MCID: CNG411
MIFTS: 55

Congenital Disorder of Glycosylation, Type in

Categories: Genetic diseases, Rare diseases, Endocrine diseases, Muscle diseases, Bone diseases, Neuronal diseases, Cardiovascular diseases, Skin diseases, Nephrological diseases, Gastrointestinal diseases, Blood diseases, Mental diseases, Liver diseases, Ear diseases, Metabolic diseases, Fetal 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 53 13 69
Congenital Disorder of Glycosylation 12 72 49 28 14
Congenital Disorders of Glycosylation 49 41 69
Cdg1n 53 55 71
Carbohydrate-Deficient Glycoprotein Syndrome 12 51
Congenital Disorder of Glycosylation Type 1n 55 28
Congenital Disorder of Glycosylation Type in 55 71
Cdg in 53 71
Cdg-in 55 71
Cdgin 53 71
Carbohydrate Deficient Glycoprotein Syndrome Type in 55
Carbohydrate-Deficient Glycoprotein Syndromes 49
Carbohydrate Deficient Glycoprotein Syndrome 72
Congenital Disorder of Glycosylation 1n 71
Man5glcnac2-Pp-Dol Flippase Deficiency 55
Cdg Syndrome Type in 55
Cdg in; Cdgin 53
Cdg Syndrome 72
Rft1-Cdg 55
Cdg 49

Characteristics:

Orphanet epidemiological data:

55
rft1-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

31
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 : 49 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. Last updated: 9/21/2011

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 ii, and has symptoms including ataxia, seizures and muscular hypotonia. 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. Affiliated tissues include liver, eye and cerebellum.

OMIM : 53 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 : 71 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.

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

Wikipedia : 72 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 in 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 Ii
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 Iq
Congenital Disorder of Glycosylation, Type Io 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 all 17)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type ie 34.7 PMM2 SSR4
2 congenital disorder of glycosylation, type ii 34.5 ALG2 MGAT2 TF
3 congenital disorder of glycosylation, type ia 34.3 CLU HP PMM2 TF
4 gmppa-cdg 12.1
5 congenital disorder of glycosylation, type ic 12.0
6 congenital disorder of glycosylation, type ib 10.7
7 multiple congenital anomalies-hypotonia-seizures syndrome 3 10.5 PMM2 TF
8 tenosynovial giant cell tumor 10.5 CLU PGM1
9 orbital cyst 10.4 PTGDS TF
10 melancholia 10.4 HP TF
11 evans' syndrome 10.4 HP MAGT1
12 glucosephosphate dehydrogenase deficiency 10.4 HP PGM1
13 protein-losing enteropathy 10.3 ALG6 MPI
14 fructose intolerance, hereditary 10.2 ALG2 CLU HP PMM2 TF
15 epileptic encephalopathy, early infantile, 36 10.2 ALG13 DPM2 HP PMM2 SSR4 TF
16 camurati-engelmann disease 10.1 ALG2 TMEM165
17 branchiootic syndrome 1 9.9

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

Symptoms via clinical synopsis from OMIM:

53
NeurologicCentralNervousSystem:
ataxia
seizures
myoclonus
spasticity
hyperreflexia
more
GrowthOther:
failure to thrive

HeadAndNeckHead:
microcephaly

HeadAndNeckFace:
micrognathia

ChestBreasts:
inverted nipples

HeadAndNeckEars:
sensorineural deafness

SkeletalHands:
adducted thumbs

SkeletalFeet:
valgus foot deformity

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

HeadAndNeckNeck:
short neck

Respiratory:
respiratory insufficiency

GrowthHeight:
short stature

AbdomenGastrointestinal:
feeding difficulties

MuscleSoftTissue:
hypotonia

HeadAndNeckEyes:
decreased visual acuity
lack of eye contact

AbdomenLiver:
hepatomegaly (in some patients)

Hematology:
coagulopathy (in some patients)


Clinical features from OMIM:

