 54 Congenital disorders of glycosylation (CDG) are a group of inheritedmetabolic 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 iii and congenital disorder of glycosylation, type iid, 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 Warfarin and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and eye, and related phenotypes are seizures and muscular hypotonia

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

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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 : 77 A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome)... more...

Related Diseases for Congenital Disorder of Glycosylation, Type in

Diseases in the Congenital Disorder of Glycosylation, Type Ii 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 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

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

(show top 50) (show all 157)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type iii 34.8 ALG2 PMM2 TF
2 congenital disorder of glycosylation, type iid 34.7 ALG2 MPI PMM2 TF
3 congenital disorder of glycosylation, type iia 34.7 ALG2 MPI PMM2 TF
4 congenital disorder of glycosylation, type iim 34.6 ALG2 PGM1 PMM2 SLC35A1 TF
5 congenital disorder of glycosylation, type ia 34.6 CLU HP PMM2 TF
6 congenital disorder of glycosylation, type iih 34.6 ALG2 TF
7 congenital disorder of glycosylation, type iik 34.6 PGM1 PMM2 SLC35C1 TF TMEM165
8 congenital disorder of glycosylation, type ii 34.6 ALG2 PMM2 SLC35A1 SLC35C1 TF TMEM165
9 congenital disorder of glycosylation, type iif 34.5 ALG2 PGM1 PMM2 SLC35A1 TF
10 epileptic encephalopathy, early infantile, 36 33.6 ALG1 ALG13 ALG2 ALG6 DPM2 MPI
11 multiple congenital anomalies-hypotonia-seizures syndrome 3 32.4 PMM2 TF
12 protein-losing enteropathy 30.4 ALG6 MPI
13 congenital disorder of glycosylation, type iip 12.8
14 congenital disorder of glycosylation, type ie 12.8
15 congenital disorder of glycosylation, type iil 12.8
16 congenital disorder of glycosylation, type iic 12.7
17 congenital disorder of glycosylation, type if 12.7
18 congenital disorder of glycosylation, type ic 12.7
19 congenital disorder of glycosylation, type ij 12.7
20 congenital disorder of glycosylation, type id 12.7
21 congenital disorder of glycosylation, type ih 12.7
22 congenital disorder of glycosylation, type ip 12.7
23 congenital disorder of glycosylation, type im 12.7
24 congenital disorder of glycosylation, type ir 12.7
25 congenital disorder of glycosylation, type iiq 12.7
26 congenital disorder of glycosylation, type iib 12.7
27 congenital disorder of glycosylation, type ik 12.7
28 congenital disorder of glycosylation, type ix 12.7
29 congenital disorder of glycosylation, type iig 12.7
30 congenital disorder of glycosylation, type iw 12.7
31 congenital disorder of glycosylation, type ig 12.7
32 congenital disorder of glycosylation, type it 12.7
33 congenital disorder of glycosylation, type iaa 12.7
34 congenital disorder of glycosylation, type il 12.7
35 congenital disorder of glycosylation, type iin 12.7
36 congenital disorder of glycosylation, type iio 12.7
37 congenital disorder of glycosylation, type iij 12.7
38 congenital disorder of glycosylation with defective fucosylation 1 12.6
39 congenital disorder of glycosylation with defective fucosylation 2 12.6
40 dolk-congenital disorder of glycosylation 12.6
41 congenital disorder of glycosylation, type iu 12.6
42 congenital disorder of glycosylation, type i/iix 12.6
43 congenital disorder of glycosylation, type iy 12.6
44 congenital disorder of glycosylation, type iq 12.6
45 congenital disorder of glycosylation with developmental anomaly 12.2
46 retinitis pigmentosa 59 12.1
47 alg12-congenital disorder of glycosylation 12.1
48 dhdds-cdg 12.0
49 congenital disorder of deglycosylation 12.0
50 muscular dystrophy-dystroglycanopathy , type c, 15 12.0

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:

60 33 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 60 33 frequent (33%) Obligate (100%) HP:0001250
2 muscular hypotonia 60 33 obligate (100%) Obligate (100%) HP:0001252
3 global developmental delay 60 33 hallmark (90%) Obligate (100%) HP:0001263
4 failure to thrive 60 33 hallmark (90%) Frequent (79-30%) HP:0001508
5 hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000365
6 cerebral cortical atrophy 60 33 hallmark (90%) Occasional (29-5%) HP:0002120
7 arthrogryposis multiplex congenita 60 33 hallmark (90%) Very frequent (99-80%) HP:0002804
8 abnormality of coagulation 60 33 hallmark (90%) Frequent (79-30%) HP:0001928
9 abnormality of retinal pigmentation 33 hallmark (90%) HP:0007703
10 strabismus 33 hallmark (90%) HP:0000486
11 wide intermamillary distance 33 hallmark (90%) HP:0006610
12 aplasia/hypoplasia of the nipples 33 hallmark (90%) HP:0006709
13 elevated hepatic transaminase 33 hallmark (90%) HP:0002910
14 abnormality of immune system physiology 33 hallmark (90%) HP:0010978
15 aplasia/hypoplasia of the cerebellum 33 hallmark (90%) HP:0007360
16 abnormal subcutaneous fat tissue distribution 33 hallmark (90%) HP:0007552
17 abnormal circulating carbohydrate concentration 33 hallmark (90%) HP:0011013
18 hepatomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002240
19 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
20 visual impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000505
21 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
22 abnormal bleeding 60 33 frequent (33%) Frequent (79-30%) HP:0001892
23 abnormal thrombosis 60 33 frequent (33%) Frequent (79-30%) HP:0001977
24 feeding difficulties 60 33 frequent (33%) Frequent (79-30%) HP:0011968
25 inverted nipples 60 33 frequent (33%) Frequent (79-30%) HP:0003186
26 abnormality of vision 33 frequent (33%) HP:0000504
27 hypoglycemia 33 frequent (33%) HP:0001943
28 cardiomyopathy 33 frequent (33%) HP:0001638
29 broad forehead 33 frequent (33%) HP:0000337
30 hypergonadotropic hypogonadism 33 frequent (33%) HP:0000815
31 abnormal pericardium morphology 33 frequent (33%) HP:0001697
32 ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001251
33 stroke-like episode 60 33 occasional (7.5%) Occasional (29-5%) HP:0002401
34 hyperintensity of cerebral white matter on mri 60 33 occasional (7.5%) Occasional (29-5%) HP:0030890
35 abnormality of the posterior cranial fossa 60 33 occasional (7.5%) Occasional (29-5%) HP:0000932
36 bilateral basal ganglia lesions 60 33 occasional (7.5%) Occasional (29-5%) HP:0007146
37 nephropathy 33 occasional (7.5%) HP:0000112
38 decreased liver function 33 occasional (7.5%) HP:0001410
39 ascites 33 occasional (7.5%) HP:0001541
40 peripheral neuropathy 33 occasional (7.5%) HP:0009830
41 abnormal intestine morphology 33 occasional (7.5%) HP:0002242
42 short neck 33 HP:0000470
43 spasticity 33 HP:0001257
44 hyperreflexia 33 HP:0001347
45 respiratory insufficiency 33 HP:0002093
46 sensorineural hearing impairment 33 HP:0000407
47 intellectual disability, severe 33 HP:0010864
48 micrognathia 33 HP:0000347
49 myoclonus 33 HP:0001336
50 reduced visual acuity 33 HP:0007663

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Neck:
short neck

Growth Other:
failure to thrive

Head And Neck Head:
microcephaly

Head And Neck Face:
micrognathia

Chest Breasts:
inverted nipples

Skeletal Hands:
adducted thumbs

Head And Neck Ears:
sensorineural deafness

Skeletal Feet:
valgus foot deformity

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

Neurologic Central Nervous System:
seizures
ataxia
spasticity
hyperreflexia
myoclonus
more
Respiratory:
respiratory insufficiency