612015

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

55 31 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001251
2 seizures 55 31 frequent (33%) Obligate (100%) HP:0001250
3 muscular hypotonia 55 31 obligate (100%) Obligate (100%) HP:0001252
4 failure to thrive 55 31 hallmark (90%) Frequent (79-30%) HP:0001508
5 hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000365
6 global developmental delay 55 31 hallmark (90%) Obligate (100%) HP:0001263
7 hepatomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0002240
8 microcephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000252
9 visual impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000505
10 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
11 abnormal bleeding 55 31 frequent (33%) Frequent (79-30%) HP:0001892
12 abnormal thrombosis 55 31 frequent (33%) Frequent (79-30%) HP:0001977
13 feeding difficulties 55 31 frequent (33%) Frequent (79-30%) HP:0011968
14 inverted nipples 55 31 frequent (33%) Frequent (79-30%) HP:0003186
15 cerebral cortical atrophy 55 31 hallmark (90%) Occasional (29-5%) HP:0002120
16 stroke-like episode 55 31 occasional (7.5%) Occasional (29-5%) HP:0002401
17 arthrogryposis multiplex congenita 55 31 hallmark (90%) Very frequent (99-80%) HP:0002804
18 abnormality of coagulation 55 31 hallmark (90%) Frequent (79-30%) HP:0001928
19 abnormality of the posterior cranial fossa 55 31 occasional (7.5%) Occasional (29-5%) HP:0000932
20 bilateral basal ganglia lesions 55 31 occasional (7.5%) Occasional (29-5%) HP:0007146
21 hyperintensity of cerebral white matter on mri 55 31 occasional (7.5%) Occasional (29-5%) HP:0030890
22 myoclonus 31 HP:0001336
23 short neck 31 HP:0000470
24 intellectual disability 31 HP:0001249
25 spasticity 31 HP:0001257
26 hyperreflexia 31 HP:0001347
27 respiratory insufficiency 31 HP:0002093
28 sensorineural hearing impairment 31 HP:0000407
29 abnormality of retinal pigmentation 31 hallmark (90%) HP:0007703
30 nephropathy 31 occasional (7.5%) HP:0000112
31 abnormality of vision 31 frequent (33%) HP:0000504
32 intellectual disability, severe 31 HP:0010864
33 hypoglycemia 31 frequent (33%) HP:0001943
34 decreased liver function 31 occasional (7.5%) HP:0001410
35 ascites 31 occasional (7.5%) HP:0001541
36 micrognathia 31 HP:0000347
37 peripheral neuropathy 31 occasional (7.5%) HP:0009830
38 strabismus 31 hallmark (90%) HP:0000486
39 wide intermamillary distance 31 hallmark (90%) HP:0006610
40 aplasia/hypoplasia of the nipples 31 hallmark (90%) HP:0006709
41 elevated hepatic transaminases 31 hallmark (90%) HP:0002910
42 cardiomyopathy 31 frequent (33%) HP:0001638
43 reduced visual acuity 31 HP:0007663
44 abnormality of immune system physiology 31 hallmark (90%) HP:0010978
45 aplasia/hypoplasia of the cerebellum 31 hallmark (90%) HP:0007360
46 broad forehead 31 frequent (33%) HP:0000337
47 hypergonadotropic hypogonadism 31 frequent (33%) HP:0000815
48 adducted thumb 31 HP:0001181
49 cerebral atrophy 55 Occasional (29-5%)
50 abnormal subcutaneous fat tissue distribution 31 hallmark (90%) HP:0007552

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


seizures, myoclonus, muscle spasticity, ataxia

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type in

Search Clinical Trials , 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
2 Congenital Disorder of Glycosylation Type 1n 28 RFT1

Anatomical Context for Congenital Disorder of Glycosylation, Type in

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

38
Liver, Eye, Cerebellum

Publications for Congenital Disorder of Glycosylation, Type in

Articles related to Congenital Disorder of Glycosylation, Type in:

(show top 50) (show all 224)
# Title Authors Year
1
Association of Steroid 5I+-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy. ( 28253385 )
2017
2
Phenotypic Heterogeneity in a Congenital Disorder of Glycosylation Caused by Mutations in STT3A. ( 28424003 )
2017
3
TMEM165 deficiencies in Congenital Disorders of Glycosylation type II (CDG-II): Clues and evidences for roles of the protein in Golgi functions and ion homeostasis. ( 27401145 )
2017
4
Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: Cervical dystonia. ( 28566178 )
2017
5
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation. ( 27862579 )
2017
6
Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs. ( 28940310 )
2017
7
Receptor-mediated selective impairment of insulin-like growth factor-1 activity in congenital disorders of glycosylation patients. ( 27089502 )
2017
8
Mass spectrometry of transferrin glycoforms to detect congenital disorders of glycosylation: Site-specific profiles and pitfalls. ( 27095603 )
2016
9
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy. ( 27172925 )
2016
10
SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. ( 27480077 )
2016
11
Skeletal dysplasia as the presenting feature of a congenital disorder of glycosylation. ( 27773000 )
2016
12
A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity. ( 27343064 )
2016
13
A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2. ( 27053713 )
2016
14
Congenital Disorder of Glycosylation (CDG) Presenting as Non-immune Hydrops Fetalis. ( 26365158 )
2015
15
Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation. ( 25649379 )
2015
16
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
17
Fetal akinesia deformation sequence due to a congenital disorder of glycosylation. ( 26033833 )
2015
18
Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation. ( 25066056 )
2014
19
A case of congenital disorder of glycosylation ia presented with recurrent pericardial effusion. ( 25793077 )
2014
20
Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation. ( 25052310 )
2014
21
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
22
Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation. ( 24784932 )
2014
23
Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation. ( 24555185 )
2014
24
Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome. ( 24461433 )
2014
25
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. ( 24931394 )
2014
26
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. ( 23856421 )
2013
27
A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype. ( 23249953 )
2013
28
Congenital disorders of glycosylation and intellectual disability. ( 23798010 )
2013
29
Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. ( 23842455 )
2013
30
Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation. ( 24144945 )
2013
31
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. ( 23561849 )
2013
32
A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex. ( 24218363 )
2013
33
Mass spectrometric analysis of neutral and anionic N-glycans from a Dictyostelium discoideum model for human congenital disorder of glycosylation CDG IL. ( 23320427 )
2013
34
From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG). ( 22327749 )
2013
35
A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene. ( 22976764 )
2013
36
Bone dysplasia as a key feature in three patients with a novel congenital disorder of glycosylation (CDG) type II due to a deep intronic splice mutation in TMEM165. ( 23430531 )
2013
37
Subcutaneous fat pads on body MRI - an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a). ( 24037084 )
2013
38
Congenital disorder of glycosylation type Ic: report of a Japanese case. ( 23044053 )
2013
39
Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG. ( 23430200 )
2013
40
Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip. ( 22213132 )
2012
41
Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations. ( 22966035 )
2012
42
Analysis of congenital disorder of glycosylation-Id in a yeast model system shows diverse site-specific under-glycosylation of glycoproteins. ( 23038983 )
2012
43
Congenital disorder of glycosylation: a case presentation. ( 22469962 )
2012
44
Macular hypoplasia in congenital disorder of glycosylation type ia. ( 22649348 )
2012
45
Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease. ( 22304930 )
2012
46
TMEM165 deficiency causes a congenital disorder of glycosylation. ( 22683087 )
2012
47
Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice. ( 22157680 )
2012
48
Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping. ( 23430862 )
2012
49
Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia). ( 22012410 )
2012
50
Congenital disorder of glycosylation (PMM2-CDG) in a patient with antithrombin deficiency and severe thrombophilia. ( 23082948 )
2012