Growth Height:
short stature

Abdomen Gastrointestinal:
feeding difficulties

Muscle Soft Tissue:
hypotonia

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

Abdomen Liver:
hepatomegaly (in some patients)

Hematology:
coagulopathy (in some patients)

Clinical features from OMIM:

612015

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ALG1 ALG13 ALG2 ALG6 CLU DDOST
2 Decreased shRNA abundance GR00297-A 9.26 ALG1 DPM2 MPI PMM2

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 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Warfarin Approved Phase 1 81-81-2 54678486 6691
2 Pharmaceutical Solutions Phase 1
3
Protein C Approved ,Not Applicable
4
Thrombin Approved, Investigational
5 Antithrombin III
6 Antithrombins
7 Coagulants
8 Hemostatics
9 Thromboplastin
10 protein S
11 Fibrin fragment D

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of ORL-1F (L-fucose) in Patients With Leukocyte Adhesion Deficiency Type II Completed NCT03354533 Phase 1, Phase 2 L-fucose
2 Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation Recruiting NCT02955264 Phase 2
3 Immunologic Effects of Supplemental Monosaccharide and Nucleoside Derivatives in Patients With Inherited Disorders of Glycosylation Terminated NCT02511041 Phase 1 N-Acetylglucosamine (GlcNAc);Uridine
4 "Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects" Unknown status NCT02503267
5 Study of Hemostasis in Patients With Congenital Disorder of Glycosylation Completed NCT03560570
6 Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation Recruiting NCT02089789
7 Role of the Endothelium in Stroke-like Episode Among CDG Patients Recruiting NCT03250728 Not Applicable
8 Natural History Study Protocol in PMM2-CDG (CDG-Ia) 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 30 RFT1
2 Congenital Disorder of Glycosylation 30 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:

42
Liver, Heart, Eye, Bone, Cerebellum, Brain, Ovary

Publications for Congenital Disorder of Glycosylation, Type in

Articles related to Congenital Disorder of Glycosylation, Type in:

(show top 50) (show all 208)
# Title Authors Year
1
Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation. ( 30530630 )
2019
2
Total loss of GM3 synthase activity by a normally processed enzyme in a novel variant and in all ST3GAL5 variants reported to cause a distinct congenital disorder of glycosylation. ( 30576498 )
2019
3
The first case of antenatal presentation in COG8-congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype. ( 30690882 )
2019
4
Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review. ( 30737079 )
2019
5
Relative quantification of plasma N-glycans in type II congenital disorder of glycosylation patients by mass spectrometry. ( 30776362 )
2019
6
Unusual Presentation of PMM2-Congenital Disorder of Glycosylation With Isolated Strokelike Episodes in a Young Girl. ( 30857461 )
2019
7
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2-CDG. ( 30873657 )
2019
8
Fetal phenotypes of congenital disorder of glycosylation: A case presentation. ( 30910375 )
2019
9
Mutations in the translocon associated protein complex subunit SSR3 cause a novel Congenital Disorder of Glycosylation. ( 30945312 )
2019
10
Multifactorial hypercoagulable state associated with a thrombotic phenotype in phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG): Case report and brief review of the literature. ( 30991241 )
2019
11
Early-onset retinal dystrophy and chronic dermatitis in a girl with an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG). ( 30019980 )
2018
12
An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia. ( 28643274 )
2018
13
Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation. ( 29304374 )
2018
14
Atrial septal defect in a patient with congenital disorder of glycosylation type 1a: a case report. ( 29361989 )
2018
15
Clinical Utility Gene Card For: GALNT3 defective congenital disorder of glycosylation. ( 29681618 )
2018
16
Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report. ( 29907092 )
2018
17
Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing. ( 29998879 )
2018
18
SLC35A2-related congenital disorder of glycosylation: Defining the phenotype. ( 30194038 )
2018
19
Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. ( 30503518 )
2018
20
Arrest of Fetal Brain Development in ALG11-Congenital Disorder of Glycosylation. ( 30770273 )
2018
21
Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: Cervical dystonia. ( 28566178 )
2017
22
Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylation. ( 27827381 )
2017
23
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation. ( 27862579 )
2017
24
Providing Palliative Care in Rare Pediatric Diseases: A Case Series of Three Children with Congenital Disorder of Glycosylation. ( 27923105 )
2017
25
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy. ( 28253385 )
2017
26
Phenotypic Heterogeneity in a Congenital Disorder of Glycosylation Caused by Mutations in STT3A. ( 28424003 )
2017
27
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature. ( 28954837 )
2017
28
Anesthetic management of a child with phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG). ( 29492447 )
2017
29
Glycosylation site occupancy in health, congenital disorder of glycosylation and fatty liver disease. ( 27725718 )
2016
30
Congenital Disorder of Glycosylation (CDG) Presenting as Non-immune Hydrops Fetalis. ( 26365158 )
2016
31
Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation. ( 27325525 )
2016
32
Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation. ( 26219881 )
2016
33
Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation. ( 26577042 )
2016
34
Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG). ( 26785728 )
2016
35
Mass spectrometry of transferrin and apolipoprotein C-III for diagnosis and screening of congenital disorder of glycosylation. ( 26873821 )
2016
36
RFT1-congenital disorder of glycosylation (CDG) syndrome: a cause of early-onset severe epilepsy. ( 26892341 )
2016
37
Synaptic roles for phosphomannomutase type 2 in a new Drosophila congenital disorder of glycosylation disease model. ( 26940433 )
2016
38
A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2. ( 27053713 )
2016
39
Heart transplantation in a child with congenital disorder of glycosylation. ( 27329399 )
2016
40
SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. ( 27480077 )
2016
41
Application of whole exome sequencing to a rare inherited metabolic disease with neurological and gastrointestinal manifestations: a congenital disorder of glycosylation mimicking glycogen storage disease. ( 25681648 )
2015
42
Fetal akinesia deformation sequence due to a congenital disorder of glycosylation. ( 26033833 )
2015
43
Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation. ( 24784932 )
2015
44
Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation. ( 25052310 )
2015
45
Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation. ( 25649379 )
2015
46
A case with rare type of congenital disorder of glycosylation: PGM1-CDG. ( 26043514 )
2015
47
Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation. ( 26242989 )
2015
48
Initial diagnosis of the congenital disorder of glycosylation PMM2-CDG (CDG1a) in a 4-year-old girl after neurosurgical intervention for cerebral hemorrhage. ( 25192236 )
2014
49
A case of congenital disorder of glycosylation ia presented with recurrent pericardial effusion. ( 25793077 )
2014
50
A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex. ( 24218363 )
2014