Variations for Congenital Disorder of Glycosylation, Type in

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

71
# 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 all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 MPI NM_002435.2(MPI): c.656G> A (p.Arg219Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894489 GRCh37 Chromosome 15, 75185647: 75185647
2 PMM2 NM_000303.2(PMM2): c.470T> C (p.Phe157Ser) single nucleotide variant Pathogenic/Likely pathogenic rs190521996 GRCh38 Chromosome 16, 8811660: 8811660
3 RFT1 NM_052859.3(RFT1): c.199C> T (p.Arg67Cys) single nucleotide variant Pathogenic rs118203913 GRCh37 Chromosome 3, 53157807: 53157807
4 PMM2 NM_000303.2(PMM2): c.422G> A (p.Arg141His) single nucleotide variant Pathogenic rs28936415 GRCh37 Chromosome 16, 8905010: 8905010
5 PMM2 NM_000303.2(PMM2): c.357C> A (p.Phe119Leu) single nucleotide variant Pathogenic rs80338701 GRCh37 Chromosome 16, 8904945: 8904945
6 PMM2 NM_000303.2(PMM2): c.710C> G (p.Thr237Arg) single nucleotide variant Pathogenic/Likely pathogenic rs80338708 GRCh37 Chromosome 16, 8941651: 8941651
7 RFT1 NM_052859.3(RFT1): c.454A> G (p.Lys152Glu) single nucleotide variant Pathogenic rs763862849 GRCh37 Chromosome 3, 53156392: 53156392
8 RFT1 NM_052859.3(RFT1): c.892G> A (p.Glu298Lys) single nucleotide variant Pathogenic rs796053521 GRCh37 Chromosome 3, 53139754: 53139754
9 RFT1 NM_052859.3(RFT1): c.887T> A (p.Ile296Lys) single nucleotide variant Pathogenic rs772820136 GRCh37 Chromosome 3, 53139759: 53139759
10 RFT1 NM_052859.3(RFT1): c.887T> G (p.Ile296Arg) single nucleotide variant Pathogenic rs772820136 GRCh37 Chromosome 3, 53139759: 53139759
11 RFT1 NM_052859.3(RFT1): c.1222A> G (p.Met408Val) single nucleotide variant Pathogenic rs796053522 GRCh37 Chromosome 3, 53126621: 53126621
12 RFT1 NM_052859.3(RFT1): c.1325G> A (p.Arg442Gln) single nucleotide variant Pathogenic rs749968109 GRCh38 Chromosome 3, 53092502: 53092502

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
13.77 ALG13 ALG2 ALG6 DDOST DPM2 MGAT2
2
Show member pathways
13.53 ALG13 ALG2 ALG6 DDOST DPM2 MAGT1
3
Show member pathways
12.33 ALG13 ALG2 ALG6 DDOST DPM2 MAGT1
4
Show member pathways
11.9 ALG13 ALG2 ALG6 DPM2 MPDU1 MPI
5
Show member pathways
11.49 ALG13 ALG2 ALG6 DDOST DPM2 MGAT2
6
Show member pathways
11.38 MPI PGM1 PMM2
7 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 extracellular exosome GO:0070062 9.91 CLU HP MPDU1 MPI PGM1 PMM2
2 endoplasmic reticulum GO:0005783 9.76 ALG13 ALG6 CLU DDOST DPM2 MAGT1
3 endoplasmic reticulum membrane GO:0005789 9.36 ALG13 ALG2 ALG6 DDOST DPM2 MAGT1
4 oligosaccharyltransferase complex GO:0008250 9.13 DDOST MAGT1 TUSC3

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

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.61 ALG2 ALG6 DDOST DPM2 MAGT1 MGAT2
2 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.56 ALG13 ALG2 ALG6 MPDU1
3 protein N-linked glycosylation via asparagine GO:0018279 9.55 DDOST DPM2 MAGT1 MGAT2 TUSC3
4 positive regulation of receptor-mediated endocytosis GO:0048260 9.46 CLU TF
5 magnesium ion transmembrane transport GO:1903830 9.43 MAGT1 TUSC3
6 oligosaccharide biosynthetic process GO:0009312 9.4 MGAT2 MPDU1
7 magnesium ion transport GO:0015693 9.37 MAGT1 TUSC3
8 GDP-mannose biosynthetic process GO:0009298 9.32 MPI PMM2
9 protein N-linked glycosylation GO:0006487 9.17 ALG6 DDOST MAGT1 MGAT2 PMM2 TMEM165

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 transferase activity, transferring glycosyl groups GO:0016757 9.35 ALG13 ALG2 ALG6 DDOST MGAT2
3 magnesium ion transmembrane transporter activity GO:0015095 9.26 MAGT1 TUSC3
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
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47 NDF-RT
50 NINDS
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53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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