Variations for Congenital Disorder of Glycosylation, Type in

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

76
# 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

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

6 (show top 50) (show all 2398)
# Gene Variation Type Significance SNP ID Assembly Location
1 RFT1 NM_052859.3(RFT1): c.199C> T (p.Arg67Cys) single nucleotide variant Pathogenic rs118203913 GRCh37 Chromosome 3, 53157807: 53157807
2 RFT1 NM_052859.3(RFT1): c.199C> T (p.Arg67Cys) single nucleotide variant Pathogenic rs118203913 GRCh38 Chromosome 3, 53123791: 53123791
3 ALG1 NM_019109.4(ALG1): c.773C> T (p.Ser258Leu) single nucleotide variant Pathogenic/Likely pathogenic rs28939378 GRCh37 Chromosome 16, 5128790: 5128790
4 ALG1 NM_019109.4(ALG1): c.773C> T (p.Ser258Leu) single nucleotide variant Pathogenic/Likely pathogenic rs28939378 GRCh38 Chromosome 16, 5078789: 5078789
5 PMM2 NM_000303.2(PMM2): c.422G> A (p.Arg141His) single nucleotide variant Pathogenic rs28936415 GRCh37 Chromosome 16, 8905010: 8905010
6 PMM2 NM_000303.2(PMM2): c.422G> A (p.Arg141His) single nucleotide variant Pathogenic rs28936415 GRCh38 Chromosome 16, 8811153: 8811153
7 PMM2 NM_000303.2(PMM2): c.357C> A (p.Phe119Leu) single nucleotide variant Pathogenic rs80338701 GRCh37 Chromosome 16, 8904945: 8904945
8 PMM2 NM_000303.2(PMM2): c.357C> A (p.Phe119Leu) single nucleotide variant Pathogenic rs80338701 GRCh38 Chromosome 16, 8811088: 8811088
9 PMM2 NM_000303.2(PMM2): c.710C> G (p.Thr237Arg) single nucleotide variant Pathogenic/Likely pathogenic rs80338708 GRCh37 Chromosome 16, 8941651: 8941651
10 PMM2 NM_000303.2(PMM2): c.710C> G (p.Thr237Arg) single nucleotide variant Pathogenic/Likely pathogenic rs80338708 GRCh38 Chromosome 16, 8847794: 8847794
11 MPI NM_002435.2(MPI): c.656G> A (p.Arg219Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894489 GRCh37 Chromosome 15, 75185647: 75185647
12 MPI NM_002435.2(MPI): c.656G> A (p.Arg219Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894489 GRCh38 Chromosome 15, 74893306: 74893306
13 ALG11; ATP7B NM_000053.3(ATP7B): c.-123_-119dupCGCCG duplication Conflicting interpretations of pathogenicity rs148013251 GRCh37 Chromosome 13, 52585592: 52585596
14 ALG11; ATP7B NM_000053.3(ATP7B): c.-123_-119dupCGCCG duplication Conflicting interpretations of pathogenicity rs148013251 GRCh38 Chromosome 13, 52011456: 52011460
15 PMM2 NM_000303.2(PMM2): c.590A> C (p.Glu197Ala) single nucleotide variant Benign/Likely benign rs34258285 GRCh37 Chromosome 16, 8906914: 8906914
16 PMM2 NM_000303.2(PMM2): c.590A> C (p.Glu197Ala) single nucleotide variant Benign/Likely benign rs34258285 GRCh38 Chromosome 16, 8813057: 8813057
17 DPAGT1; HMBS NM_001382.3(DPAGT1): c.1177A> G (p.Ile393Val) single nucleotide variant Benign rs643788 GRCh37 Chromosome 11, 118967758: 118967758
18 DPAGT1; HMBS NM_001382.3(DPAGT1): c.1177A> G (p.Ile393Val) single nucleotide variant Benign rs643788 GRCh38 Chromosome 11, 119097048: 119097048
19 B4GALT1 NM_001497.3(B4GALT1): c.597C> T (p.His199=) single nucleotide variant Benign/Likely benign rs1065765 GRCh37 Chromosome 9, 33135238: 33135238
20 B4GALT1 NM_001497.3(B4GALT1): c.597C> T (p.His199=) single nucleotide variant Benign/Likely benign rs1065765 GRCh38 Chromosome 9, 33135240: 33135240
21 MPI NM_002435.2(MPI): c.1049C> T (p.Thr350Met) single nucleotide variant Conflicting interpretations of pathogenicity rs116933453 GRCh37 Chromosome 15, 75189556: 75189556
22 MPI NM_002435.2(MPI): c.1049C> T (p.Thr350Met) single nucleotide variant Conflicting interpretations of pathogenicity rs116933453 GRCh38 Chromosome 15, 74897215: 74897215
23 MPI NM_002435.2(MPI): c.1131A> G (p.Val377=) single nucleotide variant Benign rs1130741 GRCh37 Chromosome 15, 75189930: 75189930
24 MPI NM_002435.2(MPI): c.1131A> G (p.Val377=) single nucleotide variant Benign rs1130741 GRCh38 Chromosome 15, 74897589: 74897589
25 MPI NM_002435.2(MPI): c.345+15G> A single nucleotide variant Benign rs11638130 GRCh37 Chromosome 15, 75183935: 75183935
26 MPI NM_002435.2(MPI): c.345+15G> A single nucleotide variant Benign rs11638130 GRCh38 Chromosome 15, 74891594: 74891594
27 MPI NM_002435.2(MPI): c.670+9A> G single nucleotide variant Benign rs7495739 GRCh37 Chromosome 15, 75185670: 75185670
28 MPI NM_002435.2(MPI): c.670+9A> G single nucleotide variant Benign rs7495739 GRCh38 Chromosome 15, 74893329: 74893329
29 MPI NM_002435.2(MPI): c.678C> A (p.Ala226=) single nucleotide variant Uncertain significance rs199972529 GRCh37 Chromosome 15, 75188500: 75188500
30 MPI NM_002435.2(MPI): c.678C> A (p.Ala226=) single nucleotide variant Uncertain significance rs199972529 GRCh38 Chromosome 15, 74896159: 74896159
31 MPI NM_002435.2(MPI): c.762C> T (p.Ile254=) single nucleotide variant Benign/Likely benign rs12440159 GRCh37 Chromosome 15, 75188584: 75188584
32 MPI NM_002435.2(MPI): c.762C> T (p.Ile254=) single nucleotide variant Benign/Likely benign rs12440159 GRCh38 Chromosome 15, 74896243: 74896243
33 MPI NM_002435.2(MPI): c.982C> T (p.Arg328Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs117089191 GRCh37 Chromosome 15, 75189489: 75189489
34 MPI NM_002435.2(MPI): c.982C> T (p.Arg328Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs117089191 GRCh38 Chromosome 15, 74897148: 74897148
35 DPM1 NM_003859.2(DPM1): c.679-7A> T single nucleotide variant Benign/Likely benign rs60224379 GRCh37 Chromosome 20, 49551780: 49551780
36 DPM1 NM_003859.2(DPM1): c.679-7A> T single nucleotide variant Benign/Likely benign rs60224379 GRCh38 Chromosome 20, 50935243: 50935243
37 MPDU1 NM_004870.3(MPDU1): c.403G> C (p.Ala135Pro) single nucleotide variant Benign/Likely benign rs137983973 GRCh37 Chromosome 17, 7490231: 7490231
38 MPDU1 NM_004870.3(MPDU1): c.403G> C (p.Ala135Pro) single nucleotide variant Benign/Likely benign rs137983973 GRCh38 Chromosome 17, 7586913: 7586913
39 MPDU1 NM_004870.3(MPDU1): c.685G> A (p.Ala229Thr) single nucleotide variant Benign/Likely benign rs10852891 GRCh37 Chromosome 17, 7490810: 7490810
40 MPDU1 NM_004870.3(MPDU1): c.685G> A (p.Ala229Thr) single nucleotide variant Benign/Likely benign rs10852891 GRCh38 Chromosome 17, 7587492: 7587492
41 MOGS NM_006302.2(MOGS): c.1838G> A (p.Arg613Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs142032474 GRCh37 Chromosome 2, 74689078: 74689078
42 MOGS NM_006302.2(MOGS): c.1838G> A (p.Arg613Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs142032474 GRCh38 Chromosome 2, 74461951: 74461951
43 MOGS NM_006302.2(MOGS): c.184G> A (p.Val62Met) single nucleotide variant Benign/Likely benign rs79181168 GRCh37 Chromosome 2, 74692191: 74692191
44 MOGS NM_006302.2(MOGS): c.184G> A (p.Val62Met) single nucleotide variant Benign/Likely benign rs79181168 GRCh38 Chromosome 2, 74465064: 74465064
45 MOGS NM_006302.2(MOGS): c.715G> A (p.Asp239Asn) single nucleotide variant Benign rs1063588 GRCh37 Chromosome 2, 74690378: 74690378
46 MOGS NM_006302.2(MOGS): c.715G> A (p.Asp239Asn) single nucleotide variant Benign rs1063588 GRCh38 Chromosome 2, 74463251: 74463251
47 MOGS NM_006302.2(MOGS): c.877C> T (p.Pro293Ser) single nucleotide variant Benign rs2268416 GRCh37 Chromosome 2, 74690039: 74690039
48 MOGS NM_006302.2(MOGS): c.877C> T (p.Pro293Ser) single nucleotide variant Benign rs2268416 GRCh38 Chromosome 2, 74462912: 74462912
49 COG5 NM_006348.3(COG5): c.988T> C (p.Phe330Leu) single nucleotide variant Benign rs2269970 GRCh37 Chromosome 7, 107002806: 107002806
50 COG5 NM_006348.3(COG5): c.988T> C (p.Phe330Leu) single nucleotide variant Benign rs2269970 GRCh38 Chromosome 7, 107362361: 107362361

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
13.79 ALG1 ALG13 ALG2 ALG6 DDOST DPM2
2
Show member pathways
13.53 ALG1 ALG13 ALG2 ALG6 DDOST DPM2
3
Show member pathways
12.66 ALG1 ALG13 ALG2 ALG6 DDOST DPM2
4 11.83 DDOST SSR4 TUSC3
5
Show member pathways
11.61 ALG1 ALG13 ALG2 ALG6 DPM2 MPI
6
Show member pathways
11.49 ALG1 ALG13 ALG2 ALG6 DDOST DPM2
7
Show member pathways
11.38 MPI PGM1 PMM2
8 10.65 MAGT1 TUSC3

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 endoplasmic reticulum GO:0005783 9.81 ALG1 ALG13 ALG6 CLU DDOST DPM2
2 blood microparticle GO:0072562 9.43 CLU HP TF
3 endoplasmic reticulum membrane GO:0005789 9.36 ALG1 ALG13 ALG2 ALG6 DDOST DPM2
4 oligosaccharyltransferase complex GO:0008250 9.13 DDOST MAGT1 TUSC3
5 integral component of membrane GO:0016021 10.1 ALG1 ALG2 ALG6 DDOST DPM2 MAGT1

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 carbohydrate transport GO:0008643 9.5 RFT1 SLC35A1 SLC35C1
2 positive regulation of receptor-mediated endocytosis GO:0048260 9.49 CLU TF
3 magnesium ion transmembrane transport GO:1903830 9.48 MAGT1 TUSC3
4 mannosylation GO:0097502 9.46 ALG1 ALG2
5 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.46 ALG1 ALG13 ALG2 ALG6
6 magnesium ion transport GO:0015693 9.43 MAGT1 TUSC3
7 protein N-linked glycosylation via asparagine GO:0018279 9.43 DDOST MAGT1 TUSC3
8 protein N-linked glycosylation GO:0006487 9.43 ALG6 DDOST MAGT1 PMM2 TMEM165 TUSC3
9 GDP-mannose biosynthetic process GO:0009298 9.4 MPI PMM2
10 oligosaccharide-lipid intermediate biosynthetic process GO:0006490 9.37 ALG2 ALG6
11 protein glycosylation GO:0006486 9.28 ALG1 ALG2 ALG6 DDOST DPM2 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 9.46 MPI PGM1 PMM2 PTGDS
2 magnesium ion transmembrane transporter activity GO:0015095 9.26 MAGT1 TUSC3
3 transferase activity, transferring glycosyl groups GO:0016757 9.26 ALG1 ALG13 ALG2 ALG6
4 dolichyl-diphosphooligosaccharide-protein glycotransferase activity GO:0004579 8.8 DDOST MAGT1 TUSC3

Sources for Congenital Disorder of Glycosylation, Type in

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....